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

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。

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

Objective: To acquired the allele frequencies of D21S11 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: D21S11 and PentaD gene locus not only can be used in paternity identity but also in Down's syndrome gene diagnosis.