Abstract

The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors almost 50 ethnic groups including the Uyghur (UGR: 45.84%), Han (HAN: 40.48%), Kazakh (KZK: 6.50%), Hui (HUI: 4.51%), Kyrgyz (KGZ: 0.86%), Mongol (MGL: 0.81%), Manchu (MCH: 0.11%), and Uzbek (UZK: 0.066%), which make it one of the most colorful regions with abundant cultural and genetic diversities. In our previous study, we established allelic frequency databases for 14 autosomal short tandem repeats (STRs) for four minority populations from XUARC (MCH, KGZ, MGL, and UZK) using the AmpFlSTR® Identifiler PCR Amplification Kit. In this study, we genotyped 2,121 samples using the GoldenEye™ 20A Kit (Beijing PeopleSpot Inc., Beijing, China) amplifying 19 autosomal STR loci for four major ethnic groups (UGR, HAN, KZK, and HUI). These groups make up 97.33% of the total XUARC population. The total number of alleles for all the 19 STRs in these populations ranged from 232 (HAN) to 224 (KZK). We did not observe any departures from the Hardy–Weinberg equilibrium (HWE) in these populations after sequential Bonferroni correction. We did find minimal departure from linkage equilibrium (LE) for a small number of pairwise combinations of loci. The match probabilities for the different populations ranged from 1 in 1.66 × 1023 (HAN) to 6.05 × 1024 (HUI), the combined power of exclusion ranged from 0.999 999 988 (HUI) to 0.999 999 993 (UGR), and the combined power of discrimination ranged from 0.999 999 999 999 999 999 999 983 (HAN) to 0.999 999 999 999 999 999 999 997 (UGR). Genetic distances, principal component analysis (PCA), STRUCTURE analysis, and the phylogenetic tree showed that genetic affinity among studied populations is consistent with linguistic, ethnic, and geographical classifications.

Highlights

  • IntroductionThe region was used as a corridor by European and Asian populations

  • The Altai is a mountain range in Central and East Asia and stretches around Kazakhstan and Russia in the west while Xinjiang in the northwest China and Mongolia in the East

  • This study focused on four main ethnic groups UGR, KZK, HUI, and HAN from Xinjiang to genotype 19 autosomal short tandem repeats (STRs) using the Goldeneye 20A kit

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Summary

Introduction

The region was used as a corridor by European and Asian populations This corridor played an important role in the formation of new ethnic groups and diversity of populations today (Ovodov et al, 2011). XUAR has played a vital role in the early ages because it was connecting the Altai mountain range corridor and western Eurasia and eastern Eurasia (Esposito, 1999). It was the main hub for the famous Silk Road, which linked trade between the Middle East, East Asia, Central Asia, South Asia, and Europe (Esposito, 1999). Many ethnic groups, including the Uyghur (UGR), Kazakh (KZK), Hui (HUI), Han (HAN), Manchu (MCH), Mongols (MGL), Kirgiz (KGZ), and Uzbek (UZK) have lived there for hundreds of years (Millward, 2007)

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