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在一个东非人群中鉴定出四个新的 KIR2DL2 等位基因和两个新的 KIR2DL3 等位基因。

Identification of four novel KIR2DL2 alleles and two novel KIR2DL3 alleles in an East African population.

机构信息

Department of Medical Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada.

出版信息

Hum Immunol. 2010 Dec;71(12):1251-4. doi: 10.1016/j.humimm.2010.09.013. Epub 2010 Sep 25.

Abstract

We report four novel KIR2DL2 alleles and two novel KIR2DL3 alleles identified from an East African population using sequence-based typing. Sequencing and molecular cloning of exon 4 confirmed that the new 2DL2 alleles were identical to 2DL2003, except for the following nucleotide differences: 2DL200601 had a difference at codon 16 (CGC→CCC), resulting in a coding change from arginine to proline; 2DL200602 also had this difference at codon 16, as well as a synonymous difference (GAT→GAC) at codon 31; 2DL200303 had a synonymous difference (AAA→AAG) at codon 61; and 2DL200304 had a synonymous difference (GGG→GGA) at codon 75. 2DL3017 was identical to 2DL3005 except at codon 11 (CGG→CTG, arginine→leucine) and exon 9, codons 297 (CAC→CGC, histidine→arginine) and 321 (TGA→AGA, stop codon→arginine). 2DL300104 was identical to KIR2DL3*001 except for a synonymous difference (GAG→GAA) at codon 54. Identification of novel killer cell immunoglobulin-like receptor (KIR) alleles is a testament to the genetic diversity in this population.

摘要

我们报告了四个新的 KIR2DL2 等位基因和两个新的 KIR2DL3 等位基因,这些等位基因是从东非人群中通过基于序列的分型方法鉴定出来的。对exon 4 的测序和分子克隆证实,新的 2DL2 等位基因与 2DL2003 完全相同,除了以下核苷酸差异:2DL200601 在密码子 16(CGC→CCC)处存在差异,导致精氨酸突变为脯氨酸;2DL200602 也在密码子 16 处存在这种差异,同时在密码子 31 处存在同义差异(GAT→GAC);2DL200303 在密码子 61 处存在同义差异(AAA→AAG);2DL200304 在密码子 75 处存在同义差异(GGG→GGA)。2DL3017 与 2DL3005 完全相同,除了在密码子 11(CGG→CTG,精氨酸→亮氨酸)和exon 9 中,密码子 297(CAC→CGC,组氨酸→精氨酸)和 321(TGA→AGA,终止密码子→精氨酸)。2DL300104 与 KIR2DL3*001 完全相同,除了在密码子 54 处存在同义差异(GAG→GAA)。新的杀伤细胞免疫球蛋白样受体(KIR)等位基因的鉴定证明了该人群的遗传多样性。

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