CAJ | 학술논문

[目的]建立浙江地区汉族人群18个STR基因座(D8S1179、D21S11、D7S820、CSFIPO、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.
[목적]건립절강지구한족인군18개STR기인좌(D8S1179、D21S11、D7S820、CSFIPO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA、PentaE、PentaD、SE33)적유전다태성수거자료,병탐토18-STR감정분석계통재친자감정、산전진단등영역적응용.[방법]대절강한족598례무혈연관계개체,채용2조형광표기STR-PCR복합확증계통급모세관전영기인분형기술,획취18개STR기인좌수거자료:재497개친자감정안례중,비교18-STR여15-STR감정계통재친자감정화산전진단중적응용.[결과] 18개STR기인좌기인형빈솔분포균부합Hardy-Weinberg평형(P>0.05).18개STR기인좌적잡합도재0.630～0.942지간,루적개체식별력대우0.9999999999.기인형분포여중국기타지구한족인군존재차이.여15-STR감정계통상비,18-STR감정계통경유리우이련체친연관계적인정급가의돌변적판단.재태인친자감정중우연발현적1례21삼체태인재D21S11、PentaD량개STR기인좌출현료특정성봉형.[결론]18개STR기인좌재절강한족인군중정고도다태성,대법의학친자관계적인정혹배제구유교대개치.부분STR기인좌적검측야유조우비정배염색체적산전진단.
[Objective] To construct a database for the genetic polymorphism of 18 STR loci (D8S1179, D21S11, D7S820, CSFIPO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, PentaE, PentaD, SE33) in Hart 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 (X~2 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.