(临床遗传课件)Chapter2 Principles of Clinical Cytogenetics宣讲培训.pptVIP

1 Principles of  Clinical Cytogenetics Department of Medical Genetics Peking University Baiyan Wu 2 Introduction to Cytogenetics Cytogenetics（细胞遗传学） Medical Cytogenetics Clinical Cytogenetics 3 Clinical Indications for Chromosome Analysis Problems of early growth and development Stillbirth and neonatal death. （死产、新生儿死亡） Fertility problems. （生育问题） Family history （家族史） Neoplasia （肿瘤） Pregnancy in a woman of advanced age（高龄孕妇） 4 Chromosome Identification 5 A chromosome at metaphase 8 Chromosome Identification 染色体显带（Banding）技术： Q Banding: quinacrine mustard G Banding: trypsin(胰蛋白酶） Giemsa（吉姆萨） R Banding: reverse of G or Q banding 9 李璞主编,2004 陈竺主编,2005 Q Banding 10 G Banding 11 R banding 12 Special Cytological Procedures C Banding: staining the centromeric region, constitutive heterochromatin T Banding: telomere High-Resolution Banding: prophase or prometaphase 13 C Banding 14 High-Resolution Banding 高分辨显带 Chromosomes stained at the stage of prophase or prometaphase, detecting a subtle structural abnormality 15 16 17 18 19 20 Karyotype（核型） The karyotype is a photograph of all of the chromosomes of an individual cell; the term covers the number, relative sizes and structure of the chromosomes. 21 Karyotype Analysis（核型分析） Arranging the chromosomes of a cell into a karyotype, then analysis and compare with ISCN. 22 ISCN An International System for Human Cytogenetic Nomenclature （人类细胞遗传学国际命名体系） 23 A Normal male Karyotype: 46,XY 24 A normal female karyotype: 46,XX 25 26 Chromosome polymorphisms are normal variations in the appearance of chromosomes. Be inherited in a Mendelian fashion Constitutive heterochromatin(结构异染色质） Not chromosomal abnormality in cli