天津汉族胎儿D18S53、D18S59和D18S4883个STR基因座遗传多态性研究  

Genetic Polymorphisms of STR Loci D18S53, D18S59 and D18S488 in Fetus in Tianjin

作　　者：李晓洲[1] 刘静[1] 史云芳[1] 琚端[1] 李岩[1] 张颖[1] 岳天孚[1] 

机构地区：[1]天津医科大学总医院妇产科,300052

出　　处：《天津医药》2014年第2期105-108,共4页Tianjin Medical Journal

基　　金：天津市重点支撑项目(项目编号:11ZCGYSY02500)

摘　　要：目的利用定量荧光PCR(QF-PCR)技术研究天津汉族胎儿18号染色体上D18S53、D18S59和D18S488 3个短串联重复序列(STR)基因座遗传多态性,为18-三体综合征(ES)的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,利用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、D18S59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;DP分别为0.944、0.901和0.881;PE分别为0.593、0.689和0.585。结论 D18S53、D18S59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。Objective To investigate the genetic polymorphisms of 3 short tandem repeat （STR） loci D18S53, D18S59 and D18S488 on chromosome 18 in fetus of Tianjin Han population, and to provide basic data in the use of 3 STR lo-ci in the prenatal diagnosis of Edward syndrome （ES）. Methods A total of 64 villus samples and 374 amniotic fluid sam-ples were collected from gravida in Tianjin Han population. QF-PCR and ABI PRISM 377 sequence were used in this study. The frequencies of the genotypes were tested with H-W 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 informa-tion content （PIC）, the probability of discrimination power （DP）, and the probability of exclusion （PE）. Results The 15, 13 and 15 alleles of D18S53, D18S59 and D18S488 were observed respectively. The frequencies of the genotypes were in good agreement with H-W equilibrium. The Ho of 3 STR loci were 0.797, 0.847 and 0.792. The PIC was 0.81, 0.75 and 0.73. The DP was 0.944, 0.901 and 0.881. The PE was 0.593, 0.689 and 0.585. Conclusion D18S53, D18S59 and D18S488 STR lo-ci were the favorable genetic markers of chromosome 18, which can be used in prenatal genetic diagnosis of ES.

关 键 词：串联重复序列 多态现象 遗传 胎儿 18-三体综合征 天津 D18S53 D18S59 D18S488 D18S53 D18S59 D18S488 

分 类 号：R394.3[医药卫生—医学遗传学]