安徽医科大学：《医学遗传学》课程教学资源（课件讲稿，打印版）05-principles of clinical cytogenetics

Medical Genetics Chapter 5 Principles of Clinical Cytogenetics 1 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Outline ◆Review; ◆Introduction; Chromosome abnormalities; Parent-of-origin effects; Studies of chromosomes in human meiosis; Mendelian disorders with cytogenetic effects; Cytogenetic analysis in cancer. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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1.Review:Human chromosome chromosome disorders 1.1Morphology of Human chromosome ●Chromatid Telomeres Satellite ●Centromere Distal Secondary constriction (primary constriction) Arm ●Short arm=p Proximal ●Long arm=q Chromatid Centromere ●Satellite Secondary constriction Arm ●Telomere Telomeres This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 1.2 Three kinds of human chromosome Metacentric chromosome Submetacentric chromosome Acrocentric chromosome Metacentric Submetacentric Acrocentric Short arm p Sak、 Satellite Centromere Long arm q 18 21 2 Elsevier.Jorde et al.:Medical Genetics 3e-www.studentconsult.com This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 1.3 Karyotype karyotyping Karyotype:The particular chromosome complement within a single cell of an individual arranged according to standard classification as defined both the number and morphology of the chromosome in mitotic metaphase. Karyotyping:a laboratory technique used to analyze chromosomes(from single cells)in order to look for any major chromosomal anomaly which may cause a genetic condition. 5 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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糕糕 糕糕 黑群糕群糕糕黑 糕糕糕糕糕M糕器 L 美X Karyotype Analyze'metaphase spread' 5 ml venous blood Digest with trypsin and stain Add phytohemagglutinin with Giemsa and culture medium 6 Culture at 37"C Soread cells onto for 3 days slide by dropping Add cotchicine and hypotonic saline Cells fixed 6 Elsevier.Tumnpenny Ellard:Emery's Elements of Medical Genetics 13e-www.studentconsult.com This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 2.Introduction to cytogenetics 2.1 Clinical indications for chromosome analysis Problems of early growth and development. Stillbirth and neonatal death. ●Fertility problems.. ·Family history.. ●Neoplasia. Pregnancy in a woman of advanced age. 7 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Fetal samples for cytogenetic analysis are commonly obtained in two ways: Amniocentesis -sample taken from the fluid of the amniotic sac. Chorionic Villus Sampling sample taken fetal tissue that forms part of the placenta. 8 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Amniocentesis 16-week fetus ultrasound- DNA Centrifuged Fetal cells Chorionic Villus Sampling 10-11 week fetus DNA Cells of chorion AVS 9 This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 2.2 Chromosome ldentification Abbreviation of Band Treatment Staining Chromosome method method band QFQ Q Fluorescence Quinacrine GTG G Trypsin Giemsa RHG R Heat Giemsa CBG C Barium Giemsa hydroxide This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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