现代检验医学杂志2011，Vol.26Issue(3)：12-14,3.DOI:10.3969/j.issn.1671-7414.2011.03.004
STR-PCR检测唐氏综合征额外21号染色体亲源性及不分离时期
Identification of Parental Origin and Meiotic Stage of Nondisjunction in Down Syndrome by STR-PCR Analysis
摘要
Abstract
Objective To identify the parental origin of the extra chromosomes,as well as the stage of nondisjunction by STR-PCR ,so as to investigate the etiology of Down syndrome. Methods In 2003～2004, 10 patients with Down syndrome and their parents from Guangzhou were detected by STR-PCR with D21s11,D21S1412 and D21s1411,which was within or near the Down syndrome critical region (DSCR). Results Of the 10 cases Down syndrome patients,parental origin was maternal in 8 cases,of which 7 derived from the nondisjunction in the meiotic Ⅰ (MⅠ) period,1 occurred in meiotic Ⅱ (MⅡ) period. Conclusion STR-PCR technique could effectively identify the parental origin of extra chromosome and the stage of nondisjunction in Down syndrome patients. The majority of Down syndrome is from the maternal nondisjunction in meiotic Ⅰ (MⅠ) period,and advanced maternal age is one of the important factors.关键词
唐氏综合征/减数分裂不分离/短串联重复序列Key words
down syndrome/meiotic nondisjunction /short tandem repeat分类
医药卫生引用本文复制引用
张慧敏,孙筱放,黎青,李少英,刘维强,马晓燕..STR-PCR检测唐氏综合征额外21号染色体亲源性及不分离时期[J].现代检验医学杂志,2011,26(3):12-14,3.基金项目
广州市科技攻关重大项目课题(2004E1-E0013). （2004E1-E0013）
