Fragile X Mental Retardation 1 Gene CGG Expansion Sequence Mutation Detection And Analysis In Urumqi Han Women Of Childbearing Age

Objective:Thought analyzed and statistically analyzed the(FMR1)gene mutations in the women of childbearing age in Urumqi City,to obtain the FMR1 gene mutation in the area of the population in the sick and carry the situation.In order to provide information on the risk of fragile X syndrome(FXS)related genetic counseling,prenatal and prenatal diagnosis for high-risk FMR1 gene mutant carriers.Methods:Raised from June 2015 to September 2016 treatment of Urumqi Han women in childbearing age in line with the purpose of research as the target group of women.Signed the informed consent of the patient,extracted peripheral blood,FMR1 gene(CGG)n repeat gene was detected by extracting genomic DNA,capillary electrophoresis using Amplide X ? FMR1 PCR technique and PCR amplification.The international classification of subjects women were divided into negative group and positive group correlation between FMR1 gene mutation and ovarian insufficiency,the use of x 2 test was used for statistical analysis.Results: 1.There were 24 different alleles in the FMR1 gene of female women of childbearing age in Urumqi,and the number of CGG repeats was n = 19 ~ 51 times,the most common CGG number was 29(43.46%),followed by 30(27.69%).2.one case of FMR1 gene mutant intermediate type(N = 45-54)carriers were detected,the FMR1 gene mutation rate was 1/130 in female Han nationality.When the intermediate range was extended to N = 40-54 times,7 cases of intermediate carriers were detected,and the carrying rate was 7 / 130.3.Through the study on the correlation between FMR1 gene mutation and primary ovarian insufficiency,Χ2=10.625,P<0.05.Conclusion:1.the application of Amplide X?FMR1 PCR technology in the FMR1 gene(CGG)n repeat number detection saves time and effort,the results are reliable,can be used as a large sample screening.2.The incidence of FMR1 gene in Xinjiang city of Urumqi Han nationality women of childbearing age mutation and other Asian populations based on research results were similar,when the middle type is defined as the number of CGG repeats(N=40-54 times),the carrier rate was significantly higher than that of Asia and Europe reported similar results reported.3.The mutation of FMR1 gene may not be associated with ovarian function,FMR1 gene of CGG trinucleotide repeats in between 26 to 34 of fragile X related normal ovarian function.More than 26-34 of CGG repeat may be a high risk factor for ovarian dysfunction.