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天津汉族胎儿D18S53、D18S59和D18S488 3个STR基因座遗传多态性研究

李晓洲1,刘静1,史云芳1,琚端1,李岩，2,岳天孚1,张颖1   

  1. 1. 天津医科大学总医院
    2. 天津医大总医院妇产科
  • 收稿日期:2012-12-18 修回日期:2013-09-06 出版日期:2014-02-15 发布日期:2014-02-15
  • 通讯作者: 李晓洲

To Investigate the Genetic Polymorphisms of STR Loci D18S53， D18S58 and D18S488 in Tianjin Han Fetus

  • Received:2012-12-18 Revised:2013-09-06 Published:2014-02-15 Online:2014-02-15

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摘要： 目的：研究天津汉族胎儿18号染色体上D18S53、D18S58和D18S488 3个短串联重复序列（STR）基因座遗传多态性，探讨定量荧光PCR（QF-PCR）结果判定标准，为18-三体综合征（ES）基因诊断和产前基因诊断提供实验依据。方法：收集天津地区64例绒毛和374例羊水样本， QF-PCR扩增STR基因座，4%聚丙烯酰胺凝胶电泳，ABI PRISM 377自动测序仪扫描电泳图，GeneScan软件分析荧光信号定量。根据3个STR基因座的基因型分布进行Hardy-Weinberg（H-W）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：D18S53、D18S58和D18S488 3个STR基因座分别检出15、13、15个等位基因，基因型分布均符合H-W平衡定律。3个基因座的Ho分别为0.797、0.847和0.792；PIC分别为0.81、0.75和0.73；PD分别为0.944、0.901和0.881；PE分别为0.593、0.689和0.585。结论：D18S53、D18S58和D18S488 3个STR基因座是18号染色体良好的遗传标记，对ES的产前基因诊断有指导意义。

关键词: 串联重复序列, 18-三体综合征, 多态现象, 遗传, 胎儿, 天津

Abstract: Abstract Objective: To investigate the genetic polymorphisms of 3 short tandem repeat (STR) loci D18S53, D18S58 and D18S488 on chromosome 18 in fetus of Tianjin Han population. The aim of the study was to discuss the evaluation criterion of quantitative fluorescence polymerase chain reaction (QF-PCR) and to provide basic data for the use of 3 STR loci in gene diagnosis and prenatal gene diagnosis of Edward syndrome (ES). Methods: Samples of villus and 374 amniotic fluid from gravida 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: 15, 13 and 15 alleles of D18S53, D18S58 and D18S488 were observed respectively. The frequencies of the genotypes were in good agreement with Hardy-Weinberg equilibrium. The Ho of 3 STR loci were 0.797, 0.847 and 0.792. The PIC were 0.81, 0.75 and 0.73. The DP were 0.944, 0.901 and 0.881. The PE were 0.593, 0.689 and 0.585. Conclusion: It was the favorable genetic markers of chromosome 18 that D18S53, D18S58 and D18S488 STR loci were, so they can be used in prenatal gene diagnosis of ES.

Key words: tandem repeat sequences, Edward syndrome, polymorphism, genetic, fetus, TIANJIN