| 皖南地区汉族人群21号染色体上2个STRs位点的多态性分析 |
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| 引用本文： | 李慧,窦本芝,李铁臣,孙青.皖南地区汉族人群21号染色体上2个STRs位点的多态性分析[J].皖南医学院学报,2010,29(3):169-172. |
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| 作者姓名： | 李慧 窦本芝 李铁臣 孙青 |
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| 作者单位： | 1. 皖南医学院附属弋矶山医院妇产科,安徽芜湖,241001
2. 皖南医学院分子生物学研究室,安徽芜湖,241002 |
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| 基金项目： | 芜湖市科技计划重点项目 |
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| 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。
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| 关 键 词： | 唐氏综合征 短串联重复序列 遗传多态性 产前诊断 |
Genetic polymorphism of 2 STRs loci on chromosome 21 in Chinese Han population from South Anhui province |
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| LI Hui,DOU Ben-zhi,LI Tie-chen,SUN Qing.Genetic polymorphism of 2 STRs loci on chromosome 21 in Chinese Han population from South Anhui province[J].Acta Academiae Medicinae Wannan,2010,29(3):169-172. |
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| Authors: | LI Hui DOU Ben-zhi LI Tie-chen SUN Qing |
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| Institution: | LI Hui,DOU Ben-zhi,LI Tie-chen,SUN Qing Department of Obstetrics and Gynecology,Yijishan Hospital,Wannan Medical University,Wuhu 241001,China |
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| Abstract: | 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 vari... |
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| Keywords: | Down syndrome short tandem repeat(STR) genetic polymorphism prenatal diagnosis |
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