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目的观察河北汉族人群中Y染色体STR基因座的异常分型。方法应用Amp Fl STR Y-filerTM荧光标记复合扩增系统,对1 433名河北汉族无关男性个体血样16个Y-STR基因座进行复合扩增,用ABI 3130XL遗传分析仪对扩增产物进行检测分析。结果在所有样本中共发现7例异常分型现象,共涉及两个基因座:1DYS389基因座发现分型异常3例,其中1例在DYS389Ⅰ和DYS389Ⅱ基因座上同时出现2个等位基因(12/13、29/30),其余2例均为在DYS389Ⅱ基因座上出现2个等位基因(28/29、29/31);2DYS385基因座共发现4例分型异常,其中出现4个等位基因共3例(2例13/14/17/18、1例11/13/19/20),3个等位基因1例(13/14/16)。结论在案件分析中应注意这种特殊分型现象的出现,为案件的分析提供依据。
Objective To observe the abnormal typing of Y chromosome STR loci in Hebei Han population. Methods A total of 1643 Y-STR loci from unrelated males of Hebei Han population were amplified by Amp Fl STR Y-filerTM fluorescence multiplex amplification system. The amplified products were detected by ABI 3130XL genetic analyzer . Results A total of 7 cases of abnormal typing were found in all the samples, involving two loci: 3 cases were found abnormal in 1DYS389 locus, 1 case had two alleles at the same time in DYS389Ⅰ and DYS389Ⅱ loci (12 / 13, 29/30). The remaining 2 cases all showed two alleles (28/29, 29/31) in DYS389Ⅱ locus. Four cases were found in 2DYS385 locus, including 4 alleles There were 3 genes (2 cases, 13/14/17/18, 1 case, 11/13/19/20) and 1 allele (13/14/16). Conclusion In the case analysis, attention should be paid to the occurrence of this special classification phenomenon, which provides the basis for the analysis of the case.