天津医药

• 论著 • 上一篇    下一篇

天津汉族群体D21S11、D21S1440和Penta D STR基因座遗传多态性的研究

史云芳1,孙璐2,李岩，3,李晓洲1,张秀玲1,张颖1,岳天孚1   

  1. 1. 天津医科大学总医院
    2. 天津市中心妇产科医院
    3. 天津医大总医院妇产科
  • 收稿日期:2011-07-06 修回日期:2012-01-18 出版日期:2012-08-15 发布日期:2012-08-15
  • 通讯作者: 史云芳

To Investigate the Genetic Polymorphisms of STR Loci D21S11, D21S1440 and Penta D in Tianjin Han Population

  • Received:2011-07-06 Revised:2012-01-18 Published:2012-08-15 Online:2012-08-15
  • Contact: Yun-Fang SHI

PDF (PC)

2463

摘要： 目的：研究天津汉族群体21号染色体上D21S11、D21S1440和Penta D 3个短串联重复序列（STR）基因座遗传多态性，为唐氏综合征（DS）基因诊断和产前基因诊断提供实验依据。方法：收集天津无亲缘关系的汉族个体332例，定量荧光PCR（QF-PCR）扩增STR基因座，ABI PRISM 377测序胶检测PCR扩增产物。根据3个STR基因座的基因型分布进行Hardy-Weinberg平衡检验。计算3个STR基因座基因型频率、观察杂合度（Ho）、多态信息量（PIC）、个体识别率（DP）、非父排除率（PE）等群体遗传学数据。结果：D21S11、D21S1440和Penta D 3个STR基因座分别检出6、4、8个等位基因，基因型分布均符合Hardy-Weinberg平衡定律。3个基因座的Ho分别为0.617、0.705、0.867，PIC分别为0.755、0.596、0.795，DP分别为0.916、0.794、0.931，PE分别为0.312、0.436、0.730。结论：D21S11、D21S1440和Penta D STR基因座在天津汉族群体杂合度高，是21号染色体良好的遗传标记，对DS的基因诊断有指导意义。

关键词: 串联重复序列, 唐氏综合征, 多态现象, 遗传, 聚合酶链反应, 天津

Abstract: Objective: To investigate the genetic polymorphisms of 3 short tandem repeat (STR) loci D21S11，D21S1440 and Penta D on chromosome 21 in Tianjin Han population. The aim of the study was to provide basic data for the use of 3 STR loci in gene diagnosis and prenatal gene diagnosis of Down syndrome (DS). Methods: Blood samples from 332 unrelated individuals of Tianjin Han population were collected. QF-PCR and ABI PRISM 377 sequence were used. The frequencies of the genotypes were tested with Hardy-Weinberg equilibrium. Genetic analysis was performed to conclude some data of population genetics such as the frequency of the alleles，the heterozygosity of observation(Ho)，the polymorphism information content(PIC)，the probability of discrimination power(DP)，and the probability of exclusion(PE). Results: 6，4，8 alleles of D21S11，D21S1440 and Penta D were observed respectively. The frequencies of the genotypes were in good agreement with Hardy-Weinberg equilibrium. The Ho of 3 STR loci were 0.617, 0.705, 0.867. The PIC were 0.755, 0.596, 0.795. The DP were 0.916, 0.794, 0.931. The PE were 0.312, 0.436, 0.730. Conclusion: D21S11，D21S1440 and Penta D STR loci had high heterozygosity in Tianjin Han population. They were good genetic markers of chromosome 21 and can be used in gene diagnosis and prenatal gene diagnosis of DS.

Key words: tandem repeat sequences, down syndrome, polymorphism, genetic, polymerase chain reaction, TIANJIN