Association of Exon 10A and 10B inactivating mutation of follicle stimulating hormone receptor gene (FSHR) and Polycystic Ovarian Syndrome in Vellore cohort

14th International Conference on Science, Engineering and Technology

自然科学;工业技术

Sekar, Nishu^1 ; Kulkarni, Rucha^1 ; Ozalkar, Sharvari^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, Tamilnadu

632014, India^1

关键词: DNA amplification;    DNA isolation;    Endocrine disorders;    Follicle-stimulating hormone receptors;    Granulosa cells;    Healthy controls;    Polycystic ovarian syndrome;    Restriction enzymes;   

Others  :  https://iopscience.iop.org/article/10.1088/1757-899X/263/2/022036/pdf
DOI  :  10.1088/1757-899X/263/2/022036

来源: IOP

【 摘 要 】

Polycystic ovarian syndrome is the most common heterogenous endocrine disorder in women. Follicle stimulating hormone receptor is associated with normal development as well as maturation of follicles and triggers estrogen production in granulosa cells of the ovary. Inactivating mutation in FSHR gene correlated with reduction of ovarian function in women is due to damage to receptor function. This study aims to investigate whether inactivating mutations, in follicle stimulating hormone receptor gene is related to polycystic ovarian morphology in women with PCOS. Genomic DNA isolated from 15 subjects from Sandhya Hospital, Vellore (10 patients with PCOS and 5 healthy controls) was taken for this study. Patient data included a clinical report, hormonal levels, and ovarian morphological details. DNA isolation was followed by DNA amplification by polymerase chain reaction using Exon 10 A and Exon 10 B primers. The PCR-RFLP analysis was performed using Dde1 restriction enzyme. Here we discuss inactivating mutation found in Exon 10 of FSHR gene in patients with PCOS.The absence of inactivating mutation was observed through PCR-RFLP study on Exon 10A and Exon 10B.