Polymorphisms and microvariant sequences in the Japanese population for 25 Y-STR markers and their relationships to Y-chromosome haplogroups
Polymorphisms and microvariant sequences in the Japanese population for 25 Y-STR markers and their relationships to Y-chromosome haplogroups
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DOI：
10.1016/j.fsigen.2019.03.004
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发表时间：
2019-07-01
影响因子：
3.1
通讯作者：
Mizuno, Natsuko
中科院分区：
文献类型：
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作者：
Watahiki, Haruhiko;Fujii, Koji;Mizuno, Natsuko
Y染色体短串联重复序列（Y-STR）标记已被用于法医学目的，如男性血统的亲缘关系分析和检测男性和女性DNA混合物中的男性DNA组分。最近，据报道，快速突变的Y-STR（RM Y-STR）标记有望帮助区分近亲。本研究提供了25个Y-STR标记的Y染色体单倍型数据，其中包括6个RM Y-STR标记（DYS 576，DYS 627，DYS 518，DYS 570，DYS 449和DYF 387 S1），使用Yfiler（TM）Plus试剂盒在1299名日本男性中进行分型。识别能力从YfilerTM试剂盒对16个Y-STR标记的87.2%提高到YfilerTM Plus试剂盒对25个Y-STR标记的99.6%。我们通过桑格测序鉴定了8个Y-STR标记的微变异等位基因和DYS 390的低扩增等位基因的序列。DYF 387 S1是一个位于人类Y染色体上两个位置的多位点Y-STR标记，在1299个样本中的51个（3.9%）中观察到三等位基因模式，我们发现DYF 387 S1的三等位基因模式在单倍群C-M131中的频率极高。我们还分析了每个单倍型组中的Y-STR基因多样性及其与突变率的相关性。
Y-chromosomal short tandem repeat (Y-STR) markers have been used for forensic purposes such as kinship analysis of male-linage and detection of a male DNA component in a mixture of male and female DNA. Recently, rapidly mutating Y-STR (RM Y-STR) markers were reported that are expected to help distinguish close male relatives. This study provides data of Y-chromosomal haplotypes for 25 Y-STR markers, including six RM Y-STR markers (DYS576, DYS627, DYS518, DYS570, DYS449 and DYF387S1) typed with the Yfiler (TM) Plus kit in 1299 males of the Japanese population. Discrimination capacity increased from 87.2% for 16 Y-STR markers with the Yfiler (TM) kit to 99.6% for 25 Y-STR markers with the Yfiler (TM) Plus kit. We characterized sequences of observed microvariant alleles of eight Y-STR markers and a low-amplified allele of DYS390 by Sanger sequencing. DYF387S1, a multi-locus Y-STR marker that is located at two positions on the human Y-chromosome, was observed in tri-allelic patterns in 51 of 1299 samples (3.9%) and we found an extremely high frequency of the tri-allelic pattern of DYF387S1 in haplogroup C-M131. We also analyzed Y-STR gene diversity in each haplogroup and its relevance to mutation rates.