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子宫内膜异位症患者HLA-DRB1等位基因多态性研究
Study on polymorphism of HLA-DRBl allele in patients with Endometriosis
【Author】 Wang Xin, Fang Xiaoling, Liu Chunyu, et al . The Xiangya Second Hospital of Hunan Medical Univiersity, Changsha, Hunan. 410011, China
【机构】 中南大学湘雅二医院遗传室;
【摘要】 目的探讨子宫内膜异位症(内异症)与HLA-DRB1等位基因之间的易感相关性。方法采用PCR-SSP法对40例内异症患者及50例正常女性(对照组)的HLA-DRB1等位基因位点进行分类。内异症组和对照组均为无血缘关系的湖南籍汉族妇女。结果内异症组和对照组共检出13种DRB1等位基因。内异症组等位基因检出率最高者是 DRB1*15,阳性率为45%(18/40),AF=0.2584,对照组DRB1*15的阳性率为26%(13/50),AF=0.1398, RR=2.1,Fisher P值=0.0309<0.05,两组之间差异有显著性。进一步分析两组的DRB1*15等位基因多态性,共检出1501和1502两个多态性位点,该两个多态性位点的频率在内异症组和正常对照组中的差异无显著性(P>0.05)。结论内异症的发生与HLA-DRB1*15存在关联,而与其等位基因多态性无明显联系。
【Abstract】 Objective To study the possibility of a correlation between occurrence of Endometriosis (EM) and polymorphism of human leukocyte antigen (HLA) DRB1 allele. Methods Polymorphism of HLA-DRB1 allele were detected by polymerase china reaction-sequence specific primers (PCR-SSP) testing 40 surgically proven EM patients and 50 normal control. Results At HLA-DRB1*15 allele, positive frequency of EM group was significant higher as compared with those of the normal control group [45% Vs 26%, P<0.05, relative risk (RR)= 2.1 ]. Other HLA-DRB1 allele positive frequency of EM group and control group had no significant difference. But for Polymorphism of DRB1*15 allele, positive frequency of EM group and control group had no significant difference[1501:35% Vs 20%; 1502:10% Vs 6%; P>0.05]. Conclusion The occurrence of EM may be associated with the presence of HLA-DRB1 allele, but hasn’t associated about polymorphism of DRB1*15 allele.
- 【会议录名称】 第六次全国医学遗传学学术会议文摘汇编
- 【会议名称】第六次全国医学遗传学学术会议
- 【会议时间】2005-12
- 【会议地点】中国北京
- 【分类号】R711.71
- 【主办单位】中国遗传学会人类和医学遗传专业委员会、中华医学会遗传分会