Y Chromosome Genetic Polymorphism Of Miao,Gelao And Bouyei Residing In Guizhou And Application Value Of Ancestry Inference

Objective:（1）To obtain the fine patrilineal genetic structures of Miao,Gelao,Bouyei populations residing in Guizhou province,and enrich the basic data of Y chromosome genetic markers in Chinese population.（2）To analyze the relationship between Y-SNP and Y-STR,and explore the feasibility of inferring the Y-SNP haplogroup from Y-STR haplotype.（3）To probe the origin and evolution history of the target populations through the population comparison with other populations,and provide a basis for the research and application of Y chromosome genetic markers in the fine origin inference of forensic medicine.Methods:（1）A total of 100 healthy unrelated males were collected from each of Miao,Gelao,and Bouyei ethnic groups;Genomic DNA was extracted using the QIAamp^?DNA Blood Mini Kit.（2）The detailed Y-SNP haplogroups were obtained using the 183 Y-SNPs detection system designed by our laboratory;41 Y-STRs amplified using the Goldeneye ^TMidentification system Y Plus were detected and separated by the capillary electrophoresis.（3）Allele frequencies,haplotype frequencies,haplogroup frequencies,and corresponding forensic parameters of Y-SNP and Y-STR were calculated.（4）The association characteristics of allele variation between Y-SNP and Y-STR were analyzed by direct calculation.（5）Potential ancestral information and biogeographic ancestral origin and migration characteristics were utilized by Network 10.1.0.0,“AMOVA&MDS”,Omicshare,Mega 7.0,and SPSS 25.0.Results:（1）A total of 50 different Y-SNP haplogroups were obtained,among which haplogroup CT,C,K2,O,and Q were detected.Haplogroup O was the primary haplogroup in the Guizho Miao,Gelao and Bouyei populations.C-M130 and O1-M1354 were the dominant haplogroups shared by the studied populations,CT haplogroup appeared at a high frequency in the Bouyei population.In the studied populations,O2 was observed at a higher frequency than O1.In the O2 sub-haplogroup,O2a2c was the most frequent in the Miao and Bouyei populations,while O2a1c and O2a2b were the most in the Gelao population.O2a2a1a2a1a2-N5 and O2a2a1a2a1-CTS6489 were the dominant terminal haplogroups in the Miao and Bouyei populations,O1a1a-M307.1 was the dominant terminal haplogroup in the Miao and Gelao populations.O2a1c1a1a1a1e1-Y15976 was only distributed in the Gelao population,and O2a2b1a1a6b1-SK1730 was only distributed in the Bouyei population.（2）A total of 100,98,and 92 haplotypes were observed in the Miao,Gelao,and Bouyei populations,respectively.DYS449*33,DYS481*22,DYS570*20,DYS627*21,DYS635*23,DYS385a/b*（13,21;13,22）,and DYS527a/b*（20,23）had high frequency in the Miao population.DYS449*30,DYS481*24,DYS570*18,DYS627*22,DYS635*21,DYS385a/b*（12,17）,and DYS527a/b*（21,22）had high frequency in the Gelao population.DYS449*26,DYS481*25,DYS570*17,DYS627*21,DYS635*23,DYS385a/b*（15,15）,and DYS527a/b*（21,22）had high frequency in the Bouyei population.（3）Allele distributions of DYS390,DYS448,DYS481,DYS593,DYS643,DYF387S1,DYS385a/b,and DYS527a/b were significantly different under two dominant haplogroups.A total of 25allele variations were observed,the intermediate allele“.2”in DYS518 occurred in an Q-M242 background,and the micro-variation and copy number variation referred to several haplogroups.（4）Population comparison showed the studied populations have close genetic relationship with other populations living in Guizhou province and surrounding areas,as well as the same language populations.In addition to Guizhou populations,Guizhou Miao was close to Tai-Kaidai-speaking,Shandong Han,Ningxia Hui,and Sichuan Qiang populations;Gelao was closer to Han populations and Asian-American population;Bouyei was close to Tai-Kaidai-speaking populations.Conclusion:Presently,the fine patrilineal genetic structures and genetic differences of Guizho Miao,Gelao and Bouyei populations are obtained.Miao and Bouyei populations have obvious correlation in patrilineal origin and evolution,which are quite different from the patrilineal genetic structure of the Gelao population.The high frequency distribution of Y-SNP haplotype is associated with specific Y-STR allele,which is expected to obtain population ancestor information through predicting Y-SNP haplogroup by Y-STR haplotype.Population comparison showed that the populations show significant geographical（continental）-linguistic cluster.Guizhou Miao was very likely to enter Guizhou Province from northwest China,and Gelao had gene exchange with most of the Han population.Bouyei originated in southern China and communicated with Zhuang population frequently.