CHARACTERIZATION OF INHIBIN GENE IN PATIENTSOF POLYCYSTICOVARYSYDROME
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Author:
FARKHANDA HAROON
Citable URI :
https://vspace.vu.edu.pk/detail.aspx?id=390
Publisher :
Virtual University
Date Issued:
7/7/2020 12:00:00 AM
Abstract
Polycystic ovary syndrome (PCOS) is multisymptomatic 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. 60-70% of PCOS patients suffer from
hyperandrogenism i.e. high level of follicle stimulating hormone (FSH) & luteinizing
hormone (LH). While LH/FSH ratio elevates in PCOS patients.
Inhibin A downregulates the follicle stimulating hormone (FSH) to promote ovulation
and regulate normal menstrual cycle. Inhibin A is a hetero dimer of INHA and INHB subunits.
INHA along with Antimullerian hormone can be used as a diagnostic marker for PCOS.
This study has been conducted using data of 50 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% 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.
URI :
https://vspace.vu.edu.pk/details.aspx?id=390
Citation:
Haroon,F(2019).CHARACTERIZATION OF INHIBIN GENE IN PATIENTSOF POLYCYSTICOVARYSYDROME. Virtual University of Pakistan(Lahore, Pakistan)
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Final Version
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