皖籍汉人HLA-DQA1基因型与SLE相关性研究

目的　探讨皖籍汉人HLA DQA1等位基因多态性与系统性红斑狼疮 (SLE)相关关系。方法　采用多聚酶链反应 /限制性片断长度多态性 (PCR/RFLP)方法 ,对 2 8例SLE患者和 2 8例健康对照血样HLA DQA1基因进行分析 ,寻找相关的基因型。结果　皖籍汉族SLE患者具有显著高的DQA1 0 10 1或 0 10 2 ,二者总OR =6.92 ,P <0 .0 0 5 ,未发现其他DQA1等位基因与SLE相关。结论　皖籍汉人SLE相关联的基因可能并不完全同于其他地区汉族人 ,结果为进一步研究皖籍汉族人SLE的遗传易感度和家族患病率的估计提供线索。

Study on the Association of HLA-DQA1 Alleles and Systemic Lupus Erythematosus in Anhui Hans Chinese

Objective To explore the relationship between allelic polymorphism of HLA-DQA1 gene and systemic lupus erythematosus (SLE) in the Han’s nationality of Anhui Chinese.Methods The technique of polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) was conducted to analysis HLA-DQA1 gene of 56 blood samples (28 from the cases and 28 from the controls).Compared the result of cases with normal controls by χ 2 test.Results There was a significantly higher frequency of DQA1*0101 or DQA1*0102 allele in SLE patients.The total odds ratio (OR) was equal to 6.92 and P-value was less than 0.005.There was not any other association between DQA1 allelic frequencies and SLE.Conclusion These results suggest the associated allele of SLE patients in Anhui Hans are not the same as other Hans.At the same time,our result also offer a clue to study the genetic susceptibility degree of SLE in Anhui Hans and to evaluate the prevalence among their relatives as well.