中国北方汉族人群HLA基因多态性研究  

HLA allele polymorphism in northern Hans of China

作　　者：宋永红[1] 马春红[2] 吕红娟[1] 朱传福[1] 聂向民[1] 王玫[1] 刘艳[1] 张萍[1] 

机构地区：[1]山东省血液中心,山东济南250014 [2]山东大学医学院免疫学研究所,山东济南250012

出　　处：《山东大学学报（医学版）》2007年第6期546-553,共8页Journal of Shandong University:Health Sciences

基　　金：山东省卫生厅青年科学研究基金资助项目(2003-38);中国造血干细胞捐献者资料库基金资助项目

摘　　要：目的:分析中国北方汉族人群HLA-A,-B,-DRB1位点基因多态性,获得完整、准确的北方汉族HLA分子遗传学数据。方法:应用PCR-SSP及SSOP技术对8 924名北方汉族造血干细胞志愿捐献者进行HLA-A,-B,-DRB1位点基因分型。结果:共检出低分辨HLA-A基因18种,HLA-B基因44种,HLA-DRB1基因13种,其中包括某些以前国内未检出的低频率基因。北方汉族人群最常见的HLA基因为A*02、B*13和DRB1*15,其相应基因频率分别为0.2886、0.1430和0.1759;北方汉族人群最常见的A-B单倍型为A*30-B*13,频率为0.0895,最常见的A-B-DRB1单倍型是A*30-B*13-DRB1*07,频率为0.0742。结论:北方汉族人群HLA-A,-B,-DRB1基因具有显著多态性,大样本和DNA分型有助于HLA低频率基因的检出。Objective： To analyze the polymorphism of HLA-A,-B, and -DRB1 in northem Hans of China and obtain more comprehensive and accurate data about HLA molecular genetics. Methods： The methods of polymerase chain reaction-sequence specific primers and -sequence specific oligonucleotide probing（PCR-SSP and -SSOP） were used to determine the HLA-A,-B, and -DRB1 alleles in 8 924 unrelated healthy Han individuals in northern China. Results： Low resolution alleles 18 HLA-A, 44HLA-B and 13 HLA-DRB1 including some rare HLA alleles that had not been reported in China before were discovered in this study. The most prevalent HLA types were A ^＊ 02, B^ ＊ 13 and DRB1 ^＊15, with a gene frequency of 0.288 6, 0.143 0 and 0.175 9 respectively. The most common A-B haplotype in this study was A ^＊30- B ^＊ 13 with a haplotype frequency of 0.0895. The most common HLA-A-B-DRB1 haplotype was A ^＊ 30-B ^＊ 13-DRB1^8 07 with a haplotype frequency of 0.074 2. Condusion： HLA-A, -B, and -DRB1 alleles in the northern Hans of China are high polymorphic. Large scale DNA based on HLA genotyping contributes to the detection of low frequency alleles.

关 键 词：HLA抗原 基因 多态性 单核苷酸 人类基因组项目 

分 类 号：R394.5[医药卫生—医学遗传学]