Inactivating Mutation screening of Exon 6 and Exon 10E of FSHR gene in women with Polycystic Ovarian Syndrome in Vellore population

14th International Conference on Science, Engineering and Technology

自然科学;工业技术

Sekar, Nishu^1 ; Sapre, Madhura^1 ; Kale, Vaikhari^1 ; Prabhu, Yogamaya D.^1 ; Renu, Kaviyarasi^1 ; Ramgir, Shalaka S.^1 ; Abilash, V.G.^1

Department of Biomedical Sciences, School of Bio Sciences and Technology, VIT University, Vellore, Tamil Nadu, India^1

关键词: Candidate genes;    Follicular development;    Hormone levels;    Polycystic ovarian syndrome;    Receptor-ligand complex;    Rotterdam;   

Others  :  https://iopscience.iop.org/article/10.1088/1757-899X/263/2/022035/pdf
DOI  :  10.1088/1757-899X/263/2/022035

来源: IOP

【 摘 要 】

Polycystic Ovarian syndrome (PCOS) is a major cause of infertility in females of reproducing age and is typified by oligo-anovulation, hyperandrogenism, hirsutism and polycystic ovaries. FSHR gene located on chromosome 2 p21 is responsible for the normal follicular development and any deletion or mutation in the gene affects the interaction of FSH with its receptor. Thus, it becomes the candidate gene for PCOS study. Inactivating mutation in FSHR gene limits the receptor's function by creating a complete block, changing the receptor-ligand complex or the basic hormone signal transduction.To screen the inactivating mutations in Exon 6 and Exon 10E of FSHR gene in women diagnosed with PCOS.PCR-RFLP analysis indicated that there were no inactivating mutations found in Exon 6 and Exon 10E. Variations in hormone levels were seen amongst the PCOS patients. There were no inactivating mutations found in FSHR gene of the women diagnosed with PCOS according to the Rotterdam criteria in Vellore population.