中国汉族男性家系Y-STR基因座容差情况调查

目的调查分析35个Y-STR基因座在中国汉族男性家系中的容差情况。方法收集9个中国汉族男性家系229名个体血样。采用YFIler PlusTM与ZGWZ FSY或Yfiler Platinum试剂盒分型,分析比较共同的35个Y-STR和其中29个中低突变Y-STR分型在各家系成员之间的容差情况。结果 9家系229名成员在家系内部两两比对,共有3464对组合。对于35个Y-STR分型,其中有3031对组合存有容差分型占87.50%;容差基因座最多为7个,容差5个及以内占99.51%,容差1~3个的最为常见占71.85%;容差步数最多为7步,容差5步及以内占98.85%,容差1~3步的最为常见占68.19%。对于其中29个中低突变Y-STR,有2396对组合存有容差分型占69.17%;容差基因座最多为5个,容差3个及以内占98.79%,容差0和1个的最为常见占71.74%;容差步数最多为6步,容差3步及以内的占98.35%,容差0和1步的最为常见占70.96%。结论在男性家系调查中,同一家系男性成员之间Y-STR分型的容差局限在一定范围,本研究结果可为今后利用Y-STR数据库在家系调查、数据分析与实战应用中提供参考数据;建议在数据库比对中优先选用中低突变基因座进行筛选,以免因高突变率造成容差过多导致侦查范围遗漏。

An analysis of Y-STR mismatch distribution between the same male lineage in Chinese Han population

Objective To investigate the mismatch distribution of 35 Y-STR loci between the same male lineage in Chinese Han population. Methods Bloodstain samples of 229 male individuals from 9 lineage in Chinese Han population were typed using Yfiler PlusTM and ZGWZ FSY or Yfiler Platinum PCR amplification Kits, which were used to analyze and compare the mismatch distribution of 35 Y-STR loci and 29 Y-STR loci of low or middle mutation contained. Results 229 male individuals from 9 lineage had 3464 groups compared with pairwise, for 35 Y-STR haplotypes, 3031 mismatched groups were found among 3464 groups, and the rates is 87.50%. The mismatched loci is up to 7 per individuals, the rates of mismatched loci within 5 was 99.51%, mismatched 1~3 loci is the most common(71.85%). The mismatched steps was up to 7, the rates of mismatched steps within 5 was 98.85%, mismatched 1~3 steps is the most common(68.19%). For 29 Y-STR haplotypes with middle or low mutation contained, 2396 groups were found among 3464 groups, and the rates is 69.17%. The mismatched loci is 5 at most, the rates of mismatched loci within 3 was 98.79%, mismatched 0 and 1 locus is the most common(71.74%). The mismatched steps is 6 at most, the rates of mismatched steps within 3 was 98.35%, mismatched 0 and 1 step is the the most common(70.96%). Conclusion The Y-STR mismatch distribution between the same lineage were limited in a certain range, The data obtained in this study will provide reference data for the future use in lineage investigation, data analysis and forensic purpose. It is suggested that we should select the middle or low mutation Y-STR loci for database searching first, so as to avoid the omission of forensic investigation range caused by too much mismatches due to using high-mutation-rates Y-STR loci.