Low normal or small CGG expansion of FMR1 gene and the risk of phenotypic associations:A systematic review and meta-analysis
作者单位：南京军区福州总医院临床遗传与实验医学科
会议名称：《第十四次全国医学遗传学学术会议》
会议日期：2015年
学科分类：1002[医学-临床医学] 100211[医学-妇产科学] 10[医学]
关 键 词：FMR1 gene low normal CGG repeat small CGG expansion phenotypic diseases ovarian dysfunction systematic review meta-analysis
摘 要：The CGG expansion(55)of FMR1(fragile X mental retardation 1)gene was traditional defined as normal ***,different expanded alleles might be associated with a quantity of phenotypic *** systematic review and metaanalysis aimed to investigate the pathological significance with low normal CGG repeat,and the association between small CGG expansion and ovarian *** retrieved9 studies described the association between the low normal CGG repeat and disorder *** these,5 articles manifested low normal CGG repeat had pathological implication and might contribute to terrible *** 13 papers were included in meta-analysis about the association between small CGG repeats and ovarian dysfunction,studies were classified into those including only allelic size with 354(n=8,OR=1.22,95%CI 0.75.00,P0.05),454(n=7,OR=1.03,95%CI 0.69.53,P0.05),and414(n=7,OR=1.77,95%CI 1.22.44,P0.05/POI:OR=1.21,95%CI 0.55-2.66,P0.05).All results suggested no significant difference in patients with ovarian dysfunction compared with ***,tendency to negative effects on the phenotype of various disorders were observed in the intermediate alleles range,such as parkinsonism,development *** below and above264 CGG repeat are essential for a routine part of carrier testing,especially thosewith phenotypic diseases,it would be extremely valuable for finding the pathogenesis of infertility and providing therapeutic approaches.