PCR-SBT检测HLA-C座位1-7外显子序列鉴别HLA-C~*07:01:01G和C~*07:02:01G组等位基因

本研究旨在探讨区分人类白细胞抗原(HLA)-C*07:01:01G和HLA-C*07:02:01G组内等位基因,并分析其与HLA-B的连锁情况。通过收集HLA-C*07:01:01G组和HLA-C*07:02:01G组标本,采用聚合酶链反应测序分析方法(PCR-SBT)检测HLA-C座位第1-7外显子编码序列,并采用PCR-SBT方法对标本进行HLA-B基因分型。结果表明,13例HLA-C*07:01:01G组标本中,4例(30.8%)标本为HLA-C*07:01:01,9例(69.2%)标本为HLA-C*07:06;连锁分析显示,HLA-C*07:06与HLA-B*44:03高度连锁。102例HLA-C*07:02:01G组标本全部为HLA-C*07:02:01;连锁分析显示,HLA-C*07:02:01与HLA-B*51:01、B*46:01、B*39:01、B*40:01、B*38:02、B*15:02高度连锁。结论:HLA-C*07:01:01G组中发现存在HLA-C*07:01:01和HLA-C*07:06,而HLA-C*07:02:01G组中以HLA-C*07:02:01为主导。

Discrimination of alleles in HLA-C*07:01:01G and HLA-C*07:02:01G groups through detection sequences in exons 1 to 7 of HLA-C locus by using polymerase chain reaction sequence-based typing

This study was aimed to discriminate the alleles in the HLA-C*07:01:01G and HLA-C*07:02:01G groups and analyze their associations with HLA-B locus. Samples previously typed as HLA-C*07:01:01G and HLA-C*07:02:01G were collected. The nucleotide sequences in exons 1 to 7 of the HLA-C locus were sequenced by polymerase chain reaction sequence-based typing (PCR-SBT) and HLA-B genotyping was also preformed by PCR-SBT in these samples. The results showed that 4 samples (30.8%) were confirmed as HLA-C*07:01:01 and 9 samples (69.2%) were HLA-C*07:06 among 13 samples previously typed as HLA-C*07:01:01G. Linkage disequilibrium (LD) analysis showed that HLA-C*07:06 allele was strongly related with HLA-B*44:03. All samples were typed as C*07:02:01 among 102 individuals previously typed as C*07:02:01G. LD analysis showed that C*07:02:01 was strongly related with HLA-B*51:01, B*46:01, B*39:01, B*40:01, B*38:02, B*15:02 alleles. It is concluded that HLA-C*07:01:01 and HLA-C*07:06 alleles are confirmed in the HLA-C*07:01:01G group and HLA-C*07:02:01 is a preferred allele in the HLA-C*07:02:01G.