Analysis of FMR1 gene CGG repeats among patients with diminished ovarian reserve].

Wenbin He, Weilin Tang, Yi Liao, Wen Li, Fei Gong, Guangxiu Lu, Ge Lin, Juan Du, Yueqiu Tan

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Apr 10

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To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR). For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis. Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations. FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.

Citation

Wenbin He, Weilin Tang, Yi Liao, Wen Li, Fei Gong, Guangxiu Lu, Ge Lin, Juan Du, Yueqiu Tan. Analysis of FMR1 gene CGG repeats among patients with diminished ovarian reserve]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021 Apr 10;38(4):343-346