12个X染色体短串联重复序列基因座在河北汉族人群的遗传多态性

Study of genetic polymorphisms of 12 short tandem repeats on X chromosome in ethnic Han population from Hebei Province

目的调查12个X染色体短串联重复序列（X chromosome short tandem repeat，X-STR）基因座在中国河北汉族人群中的遗传多态性。方法应用荧光标记复合扩增和毛细管电泳分型技术，对198名河北汉族无关个体（男性96名，女性102名）进行InvestigatorArgusX-12试剂盒中12个X-STR基因座分型，计算群体遗传学参数。结果该群体12个X-STR基因座中DXS10101与DXS10103呈连锁不平衡状态。12个X-STR基因座共检出148个等位基因，其中包括22个分型标准物外（off-ladder，OL）等位基因。12个X-STR基因座在河北汉族人群的杂合度为0．5074～0．9143，多态性信息含量为0．4377～0．9079，男性个体识别力为0．5074～0．9143，女性个体识别力为0．6876～0．9863，三联体非父排除率为0．4377～0．9079，二联体非父排除率为0．2984～0．8373。结论Investigator Argus X-12系统在河北汉族人群中具有高度多态性，适用于法医学个人识别和亲子鉴定，尤其是特殊或复杂的亲子鉴定。

Objective To investigate genetic polymorphisms of 12 X chromosome short tandem repeat （X-STR） loci in ethnic Hebei Han population using an Investigator Argus X-12 amplification kit. Methods DNA was extracted for 198 unrelated individuals （96 males and 102 females） and amplified with a fluorescence labeled multiplex PCR system. PCR products were separated and genotyped with capillary array electrophoresis. Results Only DXS10103 and DXS10101 showed significant linkage disequilibrium at the 12 X-STR loci. One hundred and forty-eight alleles, including 22 off-ladder （OL） alleles, were observed at the 12 X-STR loci in the population. The heterozygosity and polymorphic information content （PIC） were 0. 5074-0. 9143 and 0. 4377-0. 9079, respectively. The power of discrimination （PD） was 0. 5074-0. 9143 in males and 0. 6876-0. 9863 in females. The mean exclusion chance was 0. 4377-0. 9079 in the trios cases and 0. 2984-0. 8373 in the duo cases, respectively. Conclusion The Investigator Argus X-12 amplification system is highly polymorphic in ethnic Han population from Hebei and is useful for personal identification and paternity testing.