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马来西亚半岛马来族和原住民族群杀伤细胞免疫球蛋白样受体基因的等位基因多态性。

Allelic Polymorphisms of Killer Immunoglobulin-Like Receptor Genes in Malay and Orang Asli Populations of Peninsular Malaysia.

机构信息

Human Identification/DNA Unit, School of Health Sciences, Universiti Sains Malaysia, 16150, Kubang Kerian, Kelantan, Malaysia.

Human Identification/DNA Unit, School of Health Sciences, Universiti Sains Malaysia, 16150, Kubang Kerian, Kelantan, Malaysia; Analytical Biochemistry Research Centre (ABrC), Inkubator Inovasi Universiti (I(2)U), SAINS@usm, Universiti Sains Malaysia, 11900, Bayan Lepas, Penang, Malaysia.

出版信息

Hum Immunol. 2022 Jul;83(7):564-573. doi: 10.1016/j.humimm.2022.04.005. Epub 2022 Apr 26.

DOI:10.1016/j.humimm.2022.04.005
PMID:35483989
Abstract

Next-generation DNA sequencing (NGS) technology advancements provide new insight into the level of variation in killer immunoglobulin-like receptor (KIR) genes. High resolution allele genotyping of seven KIR genes was conducted among 94 unrelated Malay and Orang Asli (OA) individuals of Peninsular Malaysia. A manual bioinformatics analysis is performed and optimised by Sanger sequencing method. The Malays expressed a total of 22 alleles, as compared to only 15 alleles in the OA population. In total, 12 centromeric and 9 telomeric allelic haplotypes were identified in the Malays, whereas 8 centromeric and 5 telomeric allelic haplotypes were identified in the OA. The KIR2DL1, KIR2DL3, and KIR2DS4 genes exhibited a high degree of variation and balanced distribution in the Malay and OA populations. On the other hand, KIR2DL4, KIR3DL1, KIR3DL2 and KIR3DL3 genes exhibited a high degree of conservation, with less number of alleles identified and the dominance of a single allele at high frequency. High-resolution KIR allele genotyping has revealed unique sequence variations and allelic haplotypes between individuals and populations. The distributions of KIR alleles and haplotypes are useful for genetic population studies and serve as a baseline for future transplantation matching and disease association research.

摘要

下一代 DNA 测序(NGS)技术的进步为杀手免疫球蛋白样受体(KIR)基因的变异水平提供了新的见解。在马来西亚半岛的 94 名无关马来人和原住民族(OA)个体中,对 7 个 KIR 基因进行了高分辨率等位基因基因分型。通过 Sanger 测序方法进行了手动生物信息学分析和优化。马来人总共表达了 22 个等位基因,而 OA 人群中只有 15 个等位基因。在马来人中总共鉴定出 12 个着丝粒和 9 个端粒等位基因单倍型,而在 OA 中鉴定出 8 个着丝粒和 5 个端粒等位基因单倍型。KIR2DL1、KIR2DL3 和 KIR2DS4 基因在马来人和 OA 人群中表现出高度的变异性和平衡分布。另一方面,KIR2DL4、KIR3DL1、KIR3DL2 和 KIR3DL3 基因表现出高度的保守性,鉴定出的等位基因数量较少,单一等位基因的优势高频。高分辨率 KIR 等位基因基因分型揭示了个体和人群之间独特的序列变异和等位基因单倍型。KIR 等位基因和单倍型的分布对遗传群体研究很有用,并为未来的移植匹配和疾病关联研究提供了基线。

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