Journal of Bioengineering & Biomedical Science

Polycystic ovary syndrome (PCOS) is multi-symptomatic gynecological disorder with high prevalence (5-10%)
among human females. Primarily it affects female reproductive system resulting in infrequent menstrual cycles. Visceral
adiposity, insulin resistance, hirsutism and infertility are other consequences of PCOS. Genetic as well as environmental
factors contribute for the progression of PCOS. Multiple studies revealed association of PCOS with mutations in different
genes specifically expressing androgens and androgen receptors. PCOS is an autosomal and X-linked disease. Inhibin
A downregulates the follicle stimulating hormone (FSH) to promote ovulation and normal menstrual cycle. Inhibin A is a
hetero dimer of INHA and inhibin INHB subunits. INHA along with Anti-mullerian hormone can be used as a diagnostic
marker for PCOS. This study has been conducted using data of fifty participants. They were classified into two groups,
control and experimental group. Out of total 50 participants, 30 were PCOS patients and 20 were healthy control
subjects. Blood samples of PCOS patients were collected from Pakistan Institute of Medical Sciences. Extracted DNA
from blood was used for amplification of exon 2 of INHA subunit of Inhibin A and B gene. Restriction digestion of Amplified
gene segment was carried out with restriction endonuclease. Restriction fragment length polymorphism (RFLP) results
showed 30% (p 0.0178) of PCOS patients having heterozygous mutation (G769A/ rs12720062). Results revealed
positive risk of developing PCOS when having A allele at position 769bp in heterozygous state. So, we concluded that
there is an association between heterozygosity at rs12720062 and risk of development of PCOS.