广西壮族人HLA-DQB1等位基因与β地中海贫血的相关性

Association of HLA DQB1 alleles and the susceptibility to β thalassemia in Guangxi Chinese Zhuang nationality

目的：探讨ＨＬＡ抗原与β地中海贫血（地贫）的相关性。方法：应用聚合酶链反应序列特异引物（ＰＣＲＳＳＰ）方法对６４名随机抽样的，无血缘关系，三代以上均为壮族并三代以上居住在广西，籍贯分布广西各地，均在本实验室经基因诊断证实为β地贫的患者进行ＨＬＡＤＱＢ１基因分型。结果：发现ＨＬＡＤＱＢ１０６０４等位基因在该群体中频率为１２．５％，对照组为１．４％；其相对危险度为９．９，与对照组比较，有非常显著差异（显著性检验χ２＝２０．７８，Ｐ＜０．００５）。

Objective:To investigate the relationship between HLA DQB1 allele and susceptibility to β thalassemia in Guangxi Chinese Zhuang nationality.Methods:The polymorphism of the HLA DQB1 loci in 64 randomly selected,unrelated Guangxi Zhuang individuals with β thalassemia was investigated by PCR SSP.Results:Compared with normal controls,the frequency of HLA DQB1*0604 allele was significantly increased in the patient group,with a relative risk(RR) of 9.9(χ 2=20.78,P<0.005),while the frequencies of other HLA DQB1 alleles did not in the patient group.Conclusion:The susceptibility to β thalassemia in the Guangxi Zhuang individuals is associated with HLA DQB1*0604 allele.