The Study of Exon 2 of BMP15 and Exon 9 of BMPR1B Gene Polymorphisms in Iranian Infertile Women with Premature Ovarian Failure

Document Type : Research Paper

Authors

1 MSc. of Genetics, Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.

2 PhD student, Bioprocess Engineering Research Group; Institute of Industrial and Environmental Biotechnology (IIEB), National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran,Iran.

3 Assistant Professor of Animal Physiology, Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.

4 Professor of Medical Genetics, Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

5 Professor of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd Reproductive Sciences Research Institute, Abortion Research Center

Abstract

Introduction: Premature ovarian failure (POF) is the end of ovarian activity before the age of 40, which is associated with low levels of sex hormones and high levels of gonadotropins. Genetic factors play an essential role in POF. BMP15 and its receptor BMPR1B are members of the TGFβ superfamily that are expressed in the ovaries and are involved in folliculogenesis. Any changes in these genes may disrupt them. So, this study aimed to assess 4 SNPs in exon 2 of BMP15 and 2 SNPs in exon 9 of BMPR1B genes as candidate SNPs in infertile Iranian women with POF.
Materials and Methods: Using the Uniprot database and PCR-SSCP methods, the link between SNPs 443T>C, 468G>A, 538G>A, 598C>T of BMP15, and 945G>A, 1020A>G of BMPR1B gene in 45 women with POF and 45 healthy women with children, without any history of diseases related to folliculogenesis and ovulation were examined as controls. Then, PCR products with mobility shift were sent for sequencing and the results were analyzed with CLC software
Results: The results of gel electrophoresis, SSCP, and sequencing graphs of none of the SNPs, did not show a change in the sequence of the patients compared to the control samples.
Conclusion: According to the key role of BMP15 in folliculogenesis and previous reports; BMP15 may be effective in the occurrence of POF. The absence of SNPs in these POF patients can be due to the small size of the studied samples and their genetic differences.

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