四川骨髓库汉族人群HLAD-RB1~*14等位基因分布

目的研究四川骨髓库中四川籍汉族人群HLAD-RB1*14等位基因分布。方法在四川骨髓库8934名四川汉族造血干细胞捐献志愿者中随机筛选107例中低分辨为DRB1*14的样本,以PCR-SBT分型技术检测DRB1位点的第2外显子以鉴定HLAD-RB1*14等位基因。结果共检出6种DRB1*14等位基因,包括DRB1*140101/1454(56.0%),DRB1*1403(1.8%),DRB1*1404(11.0%),DRB1*140501(27.5%),DRB1*140701(1.8%)和DRB1*1425(1.8%);其中最主要的DRB1*140101/1454频率与美国亚裔/太平洋岛民接近,而与高加索人、非洲裔美国人、西班牙裔及韩国人和中国北方汉族中的分布有显著性差异;DRB1*140501和DRB1*1404则与中国北方汉族分布类似;本研究未检到的等位基因在四川汉族DRB1*14阳性个体中的频率低于3%。结论四川汉族人群HLA-DRB1*14等位基因呈现多样性并存在自身特点。

DRB1* 14 diversity in Sichuan Han population in China

Objective To investigate the diversity of HLA-DRB1*14 alleles in Sichuan Han population.Methods According to the HLA-DRB1 low resolution results,107 DRB1*14 positive samples were randomly selected from the 8934 Sichuan Han individuals.DRB1*14 alleles were identified by sequencing exon 2 using commercial kit or intron-specific primers.Results Only 6 of the known DRB1*14 alleles were detected,including DRB1*140101/1454(56.0%),DRB1*1403(1.8%),DRB1*1404(11.0%),DRB1*140501(27.5%),DRB1*140701(1.8%) and DRB1*1425(1.8%).DRB1*1401/1454 was found at a high frequency in Sichuan Han populations as in Asians/Pacific Islander;the frequencies of DRB1*1404 and DRB1*140501 were similar to the Han population in Northern China.Approximately 93% of the already known DRB1*14 alleles were not observed and are probably found at a frequency of less than 3% in DRB1*14 positive populations.Conclusions The diversity of HLA-DRB1*14 alleles in Sichuan Han population was unique.