脆性X智力低下1基因与原发性卵巢功能不全的相关性研究  

Study on the correlation between fragile X mental retardation 1 gene and primary ovarian insufficiency

作　　者：樊李平[1] 李慧[1] 易红[1] FAN Liping;LI Hui;YI Hong(Department of Obstetrics,Shenzhen Baoan Women’s and Children’s Hospital,Guangdong,Shenzhen 518000,China)

机构地区：[1]深圳市宝安区妇幼保健院产科,广东深圳518000

出　　处：《中国医药科学》2022年第15期120-122,150,共4页China Medicine And Pharmacy

基　　金：广东省深圳市宝安区医疗卫生科研项目(2016CX247)。

摘　　要：目的 观察脆性X智力低下1(FMR1)基因与原发性卵巢功能不全(POI)的相关性。方法 选取深圳市宝安区妇幼保健院于2018年10月至2020年10月接收的POI患者50例作为试验组,另选取进行婚前检查或孕前检查的健康人群50例作为对照组,对两组人群中FMR1基因进行基因测序,了解试验组和对照组FMR1基因前突变的分布,观察不同年龄、FMR1基因前突变片段区间的三核苷酸重复序列(CGG)重复数目,了解CGG序列重复数目与POI发病年龄的关系。结果 两组患者不同年龄、片段区间的CGG序列重复数目比较,差异有统计学意义(P <0.05);年龄、片段区间是POI的独立危险因素(OR=1.867、1.558,P=0.022、0.017)。结论 POI发生年龄、片段区间与FMR1基因前突变CGG序列重复数目可能相关。Objective To observe the correlation between fragile X mental retardation 1(FMR1) gene and primary ovarian insufficiency(POI). Methods A total of 50 patients with POI admitted to Shenzhen Baoan Women’s and Children’s Hospital from October 2018 to October 2020 were selected as the test group, and another 50 healthy people for pre-marriage physical examination or pre-pregnancy check were selected as the control group. Gene sequencing of FMR1 gene was performed to find the distribution of pre-mutations of FMR1 gene in the test group and the control group, and to observe the number of trinucleotide repeat sequences(CGG) in the pre-mutant fragment region of FMRI gene at different ages in order to investigate the correlation between the number of CGG repeats and the age at POI onset. Results There was significant difference in the number of CGG sequence repeats between the two groups at different ages and fragment intervals(P < 0.05). Age and fragment interval were the independent risk factors of POI(OR=1.867, 1.558, P=0.022, 0.017). Conclusion The number of CGG repeats in the pre-mutant fragment region of the FMR1 gene may be related to the age at POI onset.

关 键 词：原发性卵巢功能不全 FMR1基因 相关性研究 基因突变 

分 类 号：R711.75[医药卫生—妇产科学]