HLA-A基因多态性与陕西地区回族非梗阻性无精症的相关性研究

HLA-Agenetic polymorphism and its association with non-obstructive azoospermia in Hui minority in Shaanxi Province

目的探索人类白细胞抗原A(HLA-A)基因在陕西地区回族非梗阻性无精症(NOA)人群中的多态性分布及其与无精症发病风险的关联。方法采用聚合酶链反应-直接测序技术(PCR-SBT),检测59例陕西回族NOA患者和61例回族对照男性人群中HLA-A的基因多态性分型,分析HLA-A的基因型分布特点及其与NOA患病风险的相关性。结果HLA-A基因在NOA患者和对照组人群中均呈高度多态性分布。在NOA患者组检测到19种HLA-A基因型,在对照组亦检测到19种HLAA基因型。与对照组相比,HLA-A~*26∶01基因型在NOA组高表达,也就是说,HLA-A~*26∶01基因型具有较高的NOA患病风险(OR=3.340,95%CI:1.045~10.670)。结论 HLA-A~*26∶01基因型与陕西回族人群NOA发病风险明显关联,可能是NOA的易感基因型。

Objective To explore the distribution of human leucocyte antigen A （HLA-A） and to clarify its association with non-obstructive azoospermia （NOA） in Hui people living in Shaanxi Province. Methods The HLA-A loci in 59 patients with NOA and 61 healthy male controls were genotyped with polymerase chain reaction sequence based typing （PCR-SBT）. Re-sults Altogether 19 HLA-A alleles in the NOA patients and 19 alleles in the controls were detected. Compared with the con-trols,the NOA patients had a significantly increased expression of HLA-A 26 ： 01 genotype （OR 3. 340,95 CI：1. 045- 10. 670）. Conclusion HLA-A 26 ： 01 genotype is a risk factor of NOA susceptibility in Hui minority living in Shaanxi Prov-ince.