CAJ | 학술논문

目的建立X染色体短串联重复序列DXS7133、GATA198A10、DXS9896、DXS6797基因座的复合扩增系统,调查成都汉族人群的遗传多态性并探讨其法医学应用价值. 方法应用PCR和非变性聚丙烯酰胺凝胶电泳分型技术,并检验各基因座女性基因型频率分布是否符合Hardy-Weinberg平衡,计算法医学常用各种概率.结果 DXS7133、GATA198A10、DXS9896、DXS6797基因座在成都地区汉族群体中(男100,女120)分别发现6、6、11、8个等位基因,女性个人识别几率分别达0.7962、0.8021、0.9675 和 0.9444.χ2检验表明各基因座女性的基因型频率分布符合Hardy-Weinberg平衡.32个亲子鉴定案例调查表明这4个基因座符合X染色体伴性遗传方式,未发现突变.结论 DXS7133、GATA198A10、DXS9896、DXS6797基因座在成都汉族群体中具有较高的遗传多态性,适用于个人识别和女孩的亲权鉴定.
목적건립X염색체단천련중복서렬DXS7133、GATA198A10、DXS9896、DXS6797기인좌적복합확증계통,조사성도한족인군적유전다태성병탐토기법의학응용개치. 방법응용PCR화비변성취병희선알응효전영분형기술,병검험각기인좌녀성기인형빈솔분포시부부합Hardy-Weinberg평형,계산법의학상용각충개솔.결과 DXS7133、GATA198A10、DXS9896、DXS6797기인좌재성도지구한족군체중(남100,녀120)분별발현6、6、11、8개등위기인,녀성개인식별궤솔분별체0.7962、0.8021、0.9675 화 0.9444.χ2검험표명각기인좌녀성적기인형빈솔분포부합Hardy-Weinberg평형.32개친자감정안례조사표명저4개기인좌부합X염색체반성유전방식,미발현돌변.결론 DXS7133、GATA198A10、DXS9896、DXS6797기인좌재성도한족군체중구유교고적유전다태성,괄용우개인식별화녀해적친권감정.
Objective To add DXS7133, GATA198A10, DXS9896 and DXS6797 to the panel of forensically validated X chromosome markers, and apply the multiplex amplification system to a population study and forensic analysis on the Hans of Chengdu. Methods The PCR products were detected by the polyacrylamide gel electrophoresis and silver staining method. Hardy-Weinberg equilibrium of females was tested and every forensically interested value was calculated. Results Sequencing revealed that their common sequence motifs were tetranucleotide repeats. Population genetic data were obtained by analyzing 120 unrelated females and 100 males from Chengdu Han ethnic group. In this population, DXS7133, GATA198A10, DXS9896 and DXS6797 exhibited 6, 6, 11, 8 distinguishable alleles respectively. Chi-square test demonstrated that genotype frequencies in females did not depart from Hardy-Weinberg equilibrium. Power of discrimination for female samples for the four loci were 0.7962, 0.8021, 0.9675, and 0.9444. The parentage testing in 32 cases revealed a typical X-linked inheritance and no mutations. Conclusion DXS7133, GATA198A10, DXS9896 and DXS6797, which are highly polymorphic in Chengdu Han population, are appropriate for individual identification and paternity testing involving a female child.