Steiner N K, Hurley C K
Department of Oncology, CW Bill Young Marrow Donor Recruitment and Research Program, Georgetown University Medical Center, Washington DC 20057, USA.
Tissue Antigens. 2006 Apr;67(4):277-83. doi: 10.1111/j.1399-0039.2006.00567.x.
KIR3DL3 alleles were characterized in two families and one unrelated individual. Based on exon 2-9 nucleotide sequences, six novel alleles, 3DL3*00402, *005, 006, 007, 00801, 00802, were identified bringing the total number of known alleles to 11. Compared with 3DL3001, the six new alleles differ by from three to nine nucleotides and from three to four amino acids. The new alleles double the number of known polymorphic positions to 18 with variation in exons encoding the extracellular domains, transmembrane region, and a portion of the cytoplasmic tail. Many of the nucleotide substitutions are shared among alleles of 3DL3 or other KIR loci, but five were found only in single 3DL3 alleles. Comparison of intron sequences among individuals carrying the same allele showed a modest number of substitutions with the exception of 3DL3001 which differed substantially in its intron sequences. Two alleles sharing coding region sequences, 3DL300201 and 3DL300202, were also substantially different in intron sequences.
在两个家族和一名无关个体中对KIR3DL3等位基因进行了特征分析。基于外显子2 - 9的核苷酸序列，鉴定出六个新的等位基因，即3DL3*00402、*005、006、007、00801、00802，使已知等位基因总数达到11个。与3DL3001相比，这六个新等位基因在3至9个核苷酸以及3至4个氨基酸上存在差异。新等位基因使已知多态性位点的数量增加了一倍，达到18个，这些多态性存在于编码细胞外结构域、跨膜区域和部分胞质尾的外显子中。许多核苷酸替换在3DL3或其他KIR基因座的等位基因中是共享的，但有五个仅在单个3DL3等位基因中被发现。对携带相同等位基因的个体的内含子序列进行比较发现，除了3DL3001的内含子序列存在显著差异外，其他内含子序列的替换数量较少。两个共享编码区序列的等位基因，3DL300201和3DL300202，在内含子序列上也存在显著差异。
