造血干细胞移植56例人类白细胞抗原基因和单倍型分析

Human leukocyte antigen allele and haplotype in 56 cases of hematopoietic stem cell transplantation

背景:收集56例欲行造血干细胞移植的供受者,均为无血缘关系的江西省汉族人群。了解个体的人类白细胞抗原基因型和单倍型。目的:分析56例造血干细胞移植供受者的人类白细胞抗原基因频率,单倍型频率。方法:收集56例欲行造血干细胞移植的供受者,均无血缘关系的江西省汉族人群。应用PCR-SSP的方法进行人类白细胞抗原(HLA)-A、B、DRB1基因分型,计算出HLA-A、B、DRB1各位点的基因频率和单倍型频率。结果与结论:56例供受者测出HLA-A位点等位基因8种,HLA-B位点等位基因19种,HLA-DRB1位点等位基因13种,呈现出丰富的基因多态性。56例供受者两位点共224条等位基因中,A﹡02-B﹡46、A﹡11-B﹡40、B﹡46-DRB1﹡09单倍型的频率高于0.10。有10种A-B单倍型,4种B-DRB1单倍型呈现出显著的连锁不平衡。提示江西省汉族人群人类白细胞抗原基因具有较丰富的基因多态性。

BACKGROUND： It has great significance to understand individual human leucocyte antigen allele （HLA） haplotype and genotype. OBJECTIVE： To analyze HLA allele frequency, haplotype frequency and characteristics in 56 cases of hematopoietic stem cell transplantation. METHODS： HLA-A, B, DRB1 antigen was subjected to genotyping using PCR-SSP technique. The allele and haplotype frequencies of HLA-A, B, DRB1 were calculated. RESULTS AND CONCLUSION： A total of 8 HLA-A, 19 HLA-B and 13 HLA-DRB1 alleles were detected among 56 cases, showing a rich polymorphism. Among 224 haplotypes, A﹡02-B﹡46, A﹡11-B﹡40, B﹡46-DRB1﹡09 were informative with frequency higher than 0.10. A total of 10 HLA-A-B haplotypes and 4 HLA-B-DRB1 haplotypes were in strongest linkage disequilibrium. Results showed that HLA alleles have richer polymorphisms with obvious geographic genetic characteristics.