论文部分内容阅读
The CGG expansion (5~55) of FMR1 (fragile X mental retardation 1) gene was traditional defined as normal range.Actually, different expanded alleles might be associated with a quantity of phenotypic diseases.The systematic review and meta-analysis aimed to investigate the pathological significance with low normal CGG repeat,and the association between small CGG expansion and ovarian dysfunction.We retrieved 9 studies described the association between the low normal CGG repeat and disorder phenotype.Of these, 5 articles manifested low normal CGG repeat had pathological implication and might contribute to terrible outcomes.While 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 35~54 (n=8, OR=1.22,95% CI 0.75~2.00, P>0.05) , 45~54 (n=7, OR=1.03, 95%CI 0.69~1.53, P>0.05) , and 41~54(n=7, OR=1.77, 95%CI 1.22~2.44, P<0.05).4 studies of POF(premature ovarian failure)and 4 studies of POI(Primary ovarian insufficiency)were performed a subgroup analysis in allelic size with 35~54 (POF: OR=1.32, 95% CI 0.57~3.07, P>0.05 / POI: OR=1.21, 95%CI 0.55~2.66, P>0.05).All results suggested no significant difference in patients with ovarian dysfunction compared with controls.However, tendency to negative effects on the phenotype of various disorders were observed in the intermediate alleles range, such as parkinsonism, development disabilities.Outliers below and above 26~34 CGG repeat are essential for a routine part of carrier testing, especially those with phenotypic diseases, it would be extremely valuable for finding the pathogenesis of infertility and providing therapeutic approaches.