广东汉族人群HLA-B基因多态性研究

HLA-B gene polymorphism detected by high-resolution sequence-based typing in Guangdong Han populations

目的调查广东汉族人群HLA-B位点基因多态性,比较不同人群HLA-B等位基因频率分布特征。方法应用测序技术测定562名广东汉族人HLA-B位点第2、3、4外显子序列,比对数据库得到分型结果,计算HLA-B等位基因频率并与不同人群进行比较。结果共检测到59种HLA-B等位基因,其中6种等位基因频率≥5%,分别是HLA-B4601(14.5%),HLA-B400101(14.4%),HLA-B1502(11.5%),HLA-B1301(8.6%),HLA-B5801(8.1%)和HLA-B380201(6.4%)。这6种等位基因的等位基因频率合计为63.5%。同时,检测到30种等位基因频率<0.5%的HLA-B等位基因,这30种等位基因的等位基因频率合计为4.9%。广东汉族人群HLA-B等位基因频率总体分布与中国香港华人、新加坡华人比较差异无统计学意义(P>0.05),但与日本人比较差异有统计学意义。结论分析了HLA-B基因在广东汉族人群中的分布特征,提供了较完整的HLA-B等位基因频率分布资料,为遗传学及疾病相关性等研究提供了重要的参考数据。

Objective To investigate the genetic polymorphism of HLA-B locus in Guangdong Han population and compare the characteristic of the allele frequency distribution with that in other populations. Methods A total of 562 cord blood samples from Guangzhou Cord Blood Bank were analyzed by sequence-based typing. Then the sequences encompassing exons 2, 3, and 4 for HLA-B gene were analyzed by direct sequencing of PCR products. The allele frequency distribution of HLA-B in this population was compared with that in other populations. Results A total of 59 different HLA-B alleles were detected, and among them were 6 HLA-B alleles with frequencies higher than 5%; HLA-B 4601（14.5%）,HLA-B＊400101 （14.4%）,HLA-B＊1502 （11.5%）,HLA-B＊1301 （8.6%）, HLA-B＊5801 （8.1%） and HLA-B＊ 380201 （6.4%） ; the total frequency of these six alleles was 63.5%. At the same time, there were 30 kinds of HLA-B allele with frequencies lower than 0.5% ; the total frequency of these alleles was 4.9%. Maximum variation at HLA-B was seen in the HLA-B＊15 allele family （nine alleles）. Comparison of the HLA-B frequencies in different populations showed a close relationship of Guandong Han population with the Chinese populations from Hong Kong and Singapore, respectively. Conclusion The results have shown the characteristic of HLA-B distribution and provided more accurate genotypic data that may serve as normal reference value for the Han population in Guangdong, China.