韩国人群中16个Y染色体短串联重复序列（STR）基因座的遗传多态性。
Genetic polymorphisms of 16 Y chromosomal STR loci in Korean population.
作者信息
Kim Soon Hee, Kim Nam Ye, Hong Seung Beom, Cho Nam Soo, Kim Jong Jin, Han Myun Soo, Kim Won
机构信息
DNA Analysis Division, National Institute of Scientific Investigation, Seoul, Republic of Korea.
出版信息
Forensic Sci Int Genet. 2008 Mar;2(2):e9-10. doi: 10.1016/j.fsigen.2007.11.001. Epub 2007 Dec 21.
Allele frequencies and haplotypes of 16 Y chromosomal STR loci included in the AmpFlSTR((R)) Yfilertrade mark system were obtained from a sample of 526 unrelated Korean male individuals. A total of 478 haplotypes were observed in the 526 individuals studied, of which 440 were unique. The overall haplotype diversity for the 16 Y-STR loci was 0.9996, and the discrimination capacity was 0.9087. We found 13 atypical alleles, including null, duplicated and microvariant alleles. Microvariants have been characterized by sequencing, 14.1 allele at DYS458 showing the flanking site mutation, 13.1 and 15.2 allele at DYS385a/b showing changes in the repeat structure.
从526名无关的韩国男性个体样本中获得了AmpFlSTR((R)) Yfiler商标系统中包含的16个Y染色体STR基因座的等位基因频率和单倍型。在研究的526名个体中总共观察到478种单倍型，其中440种是独特的。16个Y-STR基因座的总体单倍型多样性为0.9996，鉴别能力为0.9087。我们发现了13个非典型等位基因，包括无效、重复和微变异等位基因。通过测序对微变异进行了表征，DYS458处的14.1等位基因显示侧翼位点突变，DYS385a/b处的13.1和15.2等位基因显示重复结构变化。
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