浙江省汉族人群18-STR基因座的分型资料及其应用  

Establishment and Application of 18-STR Database in Han Population from Zhejiang Province

作　　者：陈雁[1,2] 朱宇宁[1,2] 吕时铭[1,2] 尤建飞[1,2] 马裕[1,2] 

机构地区：[1]浙江大学医学院附属妇产科医院检验科 [2]浙江大学司法鉴定中心亲子鉴定实验室,浙江杭州310006

出　　处：《中山大学学报（医学科学版）》2010年第1期122-128,共7页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：浙江省卫生厅科研项目(2007B130)

摘　　要：【目的】建立浙江地区汉族人群18个STR基因座(D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA、PentaE、PentaD、SE33)的遗传多态性数据资料,并探讨18-STR鉴定分析系统在亲子鉴定、产前诊断等领域的应用。【方法】对浙江汉族598例无血缘关系个体,采用2组荧光标记STR-PCR复合扩增系统及毛细管电泳基因分型技术,获取18个STR基因座数据资料;在497个亲子鉴定案例中,比较18-STR与15-STR鉴定系统在亲子鉴定和产前诊断中的应用。【结果】18个STR基因座基因型频率分布均符合Hardy-Weinberg平衡(P>0.05)。18个STR基因座的杂合度在0.630～0.942之间,累积个体识别力大于0.9999999999,基因型分布与中国其它地区汉族人群存在差异。与15-STR鉴定系统相比,18-STR鉴定系统更有利于二联体亲缘关系的认定及可疑突变的判断。在胎儿亲子鉴定中偶然发现的1例21三体胎儿在D21S11、PentaD两个STR基因座出现了特征性峰型。【结论】18个STR基因座在浙江汉族人群中呈高度多态性,对法医学亲子关系的认定或排除具有较大价值,部分STR基因座的检测也有助于非整倍染色体的产前诊断。【Objective】 To construct a database for the genetic polymorphism of 18 STR loci （D8S1179,D21S11,D7S820,CSF1PO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,VWA,TPOX,D18S51,D5S818,FGA,PentaE,PentaD,SE33） in Han population from Zhejiang province.To investigate the application of 18 STR loci in the field of paternity testing and prenatal diagnosis.【Methods】 Fluorescent dye labeling multiplex STR-PCR,capillary electrophoresis and DNA sequencer GeneScan were adopted in genotyping 598 unrelated samples collected from Han population in Zhejiang province.18-STR database was established and analyzed.Population comparison was conducted between Han population in Zhejiang province and 8 other population.15-STR and 18-STR identification system were compared in 497 paternity testing cases.【Results】 We observed the distribution of 18 STR loci in Han population meet Hardy-Weinberge equilibrium and was different from other 8 population （χ2 test,P 0.05）.Statistical results showed that the heterozygosis （He） ranged from 0.630 to 0.942.The combined power of discrimination was 0.9999999999.Compared with 15-STR identification system,higher paternity index scores and higher exclusion rate were obtained with 18-STR identification system in dual-case paternity test and mutation identification.One trisomy 21 fetus was found in a prenatal paternity test case which had two characteristic genotypes in 2 STR loci of D21S11 and Penta D.【Conclusions】 The 18 loci were relatively highly genetic polymorphic in Zhejiang Han population and could be used for paternity testing.Some STR loci could be used in prenatal diagnosis for aneuploidy.

关 键 词：浙江 汉族人群 短串联重复序列(STR) 遗传多态性 亲子鉴定 产前诊断 

分 类 号：R89[医药卫生—法医学]