Genetic Polymorphisms Of Y-Chromosome O1 Haplogroup In Six Ethnic Groups Of Guangxi,Southwest Of China

Objective:Y chromosome has its genetic characters.The non-recombining region is from father to sons.The effective population size of Y chromosome is only 1/4 of autosome.Y chromosomal SNP has low mutation rate,and it as a powerful tool of reconstruction human population history.Y-STR has a high mutation rate,and it can keep track of pedigree.So,Y-SNP and Y-STR can easily focus on criminal suspect through pedigree assay from populations.These two genetic markers can use to estimate the migration time,and use to search criminal suspects in forensic practice.Methods:Samples were collected from Guangxi in China,including 399 unrelated male individuals from six ethic groups.We performed a core genotyping of 12-plex SNPs and a sub-haplogroup assay of 01 on 24-plex SNPs.Nuclear genome DNA was extracted by phenol-chloroform method.The core 12 Y-SNP loci were C-M130,D-M174,F-M89,G-M201,J-M304,K-M9,N-M231,0-M 175,Q-M242,R-M207,01-F265,02-CTS 10736),The 24 Y-SNP loci of sub-haplogroup 01 were 01a-M119,01a1a-M307.1,01a1b-CTS5726,01a1a1a-F140,O1a1a1b-SK1568/Z23420,O1a1a1a1-F78,O1a1a1b1-MI01,O1a2a-F3288,O1a2a1-Z38606,O1b-M268,O1b1-F 2320,01b1a-M1470,01b1a1-PK4,O1b1a1a-M95,O1b1a2-Page59,O1blalb-F838,01 b1a1a1-F1803/M1348,O1b1a1b1-FI199,O1b2a-F1204,O1b2a1-CTS713,O1b2a3-CT S10687,O1b2b-CTS562,O1b1a2b-F417,O1b2a-F1942);26 Y-STR were typed using multiplex PCR of Y26 kit,application R v.3.2.3.Data analysis were executed by XLSTAR software and network 5.0.0.0 software.Results:The haplogroups frequencies of Guangxi populations are listed in Table S2.The frequencies of core haplogroups F-M89,K-M9,and 0-M175 are high in samples.Haplogroups C and D were less frequent in the region,but both were found in our population and most frcquent in GXY(60.3%)population.The old haplogroup F*-M89 was observed only in one sample of GXJ populations.The frequency of haplogroup O2-CTS10736 is GXH(48%),GXD(45.3%)and GXM(50%).This haplogroup has the highest frequencies in Sino-Tibetan and Hmong-Mien populations,while it was found in Tai-Kadai populations,with no clear ethnic association but geographic restriction.For O1-F265 haplogroup,distribution of haplogroup O1a-M119 is much more fragmented geographically but is largely restricted to GXH(24%)and GXD(22.6%),while nearly absent in other ethnic groups.O1b1a1a-M95(including O1b1a1-PK4 and Olblalal-F1803/M1348)is the most frequent haplogroup in GXJ(62.8%),GXM(46.5%)and GXZ(55.9%).C-M130,O1a-M119 and O1b1a1a-M95 are abundant and shared in different ethnic groups,they may represent a unique genetic tool for studying population source in the area of Guangxi ethnic population.Network analyses of Major haplogroupsY-STR were analyzed on samples of C-M130,O2-CTS10736,O1a and O1b haplogroups.In Fig.S3 ethnic group haplotypes(especially GXY)were found further away from the origin,indicating that the expansion of this haplogroup might have happened long time after its emergence.In Ola haplogroups STR network,A clear hierarchical structure(annual ring shape)emerged in the network of O1a-M119,in which GXH,GXD and GXJ lay at the center of the network(immediately next to the origin),GXM and GXY haplotypes were distributed at the periphery.The recent gene flow amongst the populations might have carried the O1a1a1a-F140 into GXM and GXZ populations.O1blala-M95 is a major sub-haplogroup of O2-F265.More than half of the haplotypes can be found in six group populations,indicating the expansion of this haplogroup happened in the Guangxi populations.But we never observe novel haplotypes in the periphery of the network.The O1blala-M95 frequency is quite low in GXH.GXD populations,and these individuals appeared sporadically in the network,sharing haplotypes with GXM,GXZ and GXJ.In 02-CTS10736,most of the big size haplotypes are shared by various ethnic groups,and no hierarchical expansion structure like that of O1 a-M 119 can be observed.Conclusions:We set up a single-tube multiplex assay of 24-plex Y-Chromosomes haplogroups to observe human migration and differentiations.This multiplex assay is a convenient and cost-effective tool to assist in criminal investigations.