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| The correlation between early-onset ovarian insufficiency of women and their TGFBR3 gene polymorphism |
| The First Affiliated Hospital of Xinjiang Medical University，Wulumuqi, Xinjiang, 830054 |
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Abstract Objective: To investigate the correlation between early-onset ovarian insufficiency of women and their TGFBR3 gene polymorphism. Methods: A case-control study was conducted, and 57 women with early-onset ovarian insufficiency were included in the study group and 61 reproductive age women with normal menstrual cycle and basal sex hormones levels were included in control group. The peripheral blood samples of women in the two groups were collected for extracting DNA, and specific primers for the coding region of exon 18 of the TGFBR3 gene was designed for performing multiplex PCR amplification, and then the corresponding Barcode primers was used for distinguished. The amplicons were subjected to high-throughput sequencing to detect the polymorphism of TGFBR3 gene. Results: The karyotypes of women in the study group were all normal 46, XX. There were significant different in body mass index, the levels of follicle-propoietin, luteinizing hormone, anti Miillerian Hormone, and statin B of women between the two groups, and there were significant different in gene frequency and frequency of 18 exon 1:92149139g /A and 1:92149096g /A of TGFBR3 gene, and frequency of allele of women between the two groups o (P<0.05). Conclusion: The mutation rate of TGFBR3 gene of women with early-onset ovarian dysfunction is high, which suggests that it may be related to the occurrence of early-onset ovarian dysfunction.
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