D21S11、PentaD基因座的遗传多态性及其在唐氏综合征基因诊断中的初步应用研究  

The Polymorphism of D21S11 and PentaD Locus and its Application in Down's Syndrome Gene Diagnosis

作　　者：王琳[1] 王毅[1] 薛红[2] 马旭[1] 

机构地区：[1]国家人口计生委科学技术研究所,北京100081 [2]北京市妇产医院遗传室

出　　处：《中国计划生育学杂志》2006年第10期609-611,共3页Chinese Journal of Family Planning

摘　　要：目的:获得北京汉族D21S11、PentaD基因座群体遗传学数据,探讨其在唐氏综合征基因诊断中应用的可行性。方法:115份无血缘关系的汉族个体抗凝血样和10例唐氏综合征核心家系血样均采自北京地区。DNA IQ提取DNA,多重PCR扩增,自动基因分析仪收集电泳结果数据,基因扫描分析软件分析计算扩增产物片断相对大小,基因分型软件进行样本基因型分型。结果:全部样本的每个STR基因座都获得了清晰的基因型分型。基因座D21S11和PentaD在北京汉族群体中基因型的分布符合Hardy-Weinberg平衡且杂合度分别为0.9217、0.8260。唐氏综合征核心家系的检测结果与细胞遗传学诊断结果完全一致。结论:基因座D21S11和PentaD不仅可以应用于北京地区汉族群体的个体识别和亲子鉴定,同时可以快速完成唐氏综合征的基因诊断。Objective： To acquired the allele frequencies of D21Sll and PentaD gene locus among Beijing Han population. Methods： 115 healthy people were randomly selected in Beijing district, and 10 Down＇s syndrome trio families were also studied. DNA was isolated by DNA - IQ method. Multiple - PCR was performed. Results： All the samples have clear genotype. D21S11 and PentaD gene locus among Beijing Han population are polymorphic. Chi -square test indicated that the distribution of genotypes agreed with Hardy - Weinberg equilibrium （ P 〉 0. 05 ）. And the analyzing results of Down＇s syndrome trio family were identical with the results of cyto -genetics test. Conclusion： D21 S11 and PentaD gene locus not only can be used in paternity identity but also in Downg syndrome gene diagnosis.

关 键 词：短患联重复序列多态标记 遗传多态性 唐氏综合征 

分 类 号：R394[医药卫生—医学遗传学]