【PPT讲义】于世辉-染色体异常的遗传咨询.pdf

Chromosome Abnormalities and Genetic Counseling 于世辉(Shihui Yu) MD, PhD, FACMG 金域检验 （KingMed Diagnostics)  染色体和基因组  染色体分析技术  有丝分裂和减数分裂  染色体异常的类型及机制  常见染色体异常及其遗传咨询  染色体分析技术的临床应用及细胞遗传学的技术规范  染色体技术与芯片及下代基因组测序技术的结合和融合 The structure of a cell 染色体和基因组  23 对染色体 2 x 30 亿个碱基  编码21,000 个基因编码序列占整个基因组的1.5% The basis of chromosome structure A typical chromosome at metaphase of mitosis The basis of chromosome banding 染色体分析技术 Walther Flemming 1882 Theophilus Painter 1921 Joe Hin Tjio 1956 1978 1970 1990s 2000s 2010s Karyotype Designation 46,XX 46,XY mos 47,XY,21/46,XY 45,X[15]/47,XXX[10]/46,XX[23] 46,XY[3]//46,XX[17] //46,XX[20] 46,XY[20]// . . . . .ish del(22)(q13.3q13.3)(ARSA-) nuc ish(ABL1,BCR)x2[400] arr[hg18]4q32.2q35.1(163,146,681-183,022,312)x1 The cell cycle and mitosis Meiosis I Meiosis II Gametogenesis Spermatogenesis Oogenesis 染色体异常的类型 胚系基因及基因组病 （遗传病）  染色体数量异常  Trisomy 21 （唐氏综合症）  Trisomy 18  Trisomy 13  Sex chromosomal aneuploidies  Mosaic trisomies of other chromosomes  染色体结构变化 Thompson Thompson Genetics In Medicine. Eighth Edition  More than 200 known disorders  More than 1000 rare abnormalities 中国年出生1600-1800  单基因病(more than 8,000) 万，严重出生缺陷发  Dominant 生率