168名广东β-重症地中海贫血患者的HLA高分辨基因多态性分析

HLA high resolution polymorphism of 168 β-thalassemia patients from Guangdong

目的探讨广东地区β-重症地中海贫血患者HLA高分辨多态性及其遗传易感性。方法采用PCR-SSP技术对168名广东籍β-重症地中海贫血患者(病例组)及138名正常无血缘关系广东供者(对照组)作HLA-A、-B和-DRB1基因高分辨分型,并对这2组人群的HLA-A、-B、-DRB1等位基因频率、A-B、B-DRB1和A-B-DRB1单体型频率作统计学分析。结果病例组HLA-A*02∶03、A*11∶02/11∶53、DRB1*16∶02等位基因频率分别为9.27%、4.21%、8.23%,高于对照组的3.70%、1.11%、4.44%(P<0.05)。病例组单体型B*38∶02-DRB1*16∶02频率与对照组相比具有统计学差异(P<0.05)。结论广东地区β-重症地中海贫血患者HLA高分辨基因多态性广泛,单体型分布分散,其与正常人之间HLA基因多态性和单体型的差异有可能是疾病易感因素。

Objective To explore human leukocyte antigen （HLA） high resolution polymorphisms and genetic suscepti-bilities of β-thalassemia patients from Guangdong. Methods Polymerase chain reaction-sequence specific primer （PCR-SSP） technique was used to analyze high resolution polymorphisms of HI_A-A,-B and -DRB1 alleles among 168 β-thalassemia Cantonese patients,as well as 138 healthy volunteer donors also from Guangdong. The allele frequency of HLA-A ,-B,-DRB1 locus and haplotypes of A-B,B-DRB1 and A-B-DRB1 were compared between patients and the controls. Results The fre-quency of HLA-A^＊ 02：03 ,A^＊ 11 ： 02/11 ： 53, DRB1 ^＊ 16 ： 02 is 9.27%, 4.21%, 8.23%, respectively in β-thalassemia pa-tients, and 3.70% ,1.11% ,4.44% in controls. The frequencies of patients are significantly higher than that of the controls（ P 〈 0.05 ）. One haplotype （B^＊ 38：02-DRB1^＊ 16：02 ） is found with statistical significance in β-thalassemia patients as com-pared with the control. Conclusion There are enormous HLA polymorphisms and haplotypes of β-thalassemia patients from Guangdong populations, and the HLA alleles and haplotypes found in our study might serve as a potential genetic factor for β-thalassemia.