Department of Medical Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada.
Hum Immunol. 2010 Dec;71(12):1251-4. doi: 10.1016/j.humimm.2010.09.013. Epub 2010 Sep 25.
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.
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。