四川骨髓库汉族人群HLAD-RB1^＊14等位基因分布  

DRB1·14 diversity in Sichuan Han population in China

作　　者：王珏[1] 罗玫[1] 陈雪黎[1] 黄淑[1] 田素华[1] 邹海[2] 郑忠伟[1] 陈静娴[1] 陈强[1] 

机构地区：[1]中国医学科学院北京协和医学院输血研究所,四川成都610081 [2]四川省脐带血造血干细胞库

出　　处：《中国输血杂志》2008年第4期273-276,共4页Chinese Journal of Blood Transfusion

摘　　要：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。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 intronspecific 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.

关 键 词：骨髓库 HLA-DRB1^＊14 基因频率 PCR-SBT 

分 类 号：R457.11[医药卫生—治疗学]