卵巢早衰与AMH、FMR1基因表达的相关性研究  

Relationship between premature ovarian failure and expression of AMH and FMR1 genes

作　　者：孟伟伟[1] 彭丽[1] 刘晓君 MENG Wei-wei;PENG Li;LIU Xiao-jun(Department of Clinical Laboratory,Shiyan People＇s Hospital of Bao＇an District,Shenzhen,Guangdong 518108,China;Department of intensive care,Shenzhen City People＇s Hospital,Shenzhen,Guangdong 518000,China)

机构地区：[1]深圳市宝安区石岩人民医院检验科,518108 [2]深圳市人民医院重症监护室,广东深圳518000

出　　处：《中国优生与遗传杂志》2018年第8期18-20,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市宝安区科技计划基础研究项目(2017JD098);项目名称:宝安地区汉族女性FMR1基因突变对卵巢储备功能的影响

摘　　要：目的研究探讨卵巢早衰与AMH、FMR1基因表达间的相关性,以期为卵巢早衰的发病机制研究提供依据。方法选择2016年9月~2017年9月期间在深圳市宝安区石岩人民医院进行诊断治疗的卵巢早衰患者100例为研究对象纳入观察组,另取同期在我院健康体检中心进行健康体检的100例女性志愿者为对照组。对观察组和对照组受试对象进行外周血DNA提取,并进行PCR扩增和基因测序。对两组研究对象的抗苗勒管激素基因(Anti Mullerian hormone gene,AMH)和脆性X智力障碍基因(Fragile mental retardation gene,FMR1)的表达和突变情况进行对比分析,并观察卵巢早衰与AMH、FMR1基因表达间的相关性。结果 (1)观察组与对照组基因测序结果比较显示,观察组AMH基因突变位点基因型和等位基因频率与对照组相比差异有统计学意义(P<0.05)。(2)观察组与对照组基因测序结果比较显示,观察组FMR1基因突变的CCG序列重复次数高于对照组,组间比较差异有统计学意义(P<0.05)。结论 AMH基因突变位点的基因型和等位基因频率以及FMR1基因CGG重复序列表达与卵巢早衰的发病有一定的相关性,AMH、FMR1基因多态性可能是卵巢早衰的重要发病机制。Objective：To investigate the correlation between premature ovarian failure and the expression of AMH and FMR1 genes,so as to provide the basis for the study of pathogenesis of premature ovarian failure. Methods：The September 2016~2017 year in September in Shenzhen of Baoan District City Shiyan people＇s Hospital for diagnosis and treatment of premature ovarian failure in patients with 100 cases as the research object in the study group,100 cases of female volunteers also take over the same period in our hospital for physical examination in physical examination center as control group. The peripheral blood DNA was extracted from the observation group and the control group,and PCR amplification and gene sequencing were performed. Two groups of subjects of anti Mullerian hormone gene（Anti Mullerian hormone gene,AMH）gene and fragile X mental retardation（Fragile mental retardation gene,FMR1）expression and mutation were analyzed,and to observe the correlation between the expression of AMH,FMR1 gene and premature ovarian failure between. Results：Compared with the control group,the results of gene sequencing showed that the genotype and allele frequency of AMH gene mutation in the observation group were significantly different from those in the control group（P〈0.05）. The results of gene sequencing in the observation group and the control group showed that the repeated sequence of FMR1 gene mutation in the observation group was higher than that in the control group,and the difference between the two groups was statistically significant（P〈0.05）.（CCG）. Conclusion：AMH gene mutation in the genotype and allele frequencies of FMR1 gene CGG repeat sequence expression has certain correlation and the incidence of premature ovarian failure,AMH,FMR1 gene polymorphism may be an important pathogenesis of premature ovarian failure.

关 键 词：卵巢早衰 抗苗勒管激素基因 脆性X智力障碍基因 基因表达 基因突变 

分 类 号：R394.3[医药卫生—医学遗传学]