本研究基于75个Y-SNP位点和23个Y-STR基因座对山东汉、回族男性人群进行研究,旨在揭示两个人群的父系遗传结构,为法医学应用及群体遗传学等提供基础数据。研究基于微测序技术检测187份山东汉族和130份山东回族样本,获取75个Y-SNP位点分型;采用PowerPlex^®Y23试剂盒检测23个Y-STR基因座;采用直接计数法统计等位基因频率、单倍型频率及单倍群频率,根据公式D=n(1-∑pi²)/(n-1)计算基因多样性、单倍型多样性以及单倍群多样性;根据Median-joining方法,使用NETWORK 5.0和NETWORK Publisher构建并展示网络图。研究结果显示,单倍群O-M175、C-M130、N-M231、Q-M242为山东汉族男性人群主要的Y单倍群,单倍群O-M175、J-M304、R-M207、C-M130、N-M231为山东回族男性人群最主要的单倍群;23个Y-STR基因座在山东汉族男性样本中检出187种单倍型,单倍型多样性为1.0000,在山东回族中检出121种单倍型,单倍型多样性为0.9988;网络图显示同一Y单倍群的样本相对独立地聚集在一起,山东汉族与回族人群之间存在共享单倍群,同时也存在一些特异性单倍群,如单倍群J-M304、R-M207均以山东回族为主,单倍群Q-M242则以山东汉族为主。山东汉族和回族男性人群的主要单倍群均为单倍群O-M175;单倍群J-M304、R-M207在山东回族中的高频分布,单倍群Q-M242则在山东汉族中高频分布。研究表明山东回族人群中保留有一定比例的欧亚西部和中东特有的Y染色体类型。

This study is based on 75 Y-SNPs and 23 Y-STRs to analyze the paternal genetic structure of Shandong Han and Hui males and provides basic data for forensic application and population genetics. Mini-sequencing was used to type 75 Y-SNPs of 187 individuals of Han and 130 individuals of Hui. The PowerPlex^®Y23 kit was used to type 23 Y-STRs of all individuals. Allele frequency, haplotype frequency and haplogroup frequency were calculated by direct counting. Gene diversity, haplotype diversity and haplogroup diversity were calculated according to the formula D=n(1-∑pi²)/(n-1). The median-joining networks were constructed using NETWORK 5.0 and NETWORK Publisher. The research results showed that haplogroup O-M175, C-M130, N-M231, Q-M242 were the major haplogroups of the Han population, and haplogroup O-M175, J-M304, R-M207, C-M130, N-M231 were the major haplogroups of Hui population. 187 haplotypes were detected in Han populations based on twenty-three Y-STR loci, and the haplotype diversity was 1.000. And 121 haplotypes were detected in Hui populations, the haplotype diversity was 0.9988. The Networks showed that the individuals of same haplogroup were relatively independently clustered. There were shared haplogroups between Han and Hui populations, as well as some population specific haplogroups. For example, haplogroups J-M304 and R-M207 were prevalent in Hui population, while haplogroup Q-M242 was prevalent in Han population. The major haplogroup of both populations was haplogroup O-M175. Haplogroups J-M304 and R-M207 were distributed at high frequencies in Shandong Hui male population, and haplogroups Q-M242 were distributed at high frequencies in the Shandong Han male population. A certain percentage of unique Y chromosome haplotypes in western Eurasia and the Middle East were retained among the Shandong Hui male population.