D6S1043基因座检出三带型等位基因2例及遗传分析

摘要

Aim:To report a three-banded allele pattern of the STR locus D6S1043 in a paternity identification. Methods:DNA was extracted from different tissue samples of the individual. STR genotype of 2716 cases (6246 individuals) were determined and analyzed by multiplex fluorescent PCR amplication and capillary electrophoresis. Results:Two cases were confirmed to have three-banded allele locating in D6S1043 locus in a father-child case. PowerPlex®21 multiplex fluorescent PCR amplication system detected 21 STR loci including D6S1043 locus.Father's alleles in D6S1043 locus were17/18/21.Child’s alleles in D6S1043 locus were10/17/18, the height and area ratio in D6S1043 locus both were about 1:1:1. The result of three-banded allele of D6S1043 locus was the same as SinofilerTM kit. Conclusions:In this case father's 17 and 18 alleles passed on to his son leading to the three-banded allele pattern. The three-banded allele pattern of the STR locus D6S1043 is rare. To ensure the reliability of analysis results, different methods should be adopted for validation.%目的：在亲子鉴定案件中检出D6S1043基因座三带型。方法：提取个体不同组织DNA样本，经复合荧光PCR 扩增和毛细管电泳分析2716个案例（共6246名个体）的STR分型。结果：在1个父子单亲鉴定案例中，2名个体的D6S1043基因座上出现三带型等位基因。用 PowerPlex®21荧光标记复合扩增试剂盒对包含D6S1043在内的21个STR 基因座进行检测，父亲D6S1043基因座分型为17/18/21，儿子分型为10/17/18，电泳峰高和峰面积之比均为1∶1∶1，用SinofilerTM试剂盒复核检测结果相同。结论：在本文发现的案例中，父亲的等位基因17和18均遗传给了儿子，导致儿子表现为三带型等位基因。D6S1043三带型非常罕见，在分析时应采用不同方法或者试剂盒进行验证，保证鉴定结果的可靠性。