摘要
目的:研究21号染色体上2个短串联重复序列位点(D21S11、D21S1409)在安徽皖南地区汉族人群中的遗传多态性,评价它们在唐氏综合征产前诊断中的应用价值。方法:采用聚合酶链反应、聚丙烯酰胺凝胶电泳和银染技术,对皖南地区汉族无亲缘关系的90名个体的样本进行检测。结果:D21S11和D21S1409位点均由多个等位片段构成,片段大小分别在202～260bp和173～233p之间。两个位点的观察杂合度分别为0.4778和0.6222。结论:D21S1409有较高的杂合度,可作为唐氏综合征产前诊断的遗传标志。
Objective：To investigate the genetic polymorphism of 2 short tandem repeats （STRs） loci D21S11 and D21S1409 on chromosome 21 in Chinese Han population from South Anhui province for the role in the prenatal diagnosis of Down syndrome.Methods：DNA samples of 90 unrelated individuals from South Anhui were examined by polymerase chain reaction（PCR）,polyacrylamide gel electrophoresis （PAGE） and silver-staining.Results：The polymorphic loci of D21S11 and D21S1409 consisted of allele frequencies,and the alleles varied respectively in size from 202 to 260 bp and 173 to 233 bp.The observed heterozygosity of D21S11 and D21S1409 were 0.4778 and 0.6222,respectively.Conclusion：The higher heterozygosity of D21S1409 may serve as the candidate genetic marker to the prenatal diagnosis of Down syndrome.
出处
《皖南医学院学报》
CAS
2010年第3期169-172,共4页
Journal of Wannan Medical College
基金
芜湖市科技计划重点项目(2008728)
关键词
唐氏综合征
短串联重复序列
遗传多态性
产前诊断
Down syndrome
short tandem repeat（STR）
genetic polymorphism
prenatal diagnosis
