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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
引用本文:黄晓春,吕茉琦,杜良智,任文娟,周党侠. 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[J]. 中国妇幼健康研究, 2017, 28(3). DOI: 10.3969/j.issn.1673-5293.2017.03.016
作者姓名:黄晓春  吕茉琦  杜良智  任文娟  周党侠
作者单位: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;西安交通大学医学部生殖医学中心,陕西西安710061
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HLA-DRB1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%)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.

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

Association of HLA-DRB1 gene polymorphism with moderate to severe endometriosis in females of Han nationality in Shaanxi Province
HUANG Xiao-chun,LYU Mo-qi,DU Liang-zhi,REN Wen-juan,ZHOU Dang-xia. Association of HLA-DRB1 gene polymorphism with moderate to severe endometriosis in females of Han nationality in Shaanxi Province[J]. Chinese Journal of Maternal and Child Health Research, 2017, 28(3). DOI: 10.3969/j.issn.1673-5293.2017.03.016
Authors:HUANG Xiao-chun  LYU Mo-qi  DU Liang-zhi  REN Wen-juan  ZHOU Dang-xia
Abstract: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.
Keywords:HLA-DRB1 gene  endometriosis ( EM)  gene polymorphism  polymerase chain reaction sequence-based typing ( PCR-SBT)
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