Polymorphisms and disease associations of receptor gene families for class I antigens

研究了KIR、NKG 2、LILR家族和NKp30基因的多态性。在KIR家族中，分析了17个不同KIR基因的谱和单倍型。关于NKG2A、NKG2C和NKp30基因多态性，已分别鉴定出11、4和5个不同的等位基因。此外，我们发现NKG2C基因缺失的频繁发生。我们进一步通过核苷酸序列测定阐明了缺失的断点，并建立了检测缺失杂合子的系统。LILR家族的ILT2基因也有许多等位基因，其中一些与类风湿关节炎（RA）有显著相关性。带状疱疹和带状疱疹后神经痛（PHN）的关联研究已经进行，并显示一个特定的HLA单倍型易感PHN。此外，我们发现一个新的情况下，HLA I类缺陷是由Tapasin基因的部分缺失。在这种情况下，I类分子表达水平的降低小于TAP 1基因缺失中的降低。

Polymorphisms of human genes of KIR, NKG2, LILR families and NKp30 have been investigated. On the KIR family, profiles and haplotypes of 17 different KIR genes were analyzed. Concerning the NKG2A, NKG2C and NKp30 gene polymorphisms, 11, 4 and 5 different alleles have been identified, respectively. Moreover, we found the frequent occurrence of NKG2C gene deletion. We further elucidated the breakpoints of the deletion by nucleotide sequencing, and then established a system for detecting heterozygotes with deletion. The ILT2 gene in the LILR family was also found to have many alleles, and some of them showed significant associations with rheumatoid arthritis (RA). Association studies on herpes zoster and post-herpetic neuralgia (PHN) have been performed, and a specific HLA haplotype was shown to predispose susceptibility to PHN. Furthermore, we found that a new case of HLA class I deficiency was caused by a partial deletion of the Tapasin gene. In this case, decrease of the expression levels of class I molecules was less than that in the TAP1 gene deletion.