Abstract
X-chromosome short tandem repeat markers (X-STRs), due to their special inheritance models, physical location on a single chromosome and the absence of recombination in male meiosis, play an important role in forensic and population genetics. While a series of genetic analyses focusing on the genetic diversity and forensic characteristics of X-STRs are well studied for ethnically/linguistically diverse and demographically large Chinese populations, genetic evidence from Gelao ethnicity is still sparse. Here, we genotyped the first batch of 19 X-STRs in 513 Chinese Gelao individuals (265 females and 248 males), and reported genetic polymorphisms, forensic characteristics based on the single locus and seven linkage groups. DXS10135 with the highest PIC (0.9106) and LG1 (DXS10148-DXS10135-DXS8378) with the largest HD (0.9970) are polymorphic and informative. The CPDs in Gelao males and females are respectively larger than 0.999999999997095 and 0.99999999999999999999918, and the combined MECs are larger than 0.999999975715109. Subsequently, we investigated the population relationships among 14 Chinese populations based on 19 X-STRs and among 23 populations based on 11 overlapped X-STRs. Our results revealed genetic differentiations among Tibeto-Burman, Altaic and other Chinese homogenous populations, and demonstrated that Guizhou Gelao has the genetically closer relationships with Han Chinese and geographically close Guizhou Miao.
Highlights
Short tandem repeat (STR), one kind of mutation-prone genetic marker and often referred to as microsatellite and simple sequence repeat (SSR), is widely distributed in the human genome[1,2,3]
We sought out to address the following questions: (1) what about the genetic diversity of 19 X-chromosome short tandem repeat markers (X-STRs) and seven linkage groups in Gelao ethnicity? (2) what are the locations of Chinese Gelao ethnicity in a nationwide genetic variation context? (3) what are the linguistic, geographic and social affiliations based on X-chromosomal genetic markers? (4) what are the features of Chinese population genetic substructures and the genetic distances between Gelao nationality and other reference populations?
Linked X-STR markers play an important role in forensic complex kinship cases or deficiency case identifications
Summary
Short tandem repeat (STR), one kind of mutation-prone genetic marker and often referred to as microsatellite and simple sequence repeat (SSR), is widely distributed in the human genome (approximately 1.6 million and spanning nearly 1% of the human genome)[1,2,3]. Y-chromosomal STRs with the features of high mutation and male especial inheritance play an important role in the population genetics, genealogy researches, evolutionary and forensic studies[8,9]. To get higher discriminatory power, a new commercial AGCU X19 X-STRs amplification kit (AGCU ScienTech Inc., Wuxi, Jiangsu, China) has been developed[25] and emerged to characterize the genetic polymorphisms and forensic characteristics, as well as reconstruct X-chromosomal genetic marker haplotype reference database in Chinese nationalities[26,27,28,29,30,31]. Genetic variations, haplotype diversity of X-chromosomal genetic markers in Chinese Gelao, as well as genetic relationships with geographically/ethnolinguistically related populations have not yet been addressed.
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