Podcasts about chromosomal

dna scenarios genetic ordering abnormal nips chromosomal

Play Episode Listen Later Jul 20, 2017 0:56

Nicole Hoppman, Ph.D. discusses ordering scenarios of the Cell-Free DNA Prenatal Screen. This test detects common chromosome abnormalities without the risk of pregnancy loss associated with invasive prenatal procedures. Chromosomal aneuploidy is the leading known genetic cause of miscarriage and congenital birth defects, including Down syndrome, trisomy 13, and trisomy 18. This fetal DNA screening test is not diagnostic. Abnormal results should be confirmed with invasive prenatal diagnostic testing (such as chorionic villi sampling or amniocentesis). Genetic consultation is recommended.

NIPS Clinical Application

dna application clinical genetic abnormal nips chromosomal

Play Episode Listen Later Jul 20, 2017 1:23

Nicole Hoppman, Ph.D. discusses clinical application of Cell-Free DNA Prenatal Screen. This test detects common chromosome abnormalities without the risk of pregnancy loss associated with invasive prenatal procedures. Chromosomal aneuploidy is the leading known genetic cause of miscarriage and congenital birth defects, including Down syndrome, trisomy 13, and trisomy 18. This fetal DNA screening test is not diagnostic. Abnormal results should be confirmed with invasive prenatal diagnostic testing (such as chorionic villi sampling or amniocentesis). Genetic consultation is recommended.

NIPS Additional Advantage

dna advantage genetic abnormal nips chromosomal

Play Episode Listen Later Jul 20, 2017 0:51

Nicole Hoppman, Ph.D. discusses advantages of the Cell-Free DNA Prenatal Screen. This test detects common chromosome abnormalities without the risk of pregnancy loss associated with invasive prenatal procedures. Chromosomal aneuploidy is the leading known genetic cause of miscarriage and congenital birth defects, including Down syndrome, trisomy 13, and trisomy 18. This fetal DNA screening test is not diagnostic. Abnormal results should be confirmed with invasive prenatal diagnostic testing (such as chorionic villi sampling or amniocentesis). Genetic consultation is recommended.

NIPS Test Overview

dna genetic abnormal nips chromosomal

Play Episode Listen Later Jul 20, 2017 1:18

Nicole Hoppman, Ph.D. provides an overview of the Cell-Free DNA Prenatal Screen. This test detects common chromosome abnormalities without the risk of pregnancy loss associated with invasive prenatal procedures. Chromosomal aneuploidy is the leading known genetic cause of miscarriage and congenital birth defects, including Down syndrome, trisomy 13, and trisomy 18. This fetal DNA screening test is not diagnostic. Abnormal results should be confirmed with invasive prenatal diagnostic testing (such as chorionic villi sampling or amniocentesis). Genetic consultation is recommended.

Diagnosing Congenital and Intellectual Abnormalities With Chromosomal Microarray Analysis

JAMA Clinical Reviews: Interviews about ideas & innovations in medicine, science & clinical practice. Listen & earn CME credi

Play Episode Listen Later Jun 27, 2017 18:27

Chromosomal microarray technology (CMA) facilitates the genetic diagnosis of intellectual disabilities, autism spectrum disorder, and congenital abnormalities in children. Previously, G-band karyotyping was the test performed for this purpose but it could only identify very large chromosomal abnormalities and was not very sensitive. Being a molecular rather than microscopic technique, CMA is far more sensitive for identifying genetic abnormalities and is now the test of choice. We interview David H. Ledbetter, MD, and Christa Lese Martin, PhD, from Geisinger Health System, authors of this JAMA Insights article. Articles discussed in this episode: Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders New Approaches to Molecular Diagnosis

phd md intellectual diagnosing cma ledbetter congenital abnormalities geisinger health system chromosomal microarray david h ledbetter

A Chromosomal Conundrum

UC Wellbeing Channel (Video)

Play Episode Listen Later Aug 5, 2016 2:19

Dr. Katherine Hyland explains the basics of the sex chromosomes and supplies some food for thought regarding the pairing of these chromosomes and the consequences of their vastly different structures. Series: "Wellbeing " [Health and Medicine] [Show ID: 31240]

health wellbeing genetics conundrum genes genome chromosomes medicine show id chromosomal series wellbeing health

A Chromosomal Conundrum

UC Wellbeing Channel (Audio)

Play Episode Listen Later Aug 5, 2016 2:19

health wellbeing genetics conundrum genes genome chromosomes medicine show id chromosomal series wellbeing health

Ep. 41: “Chromosomal Disorders” Featuring Dr. Eirini Papapetrou

The Stem Cell Podcast

Play Episode Listen Later Mar 31, 2015

Guest Dr. Eirini Papapetrou, an associate professor at the Icahn School of Medicine at Mt. Sinai where she discusses her work and latest paper on using stem cells to model blood diseases containing a chromosomal…

medicine mt disorders sinai icahn school chromosomal eirini

Chromosomal Instability in Cell-Free DNA Is a Serum Biomarker for Prostate Cancer

Clinical Chemistry Podcast

Play Episode Listen Later Jan 13, 2015 10:01

Extreme sports, extreme eating, extreme weight loss, extreme makeovers, just when you think you've heard it all, how about Extreme PCR?

dna cancer extreme chemistry clinical prostate cancer prostate instability serum biomarker ccj aacc chromosomal cell free

Transient tetraploidy as a route to chromosomal instability

Fakultät für Biologie - Digitale Hochschulschriften der LMU - Teil 05/06

Play Episode Listen Later Sep 6, 2013

Fri, 6 Sep 2013 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/16812/ https://edoc.ub.uni-muenchen.de/16812/1/Kuznetsova_Anastasia.pdf Kuznetsova, Anastasia ddc:570, ddc:500, Fakultät für Biologie

route instability biologie transient fakult chromosomal ddc:500 ddc:570

Characterization of the putative CALM/AF10 collaborator Meis1 in leukemia development

Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 15/19

Play Episode Listen Later Aug 20, 2013

Chromosomal translocations are common in human leukemias. Detailed studies of chromosomal translocation have been useful in understanding the pathogenesis and identifying therapeutic targets in hematologic malignancies. Some translocations result in the formation of fusion genes. These fusion proteins play an important role in leukemogenesis. The t(10;11)(p12;q14) translocation is rare but recurring and results in the formation of the CALM/AF10 fusion protein. Patients with this translocation have a bad prognosis. To understand how CALM/AF10 leads to leukemia, various mouse models have been established. In a murine bone marrow retroviral transduction and transplantation model Deshpande et al. (2006) showed that mice expressing CALM/AF10 in their bone marrow cells developed an acute myeloid leukemia with a penetrance of 100% and a short latency period of 110 days. Using a transgenic mouse model, in which CALM/AF10 was under the control of Vav promoter, Peter Aplan and colleagues demonstrated that only 40% to 50% of mice developed leukemia after a long latency of 10 to 12 months. Two classical transgenic CALM/AF10 models were established in our group using the immunoglobulin heavy chain enhancer/promoter (IgH-CALM/AF10) and proximal murine LcK promoter (pLck-CALM/AF10) to drive CALM/AF10 expression. These transgenic mice did not show any leukemic phenotype even after an observation period of 15 months. Taken together these studies strongly suggest that additional collaborating factors are required for the CALM/AF10 fusion gene to induce leukemia. Meis1, a Hox cofactor, is known to collaborate with several Hox genes and Hox fusion genes such as HOXA9 and NUP98-HOXD13. In these studies, Meis1 played a critical role in accelerating the development of leukemia. It could also be shown that MEIS1 is highly expressed in CALM/AF10 positive human leukemia cells. Therefore, I sought to determine whether the homeobox gene Meis1 collaborates with CALM/AF10 in inducing leukemia. In order to achieve this goal, lethally irradiated non-transgenic mice were transplanted with IgH-CALM/AF10 transgenic bone marrow cells transduced with a Meis1 expressing retrovirus. The transplanted mice developed an acute leukemia with a penetrance of 100% and a median latency period of 187 days. The leukemia showed predominantly myeloid features such as the presence of myeloid marker positive cells. The myeloid blast cells infiltrated in multiple hematopoietic as well as non-hematopoietic organs. The leukemic cells were also positive for the B-cell marker B220. Cells that were positive for both lymphoid and myeloid markers, a characteristic feature of CALM/AF10-induced leukemia, were also detected in all the mice. The leukemic cells had clonal DJH rearrangements. Overall, these data suggest that the transformed cell might be an early progenitor cell capable of lymphoid as well as myeloid differentiation or that the leukemia was initiated by a B220+ IgH DJ rearranged cell with blocked lymphoid differentiation, which started a default myeloid differentiation program. By performing serial secondary and tertiary transplantations the leukemic nature of the disease could be confirmed. Colony forming cell assays showed that CALM/AF10 in collaboration with Meis1 failed to induce the transformation of hematopoietic progenitors in vitro. This could either be due to the lack of required growth factors and conditions necessary for the proliferation of the transformable cell or lack of additional events essential for progression towards leukemia development. In conclusion, I have demonstrated that Meis1 collaborates with CALM/AF10 in inducing acute myeloid leukemia. Additional, detailed analyses of the leukemia initiating cell in these models would help to better understand the pathogenesis of CALM/AF10-induced leukemia.

development patients detailed colonies cells leukemia collaborator characterization deshpande vav lck dj h hox chromosomal putative ddc:600 calm af10 meis1

A New Era in Prenatal Diagnosis: The Use of Cell-Free Fetal DNA in Maternal Circulation for Detection of Chromosomal Aneuploidies

Clinical Chemistry Podcast

Play Episode Listen Later Aug 19, 2013 22:31

Pregnant women identified as high risk based on the prenatal screen can then undergo invasive procedures such as amniocentesis to confirm the diagnosis. Unfortunately, a large number of women with unaffected pregnancies undergo invasive procedures, putting the fetus at unnecessary risk for miscarriage.

dna diagnosis new era pregnant hoffman detection maternal prenatal circulation fetal ccj aacc chromosomal cell free

X-Inaktivierung bei heterozygoten Patientinnen bezüglich X-chromosomal vererbtem Morbus Fabry

Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 14/19

Play Episode Listen Later Oct 4, 2012

Morbus Fabry wird X-chromosomal vererbt und führt durch einen Defekt des lysosomalen Enzyms α-Galaktosidase A zu einer Störung im Glykosphingolipid-Katabolismus. Neutrale Glykosphingolipide, v.a. Gb3 (Globotriaosylceramid), akkumulieren in Lysosomen verschiedenster Gewebe. Mit zunehmender Ablagerung dieser Stoffe im Gefäßendothel und in den Organen kommt es zur Ausprägung der Krankheitssymptome. In der Kindheit beginnt die Erkrankung häufig mit Akroparästhesien und Angiokeratomen. Im weiteren Verlauf treten dann die lebenslimitierenden Manifestationen dieser Erkrankung auf, wie terminale Niereninsuffizienz und, durch Ischämie- und Infarktereignisse, Myokardinfarkt und zerebrale Ischämie. Im Gegensatz zur überwiegenden Mehrzahl anderer X-gebundener Erkrankungen zeigen bei Morbus Fabry nahezu alle heterozygoten Mutationsträgerinnen im Laufe der Zeit klinische Manifestationen dieser Erkrankung, teils in gleich schwerer Form wie männliche Patienten. Da bisherige Hypothesen davon ausgingen, dass eine Verschiebung der X-Inaktivierung zugunsten des mutierten GLA-Allels am Auftreten von Symptomen bei heterozygoten Fabry-Mutationsträgerinnen beteiligt sei, wurden die X-Inaktivierungsmuster von durch Mutationsanalyse gesicherten Morbus Fabry-Patientinnen mit Hilfe des Androgenrezeptor-Tests untersucht. Bei diesem Assay wird genomische DNA mit methylierungssensitiven Restriktionsenzymen inkubiert. Diese verdauen nur die unmethylierte DNA des aktiven X-Chromosoms, so dass in der anschließenden PCR-Amplifikation eines hochpolymorphen CAG-Repeats im Exon 1 des Androgenrezeptor-Gens lediglich Allele des inaktiven X-Chromosoms amplifiziert werden. Nach der automatisierten Auswertung mittels Fragmentanalyse, ermöglicht durch einen mit einem Fluoreszenzfarbstoff markierten PCR-Primer, zeigt das Verhältnis der zwei Androgenrezeptor-Allele zueinander die relative Häufigkeit eines jeden Allels auf dem aktiven oder inaktiven X-Chromosom in den Zellen des untersuchten Materials. Erstmals wurden im Rahmen der vorliegenden Arbeit die X-Inaktivierungsmuster heterozygoter Mutationsträgerinnen von Morbus Fabry im Vergleich zu einem nichtverwandten Kontrollkollektiv untersucht. 13 (46%) der 28 Fabry-Mutationsträgerinnen zeigten eine random X-Inaktivierung, 10 (36%) eine moderate Verschiebung der X-Inaktivierung und 5 (18%) eine ausgeprägte Verschiebung der X-Inaktivierung zugunsten eines Allels. Es zeigte sich kein statistisch signifikanter Unterschied zu den Inaktivierungsmustern gleichaltriger Kontrollen (p = 0,669). Segregationsanalysen konnten anhand der Familien von sechs Frauen mit ausgeprägter oder moderater Verschiebung der X-Inaktivierung durchgeführt werden. Hier zeigte sich bei vier dieser Frauen eine Verschiebung der X-Inaktivierung zugunsten des Wildtyp GLA-Allels, während bei zwei weiteren eine Verschiebung zugunsten des mutierten Allels in Leukozyten erkennbar war. Bei jeder der Fabry-Patientinnen war sowohl der klinische Schweregrad der Erkrankung mittels MSSI (Mainz Severity Score Index), einem detaillierten Scoring-System für Morbus Fabry, als auch die Enzymaktivität der α-Galaktosidase A bestimmt worden. Eine Korrelation zwischen dem Ausmaß der X-Inaktivierung in Leukozyten heterozygoter Fabry-Mutationsträgerinnen und deren klinischen oder biochemischen Krankheitsparametern konnte jedoch nicht nachgewiesen werden. In dieser Studie konnte gezeigt werden, dass heterozygote Fabry-Patientinnen random X-Inaktivierungsmuster ähnlich denen gesunder Frauen aufweisen. Anhand unserer Daten konnte nicht belegt werden, dass das Auftreten und der Schweregrad der Erkrankung bei der Mehrzahl der heterozygoten Fabry-Patientinnen auf eine Verschiebung der X-Inaktivierung zugunsten des mutierten Allels als Pathomechanismus zurückzuführen ist. X-Inaktivierungsstudien können jedoch dazu beitragen, jene Frauen frühzeitig herauszufiltern, welche aufgrund einer bei ihnen möglicherweise rascher progredient verlaufenden Erkrankung von einer sehr teuren Enzymersatztherapie am meisten profitieren könnten.

dna mit arbeit gef frauen bei diese hilfe unterschied rahmen verh kindheit daten vergleich materials familien studie laufe patienten verlauf anhand erkrankung erkrankungen ausma auftreten erstmals im gegensatz zellen auswertung symptomen stoffe kontrollen verschiebung auspr patientinnen isch gewebe organen defekt hypothesen mehrzahl assay fabry manifestationen exon morbus krankheitssymptome chromosomal schweregrad allele niereninsuffizienz leukozyten myokardinfarkt ddc:600 inaktivierung enzymaktivit eine korrelation pathomechanismus kontrollkollektiv ablagerung allels mutationsanalyse lysosomen

Impact of histone H4 lysine 20 methylation on 53BP1 responses to chromosomal double strand breaks.

Medizin - Open Access LMU - Teil 19/22

Play Episode Listen Later Jan 1, 2012

Recruitment of 53BP1 to chromatin flanking double strand breaks (DSBs) requires γH2AX/MDC1/RNF8-dependent ubiquitination of chromatin and interaction of 53BP1 with histone H4 methylated on lysine 20 (H4K20me). Several histone methyltransferases have been implicated in 53BP1 recruitment, but their quantitative contributions to the 53BP1 response are unclear. We have developed a multi-photon laser (MPL) system to target DSBs to subfemtoliter nuclear volumes and used this to mathematically model DSB response kinetics of MDC1 and of 53BP1. In contrast to MDC1, which revealed first order kinetics, the 53BP1 MPL-DSB response is best fitted by a Gompertz growth function. The 53BP1 MPL response shows the expected dependency on MDC1 and RNF8. We determined the impact of altered H4K20 methylation on 53BP1 MPL response kinetics in mouse embryonic fibroblasts (MEFs) lacking key H4K20 histone methyltransferases. This revealed no major requirement for the known H4K20 dimethylases Suv4-20h1 and Suv4-20h2 in 53BP1 recruitment or DSB repair function, but a key role for the H4K20 monomethylase, PR-SET7. The histone methyltransferase MMSET/WHSC1 has recently been implicated in 53BP1 DSB recruitment. We found that WHSC1 homozygous mutant MEFs reveal an alteration in balance of H4K20 methylation patterns; however, 53BP1 DSB responses in these cells appear normal.

breaks recruitment responses strand medizin methylation mpl dsb h4 lysine chromosomal histone dsbs

Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

Clinical Chemistry Podcast

Play Episode Listen Later Jul 25, 2011 10:29

blood optimal parallel detection maternal fetal abnormalities dna sequencing chromosomal cell free

Functional analysis of X-chromosomal gene expression in Drosophila melanogaster

Fakultät für Biologie - Digitale Hochschulschriften der LMU - Teil 04/06

Play Episode Listen Later May 18, 2011

Wed, 18 May 2011 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/13089/ https://edoc.ub.uni-muenchen.de/13089/1/Kemkener_Claus.pdf Kemkemer, Claus Stefan Oliver ddc:570, ddc:500, Fakultät für

fakult gene expression chromosomal functional analysis drosophila melanogaster ddc:500 ddc:570

Creating Intimacy: Chromosomal Connections for Gene Expression and Crossovers

connections crossovers gene expression creating intimacy chromosomal

Play Episode Listen Later Mar 9, 2011 68:29

Audio PodcastAired date: 2/9/2011 3:00:00 PM Eastern Time

Creating Intimacy: Chromosomal Connections for Gene Expression and Crossovers

connections video podcasts crossovers gene expression creating intimacy chromosomal

Play Episode Listen Later Mar 9, 2011 68:29

Video PodcastAired date: 2/9/2011 3:00:00 PM Eastern Time

What are Y-Chromosomal Adam and Mitochondrial Eve?

GotQuestions.org Audio Pages - Archive 2009-2010

Play Episode Listen Later Dec 23, 2010

What are Y-Chromosomal Adam and Mitochondrial Eve? Is there really scientific evidence that everyone alive descended from one woman? Is there really scientific that every man alive today can trace his ancestry back to one man?

chromosomal mitochondrial eve

Phosphorylation of SU(VAR)3-9 by the chromosomal kinase JIL-1

Medizin - Open Access LMU - Teil 17/22

Play Episode Listen Later Apr 6, 2010

The histone methyltransferase SU(VAR)3-9 plays an important role in the formation of heterochromatin within the eukaryotic nucleus. Several studies have shown that the formation of condensed chromatin is highly regulated during development, suggesting that SU(VAR)3-9's activity is regulated as well. However, no mechanism by which this may be achieved has been reported so far. As we and others had shown previously that the N-terminus of SU(VAR)3-9 plays an important role for its activity, we purified interaction partners from Drosophila embryo nuclear extract using as bait a GST fusion protein containing the SU(VAR)3-9 N-terminus. Among several other proteins known to bind Su(VAR)3-9 we isolated the chromosomal kinase JIL-1 as a strong interactor. We show that SU(VAR)3-9 is a substrate for JIL-1 in vitro as well as in vivo and map the site of phosphorylation. These findings may provide a molecular explanation for the observed genetic interaction between SU(VAR)3-9 and JIL-1.

medizin gst drosophila jil kinase chromosomal phosphorylation

K. Caldecott - Chromosomal single-strand break repair and human genetic disease

Dna Repair

Play Episode Listen Later Feb 19, 2010 53:10

Keith Caldecott, Genome Damage and Stability Centre, University of Sussex, Brighton, East Susses, UK speaks on "Chromosomal single-strand break repair and human genetic disease". This seminar has been recorded by ICGEB Trieste

university uk single repair brighton strand sussex caldecott genetic disease chromosomal

Chromosomal Aberrations: Entrees to Core Pathways and Biomarkers in Cancer

Comprehensive Cancer Research Training Program

Play Episode Listen Later May 14, 2009 48:51

Dr. Michael Cleary discusses this work on the role of chromosomal aberrations in causing cancer and its implications for cancer treatment. (September 18, 2008)

cancer pathways biomarkers aberrations entrees chromosomal

The chromosomal passenger complex during mitotic progression

Fakultät für Biologie - Digitale Hochschulschriften der LMU - Teil 03/06

Play Episode Listen Later Jan 16, 2009

Fri, 16 Jan 2009 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/12589/ https://edoc.ub.uni-muenchen.de/12589/1/Klein_Ulf.pdf Klein, Ulf ddc:570, ddc:500, Fakultät für Biologie

complex klein progression passenger biologie ulf fakult chromosomal ddc:500 mitotic ddc:570

The Chromosomal High-Affinity Binding Sites for the Drosophila Dosage Compensation Complex

Medizin - Open Access LMU - Teil 15/22

Play Episode Listen Later Dec 1, 2008

Dosage compensation in male Drosophila relies on the X chromosome-specific recruitment of a chromatin-modifying machinery, the dosage compensation complex (DCC). The principles that assure selective targeting of the DCC are unknown. According to a prevalent model, X chromosome targeting is initiated by recruitment of the DCC core components, MSL1 and MSL2, to a limited number of so-called ``high-affinity sites'' ( HAS). Only very few such sites are known at the DNA sequence level, which has precluded the definition of DCC targeting principles. Combining RNA interference against DCC subunits, limited crosslinking, and chromatin immunoprecipitation coupled to probing high-resolution DNA microarrays, we identified a set of 131 HAS for MSL1 and MSL2 and confirmed their properties by various means. The HAS sites are distributed all over the X chromosome and are functionally important, since the extent of dosage compensation of a given gene and its proximity to a HAS are positively correlated. The sites are mainly located on noncoding parts of genes and predominantly map to regions that are devoid of nucleosomes. In contrast, the bulk of DCC binding is in coding regions and is marked by histone H3K36 methylation. Within the HAS, repetitive DNA sequences mainly based on GA and CA dinucleotides are enriched. Interestingly, DCC subcomplexes bind a small number of autosomal locations with similar features.

dna ga complex sites compensation medizin binding affinity dosage dcc drosophila chromosomal

Analysis of c-MYC-induced chromosomal instability and generation of a conditional microRNA expression system

Fakultät für Biologie - Digitale Hochschulschriften der LMU - Teil 03/06

Play Episode Listen Later Mar 31, 2008

Mon, 31 Mar 2008 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/8391/ https://edoc.ub.uni-muenchen.de/8391/1/Epanchintsev_Alexey.pdf Epanchintsev, Alexey ddc:

system generation expression induced instability conditional alexey microrna chromosomal ddc:500 ddc:570

Signposts Along the Chromosomal Highway: How FtsK Finds its Target

target highways signposts chromosomal

Play Episode Listen Later Jun 4, 2007 67:20

Enhanced Audio PodcastAired date: 5/30/2007 3:00:00 PM Eastern Time

Signposts Along the Chromosomal Highway: How FtsK Finds its Target

target highways signposts chromosomal

Play Episode Listen Later Jun 4, 2007 67:20

Enhanced Video PodcastAired date: 5/30/2007 3:00:00 PM Eastern Time

Chromosomal anchoring of linkage groups and identification of wing size QTL using markers and FISH probes derived from microdissected chromosomes in Nasonia(Pteromalidae : Hymenoptera)

Medizin - Open Access LMU - Teil 13/22

Play Episode Listen Later Jan 1, 2004

Nasonia vitripennis is a small parasitic hymenopteran with a 50-year history of genetic work including linkage mapping with mutant and molecular markers. For the first time we are now able to anchor linkage groups to specific chromosomes. Two linkage maps based on a hybrid cross (N. vitripennis x N. longicornis) were constructed using STS, RAPID and microsatellite markers, where 17 of the linked STS markers were developed from single microdissected banded chromosomes. Based on these microdissections we anchored all linkage groups to the five chromosomes of N. vitripennis. We also verified the chromosomal specificity of the microdissection through in situ hybridization and linkage analyses. This information and technique will allow us in the future to locate genes or QTL detected in different mapping populations efficiently and fast on homologous chromosomes or even chromosomal regions. To test this approach we asked whether QTL responsible for the wing size in two different hybrid crosses (N. vitripennis x N. longicornis and N. vitripennis x N. giraulti) map to the same location. One QTL with a major effect was found to map to the centromere region of chromosome 3 in both crosses. This could indicate that indeed the same gene/s is involved in the reduction of wing in N. vitripennis and N. longicornis. Copyright (C) 2003 S. Karger AG, Basel.

fish groups rapid wing medizin identification basel anchoring markers sts derived probes chromosomes linkage chromosomal copyright c qtl karger ag

Die Bedeutung der Embryonenqualität im Rahmen des Embryotransfers beim Rind – eine Literaturstudie

Tierärztliche Fakultät - Digitale Hochschulschriften der LMU - Teil 01/07

Play Episode Listen Later Jul 19, 2002

The aim of this work was to describe the importance of the estimation of the quality of cattle embryos in embryo transfer as well as to discuss the causes of the appearance of the variable embryo qualities after superovulation and the different possibilities to assess the embryo quality. After superovulation there are always variable embryo quality observed. The reasons for this are versatile. An important, the result of a superovulation treatment influencing factor, is the donor cow. Both the individual disposition, the age and as well healthy status and the stressexposition of the animals are playing an important role. The ovary reactions are rather essentially influenced by the existence of a dominant follicle at the moment of introduction of a superovulation treatment. By removal of dominant follicle the results can significant be improved. Another important factor is the sort of a gonadotrophin used for superovulation. The reaction to a superovulation treatment is not just depending on the selection of the gonadotroph hormone, but also on the composition of the preparations, the doses und the way of application. Because the morphological evaluation of embryo quality is subjected to subjective influences, it should attach importance to the training of the evaluating persons, to receive comparable results. The importance of assessment of embryo quality to select embryos is considerable. The results of embryo transfer, the pregnancy rates, are essentially depending on the quality of the transferred embryos. The survival of embryos after kryopreservation is also influenced by the embryo quality. Embryo quality can be evaluated by different approaches: if the selected embryo has to be transferred, the technique to estimate embryo quality must not be invasive. In the practice of the embryo transfer embryo quality is estimated before transfer by gross embryo morphology. However, this method is a rather subjective possibility for assessment of the embryo quality. More accurate date can be obtained by the use of invasive techniques. Metabolic tests to evaluate embryo viability include measurement of nutrient uptake, energy metabolism and oxygen uptake. Enzyme leakage and hormone or growth factor production can also give more details on the quality of embryos. Techniques which might partially are able to affect the embryo are the determination of the freezing resistance and vital staining. With vital staining, membrane integrity, which is critical for embryo survival, can be assessed by means of fluorescent probes. The most common staining methods for evaluating embryo quality are DAPI and FDA. These two fluorescent probes do not alter the embryo, so that you can still transfer the embryo after these examinations. Invasive assessment of the embryo quality mostly involves a kind of fixation or staining of the embryo and so they are not suitable for the practical use of the embryo transfer. Cytogenetic analysis of embryos is an important issue for caryotyping. Chromosomal deviations are known to cause early embryonic mortality in cattle. Determination of the total cell number and the allocation of these cells to the inner cell mass (ICM) and trophectoderm (TE) after differential staining of these cells give more details on the quality of an embryo.

fda beim determination metabolic invasive die bedeutung embryos enzyme rind icm chromosomal cytogenetics ddc:500 dapi ddc:590 literaturstudie

X-Inaktivierung bei heterozygoten Überträgerinnen X-chromosomal gebundener Adrenoleukodystrophie

Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 01/19

Play Episode Listen Later Jun 6, 2002

Die X-chromosomal gebundene Adrenoleukodystrophie stellt eine vererbte Störung der peroxisomalen ß-Oxidation von Fettsäuren dar, die zu einer Akkumulation von überlangkettigen Fettsäuren in allen Körperflüssigkeiten führt. X-ALD wird durch Mutationen im ALD-Gen verursacht, welches ein peroxisomales Membranprotein aus der Superfamilie der ABCTransporter (ATP-binding cassette) kodiert. Die Erkrankung führt zu einer fortschreitenden Demyelinisierung des ZNS, einer peripheren Neuropathie sowie adrenokortikaler Insuffizienz. Es findet sich jedoch eine sehr hohe Variabilität phänotypischer Verlaufsformen. Aus bislang unklaren Gründen zeigt ein Großteil der heterozygoten Überträgerinnen - im Gegensatz zu der überwiegenden Mehrzahl anderer X-chromosomal vererbter Erkrankungen - sowohl die biochemischen als auch die klinischen Merkmale einer X-ALD in abgemilderter Form. Zur Erklärung dieses Phänomens sollte die Untersuchung der X-Inaktivierung heterozygoter Überträgerinnen beitragen, da in der Vergangenheit postuliert wurde, daß eine zugunsten des mutierten ALD-Allels verschobene X-Inaktivierung (mit-)verantwortlich sei für das Auftreten erhöhter Konzentrationen überlangkettiger Fettsäuren und neurologischer Symptome bei ALDÜberträgerinnen. Zur Untersuchung der X-Inaktivierung wurde der hochinformative Androgenrezeptor-Test etabliert und in einigen Punkten modifiziert und verbessert. Das Testprinzip beruht auf der PCRAmplifikation eines hochpolymorphen CAG-Repeats im Exon 1 des Androgenrezeptor-Gens nach einer Inkubation von genomischer DNA mit methylierungssensitiven Restriktionsenzymen. Die Verwendung eines fluoreszenz-markierten Primers in der PCR ermöglichte eine präzise automatisierte Auswertung mittels Fragmentanalyse. Neben einer Bestimmung der überlangkettigen Fettsäuren im Plasma wurde der Heterozygotenstatus der ALD-Überträgerinnen durch eine Mutationsanalyse des ALD-Gens eindeutig belegt. Dabei konnten in allen 15 untersuchten Familien Mutationen im ALD-Gen identifiziert werden. Bei 8 Familien fanden sich neue, bislang unveröffentlichte Mutationen. Das Mutationsspektrum umfaßte 10 Missense- (67 %), zwei Nonsense- (13 %), zwei Splice-Site- Mutationen (13 %) und eine Frameshift-Mutation (6 %). Die X-Inaktivierungsmuster in Leukozyten heterozygoter ALD-Überträgerinnen wurden erstmals im Vergleich zu einem verwandten und einem nicht-verwandten Kontrollkollektiv untersucht. Bei 7 von 22 Überträgerinnen (32 %) zeigte sich eine ausgeprägte Verschiebung der X-Inaktivierung (Skewing) zugunsten eines Allels (> 80:100). Im Gegensatz dazu war ein ausgeprägtes Skewing weder bei den Nicht-Überträgerinnen aus ALD-Familien noch bei den Kontrollen zu beobachten. In diesen Gruppen fanden sich nur random X-Inaktivierung und mildes Skewing zu annähernd gleichen Teilen. Bei beiden Gruppen glich die Verteilung der XInaktivierungsmuster einer Gauss’schen Normalverteilungskurve. Die Unterschiede zwischen ALD-Überträgerinnen und unverwandtem Kontrollkollektiv erwiesen sich als statistisch hochsignifikant. Eine Korrelation zwischen dem Grad der X-Inaktivierung in Leukozyten heterozygoter ALDÜberträgerinnen und deren biochemischen Parametern (Konzentration überlangkettiger Fettsäuren im Plasma) war nicht nachweisbar. Unsere Daten belegen, daß das häufige Auftreten einer Verschiebung der X-Inaktivierung zugunsten eines Allels bei ALD-Überträgerinnen mit dem mutierten ALD-Allel in Zusammenhang steht und wahrscheinlich durch Selektionsmechanismen verursacht wird. Diese Selektionsmechanismen wirken nach dem primären X-Inaktivierungsprozeß. Andere sekundäre Einflußvariablen wie Alter oder genetische Faktoren des X-Inaktivierungsprozesses selbst wurden mit hoher Wahrscheinlichkeit ausgeschlossen. Anhand von Transkriptanalysen in kultivierten Fibroblasten konnte darüberhinaus gezeigt werden, daß einerseits eine Selektion zugunsten des Wildtyp-Allels, andererseits jedoch auch eine Selektion zugunsten des mutierten Allels vorkommt. Der bislang in der Literatur postulierte Selektionsvorteil des mutierten ALD-Allels wird somit in Frage gestellt.

dna dabei bei gro vergangenheit neben andere nonsense grad vergleich familien teilen faktoren gruppen pcr plasma punkten symptome anhand gegensatz erkrankungen wahrscheinlichkeit bestimmung untersuchung auftreten merkmale im gegensatz verteilung auswertung verschiebung ald fetts oxidation mutationen mehrzahl selektion primers exon die verwendung variabilit chromosomal konzentrationen skewing die erkrankung unsere daten akkumulation leukozyten neuropathie inkubation zur untersuchung zns insuffizienz fibroblasten ddc:600 inaktivierung missense eine korrelation kontrollkollektiv allels membranprotein mutationsanalyse

Nuevas perspectivas en la investigación del cáncer (III): Chromosomal Translocations, Cancer and Therapeutic Targets

Fundación Juan March

Play Episode Listen Later Mar 15, 1999 68:16

Más información de este acto

cancer targets nuevas therapeutic investigaci perspectivas chromosomal

Chromosomal Gains and Losses in Uveal Melanomas Detected by Comparative Genomic Hybridization

Medizin - Open Access LMU - Teil 11/22

Play Episode Listen Later Jan 1, 1994

Eleven uveal melanomas were analyzed using comparative genomic hybridization (CGH). The most abundant genetic changes were loss of chromosome 3, overrepresentation of 6p, loss of 6q, and multiplication of 8q. The smallest overrepresented regions on 6p and 8q were 6pterp21 and 8q24qter, respectively. Several additional gains and losses of chromosome segments were repeatedly observed, the most frequent one being loss of 9p (three cases). Monosomy 3 appeared to be a marker for ciliary body involvement. CGH data were compared with the results of chromosome banding. Some alterations, e.g., gains of 6p and losses of 6q, were observed with higher frequencies after CGH, while others, e.g., 9p deletions, were detected only by CGH. The data suggest some similarities of cytogenetic alterations between cutaneous and uveal melanoma. In particular, the 9p deletions are of interest due to recent reports about the location of a putative tumor-suppressor gene for cutaneous malignant melanoma in this region.

eleven losses gains medizin comparative genomic detected hybridization chromosomal cgh melanomas

Comparative Genomic Hybridization of Human Malignant Gliomas Reveals Multiple Amplification Sites and Nonrandom Chromosomal Gains and Losses

Medizin - Open Access LMU - Teil 11/22

Play Episode Listen Later Jan 1, 1994

Nine human malignant gliomas (2 astrocytomas grade III and 7 glioblastomas) were analyzed using comparative genomic hybridization (CGH). In addition to the amplification of the EGFR gene at 7p12 in 4 of 9 cases, six new amplification sites were mapped to 1q32, 4q12, 7q21.1, 7q21.2-3, 12p, and 22q12. Nonrandom chromosomal gains and losses were identified with overrepresentation of chromosome 7 and underrepresentation of chromosome 10 as the most frequent events (1 of 2 astrocytomas, 7 of 7 glioblastomas). Gain of a part or the whole chromosome 19 and losses of chromosome bands 9pter-23 and 22q13 were detected each in five cases. Loss of chromosome band 17p13 and gain of chromosome 20 were revealed each in three cases. The validity of the CGH data was confirmed using interphase cytogenetics with YAC clones, chromosome painting in tumor metaphase spreads, and DNA fingerprinting. A comparison of CGH data with the results of chromosome banding analyses indicates that metaphase spreads accessible in primary tumor cell cultures may not represent the clones predominant in the tumor tissue.

loss dna losses gains sites medizin malignant comparative genomic amplification egfr yac hybridization chromosomal gliomas cgh

Cloning, expression, and chromosomal localization of the 140-kilodalton subunit of replication factor C from mice and humans

Medizin - Open Access LMU - Teil 11/22

Play Episode Listen Later Jan 1, 1994

We have isolated a full-length mouse cDNA encoding a lysine-rich protein of 1,131 amino acids with a calculated molecular mass of 126 kDa. The protein binds in a sequence-unspecific manner to DNA, is localized exclusively in the nucleus, and contains a putative ATP binding site and a stretch of 80 amino acids with homology to the carboxy terminus of prokaryotic DNA ligases. On the basis of the following facts, we conclude that the isolated cDNA encodes the 140-kDa subunit of mouse replication factor C (mRFC140). (i) The sequence around the ATP binding site shows significant homology to three small subunits of human replication factor C. (ii) Polyclonal antibodies raised against the protein encoded by this cDNA cross-react with the 140-kDa subunit of purified human replication factor C (hRFC140) and recognize in mouse cell extracts an authentic protein with an apparent molecular mass of 130 kDa. (iii) Sequence comparison with a human cDNA isolated by using tryptic peptide sequence information from purified hRFC140 revealed 83% identity of the encoded proteins. The mRFC140 gene is ubiquitously expressed, and two mRNAs approximately 5.0 and 4.5 kb long have been detected. The gene was mapped by in situ hybridization to mouse chromosome 5, and its human homolog was mapped to chromosome 4 (p13-p14).

dna humans factor expression mice medizin atp sequence cloning localization replication kda mrnas chromosomal cdna subunit

Application of Pulsed Field Gel Electrophoresis to Determine γ-ray-induced Double-strand Breaks in Yeast Chromosomal Molecules

Medizin - Open Access LMU - Teil 10/22

Play Episode Listen Later Jan 1, 1993

The frequency of DNA double-strand breaks (dsb) was determined in yeast cells exposed to γ-rays under anoxic conditions. Genomic DNA of treated cells was separated by pulsed field gel electrophoresis, and two different approaches for the evaluation of the gels were employed: (1) The DNA mass distribution profile obtained by electrophoresis was compared to computed profiles, and the number of DSB per unit length was then derived in terms of a fitting procedure; (2) hybridization of selected chromosomes was performed, and a comparison of the hybridization signals in treated and untreated samples was then used to derive the frequency of dsb.

dna field breaks application determine strand medizin yeast induced molecules dsb pulsed chromosomal electrophoresis genomic dna

Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes

Medizin - Open Access LMU - Teil 10/22

Play Episode Listen Later Jan 1, 1993

Colored chromosome staining patterns, termed chromosomal ‘bar codes’ (CBCs), were obtained on human chromosomes by fluorescence in situ hybridization (FISH) with pools of Alu-PCR products from YAC dones containing human DNA inserts ranging from 100 kbp to 1 Mbp. In contrast to conventional G- or R-bands, the chromosomal position, extent, Individual color and relative signal intensity of each ‘bar’ could be modified depending on probe selection and labeling procedures. Alu-PCR amplification products were generated from 31 YAC clones which mapped to 37 different chromosome bands. For multiple color FISH, Alu-PCR amplification products from various clones were either biotinylated or labeled with digoxigenin. Probes from up to twenty YAC clones were used simultaneously to produce CBCs on selected human chromosomes. Evaluation using a cooled CCD camera and digital image analysis confirmed the high reproducibility of the bars from one metaphase spread to another. Combinatorial FISH with mixtures of whole chromosome paint probes was applied to paint seven chromosomes simultaneously in different colors along with a set of YAC clones which map to these chromosomes. We discuss the potential to construct analytical chromosomal bar codes adapted to particular needs of cytogenetic investigations and automated image analysis.

dna fish individual painting evaluation codes medizin clones situ colored probes chromosomes ccd yac mbp hybridization fluorescence multicolor cbcs chromosomal alu pcr

Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla

classical gorilla medizin molecular demonstrate analyses reciprocal translocation chromosomal cytogenetics

Play Episode Listen Later Jan 1, 1992

The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred.

Long-Range Chromosomal Mapping of the Carcinoembryonic Antigen (CEA) Gene Family Cluster

Play Episode Listen Later Jan 1, 1992

A long-range physical map of the carcinoembryonic antigen (CEA) gene family cluster, which is located on the long arm of chromosome 19, has been constructed. This was achieved by hybridization analysis of large DNA fragments separated by pulse-field gel electrophoresis and of DNA from human/rodent somatic cell hybrids, as well as the assembly of ordered sets of cosmids for this gene region into contigs. The different approaches yielded very similar results and indicate that the entire gene family is contained within a region located at position 19q13.1–q13.2 between the CYP2A and the D19S15/D19S8 markers. The physical linkage of nine genes belonging to the CEA subgroup and their location with respect to the pregnancy-specific glycoprotein (PSG) subgroup genes have been determined, and the latter are located closer to the telomere. From large groups of ordered cosmid clones, the identity of all known CEA subgroup genes has been confirmed either by hybridization using gene-specific probes or by DNA sequencing. These studies have identified a new member of the CEA subgroup (CGM8), which probably represents a pseudogene due to the existence of two stop codons, one in the leader and one in the N-terminal domain exons. The gene order and orientation, which were determined by hybridization with probes from the 5′ and 3′ regions of the genes, are as follows: cen/3′-CGM7-5′/3′-CGM2-5′/5′-CEA-3′/5′-NCA-3′/5′- CGM1-3′/3′-BGP-5′/3′-CGM9-5′/3′-CGM6-5′/5′-CGM8-3′/PSGcluster/qter.

family dna mapping psg medizin cluster long range cea antigens nca bgp chromosomal carcinoembryonic

Chromosomal in situ suppression hybridization of immunologically classified mitotic cells in hematologic malignancies

dna medizin cells situ classified suppression ciss hybridization hematologic malignancies chromosomal mitotic

Play Episode Listen Later Jan 1, 1992

Chromosomal in situ suppression (CISS) hybridization was performed with library DNA from sorted human chromosomes 8, 9, 15, 17, 21, and 22 on immunologically stained bone marrow cells of four patients with a hematologic neoplasm, including two patients with myelodysplastic syndrome and trisomy 8, one patient with promyelocytic leukemia bearing the translocation t(15;17)(q22;q11-12), and one patient with chronic myeloid leukemia and the translocation t(9;22)(q34;q11). In all patients, the results of conventional karyotype analysis could be confirmed by one- or two-color CISS hybridization using the appropriate chromosome-specific libraries. Our results show that CISS hybridization can detect both numerical and structural chromosome changes in immunologically classified cells with high specificity and reliability. The fact that chromosome spreads of very poor quality can now be included in such analyses is a decisive advantage of this approach. In addition, the suitability of this approach for interphase cytogenetics is discussed.

Translocation (8;21) in acute nonlymphocytic leukemia delineated by chromosomal in situ suppression hybridization

dna medizin acute situ leukemia suppression hybridization translocation chromosomal

Play Episode Listen Later Jan 1, 1991

In situ suppression hybridization with recombinant bacteriophage DNA libraries for chromosomes 8 and 21 was performed in two cases of acute nonlymphocytic leukemia, type FAB M2. In both cases, cytogenetic analysis by conventional G-banding revealed t(8;21)(q22;q22). In situ suppression hybridization was able to prove the reciprocal nature of the translocation in both cases by identifying the terminal end of chromosome 21 translocated to the derivative chromosome 8q−.

Paintig of defined chromosomal regions by in situ suppression hybridization of libraries from laser-microdissected chromosomes