天津市汉族胎儿D21S1411和D21S1413 STR基因座遗传多态性的研究

目的:调查天津市汉族胎儿21号染色体上D21S1411和D21S1413短串联重复序列(STR)的遗传多态性,获取群体遗传学数据,为其应用于产前诊断提供依据。方法:选取211例产前诊断样本,提取DNA,复合扩增D21S1411和D21S1413 STR基因座,非变性聚丙烯酰胺凝胶电泳,分析扩增产物。用PowerState V12软件分析群体遗传学指标。结果:D21S1411 STR基因座共发现9种等位基因,45种基因型。D21S1413 STR基因座共发现7种等位基因,28种基因型。D21S1411基因座的观察杂合度(Ho)、多态信息含量(PIC)、个体识别率(DP)和非父排除率(PE)分别为75.4%、0.85%、0.967%、0.516%。D21S1413基因座的Ho、PIC、DP、PE分别为87.2%、0.82%、0.947%、0.739%。D21S1411和D21S1413 2个STR基因座累计PIC为0.973,累计DP为0.998,累计PE为0.874。结论:D21S1411和D21S1413 STR基因座均符合Hardy-W e inberg平衡定律,在天津市汉族胎儿群体中具有较高的杂合度和多态信息含量,可用于唐氏综合征的基因诊断和产前基因诊断。

Genetic polymorphisms of short tandem repeat D21S1411 and D21S1413 loci in the fetuses of Tianjin

Objective： To investigate the genetic polymorphism distribution of D21S1411 and D21S1413 located on chromosome 21 in the fetuses of Tianjin and provided a preliminary database for prenatal diagnosis.Methods： A total of 211 samples with prenatal diagnosis from unrelated fetuses were collected.Multiplex polymerase chain reaction involving D21S1411 and D21S1413 loci was conducted.Non-degeneration polyacrlamide gel electrophoresis was performed to detect the amplification products.Data of population genetics was obtained by using PowerStatsV12 software.Result： Nine alleles and 45 genotypes of D21S1411 loci and 7 alleles and 28 genotypes of D21S1413 loci were observed.The values of Ho,PIC,DP,PE of D21S1411 were 0.75,0.85,0.967 and 0.516,respectively.The values of Ho,PIC,DP,PE of D21S1413 were 0.87,0.82,0.947,0.739,respectively.The cumulative PIC,DP,PE of D21S1411 and D21S1413 loci were 0.973,0.998,0.874,respectively.Conclusion： The frequencies of the genotypes of D21S1411 and D21S1413 short tandem repeat（STR） were in accord with Hardy-Weinberg equilibrium.The Ho and PIC of D21S1411 and D21D1413 loci were high.Both of the loci could be used in diagnosis and prenatal diagnosis of Down syndrome.