HLA-DRB1基因多态性与陕西汉族妇女患中重度EM风险的相关性  

Association of HLA-DRB1 gene polymorphism with moderate to severe endometriosis in females of Han nationality in Shaanxi Province

作　　者：黄晓春[1] 吕茉琦 杜良智[2,3] 任文娟[2,3] 周党侠[2,3] 

机构地区：[1]西安市第四医院妇产科,陕西西安710004 [2]西安交通大学医学部病理系,陕西西安710061 [3]西安交通大学医学部生殖医学中心,陕西西安710061

出　　处：《中国妇幼健康研究》2017年第3期270-273,共4页Chinese Journal of Woman and Child Health Research

摘　　要：目的探讨HLA-DRB1基因多态性在陕西汉族中重度子宫内膜异位症(EM)人群中的分布及其与EM发病风险的关联性。方法采用聚合酶链反应-直接测序技术(PCR-SBT),检测50例中重度EM患者和52例正常对照人群中HLADRB1的基因多态性分型,分析其基因型分布及其与中重度EM发病风险的相关性。结果 HLA-DRB1基因在EM组和对照组人群中均呈高度多态性分布;EM组人群中检测到22种HLA-DRB1基因型,其中基因型频率大于5%分别为HLA-DRB1*07:01(18%),DRB1*15:01(12%),DRB1*09:01(11%),DRB1*12:01(7%),DRB1*12:02(7%),DRB1*14:54(6%),DRB1*15:02(6%)和DRB1*14:05(5%)。在对照组中人群中检测到24种HLA-DRB1基因型,其中基因型频率大于5%分别为HLADRB1*15:01(16.3%),DRB1*07:01(14.4%),DRB1*12:02(8.7%),DRB1*12:01(8.7%),DRB1*09:01(6.7%)和DRB1*04:05(5.8%)。HLA-DRB1各基因型在EM组与对照组中的分布未见明显统计学差异。结论 HLA-DRB1基因多态性与陕西汉族中重度EM发病风险无明显关联。Objective To investigate the distribution of HLA-DRB1 gene polymorphism in females of Han nationality with moderate to severe endometriosis（ EM） in Shaanxi Province and its association with EM risk. Methods Polymerase chain reaction sequence-based typing（ PCR-SBT） method was used for DNA genotyping at HLA-DRB1 locus in 50 patients with moderate to severe EM and 52 healthy controls in females to analyze the association between genotype distribution of HLA-DRB1 alleles and risk of moderate to severe EM.Results Both in EM group and control group HLA-DRB1 appeared highly polymorphic. Twenty-two HLA-DRB1 alleles were detected in EM group,and the frequency of following genotypes was above 5%,HLA-DRB1 ＊ 07： 01（ 18%）,DRB1 ＊ 15： 01（ 12%）,DRB1 ＊ 09： 01（ 11%）,DRB1＊ 12： 01（ 7%）,DRB1＊ 12： 02（ 7%）,DRB1＊ 14： 54（ 6%）,DRB1＊ 15： 02（ 6%） and DRB1＊ 14： 05（ 5%）.Twenty-four HLA-DRB1 alleles were detected in control group,and the frequency of following genotype was above 5%,HLA-DRB1＊ 15：01（ 16. 3%）,DRB1＊ 07： 01（ 14. 4%）,DRB1＊ 12： 02（ 8. 7%）,DRB1＊ 12： 01（ 8. 7%）,DRB1＊ 09： 01（ 6. 7%） and DRB1＊ 04：05（ 5. 8%）. However,no significant differences in these allelic frequencies were found between EM group and control group. Conclusion HLA-DRB1 gene polymorphism does not significantly associated with risk of moderate to severe EM in females of Han nationality in Shaanxi Province.

关 键 词：HLA-DRB1基因 子宫内膜异位症 基因多态性 聚合酶链反应-直接测序技术 

分 类 号：R173[医药卫生—妇幼卫生保健]