Mutational analysis of CYP11 Al and Leptin as genetic determinants of hyperandrogenicity and obesity in PCOS: Study in an Indian Cohort Group

摘要

Polycystic ovary syndrome (PCOS) is now largely recognized to be a condition of unexplained hyperandrogenic chronic anovulation with a genetic basis Present study has been carried out with the specific aim of determining genetic markers and susceptibility loci associated with two of its important features viz hyperandrogenicity and obesity Reproductive age women (? = 30) with oligomenorrhea/chionic anovulation and hirsutism, with/without obesity were recruited PCOS was confirmed in them through ultrasound First degree relatives of some of the probands (n=10) were also recruited Obese (BMI>30) and non-obese control groups were included for comparison Mutations in exons 3, 4 and 9 of CYP11A1 and exons 2 and 3 of Leptin were screened by PCR-SSCP A microsatellite (tttta),, polymorphism in promoter region of CYP11A1 was also analysed. All indicated variations were confirmed by nucleotide sequencing Exons 3, 4 and 9 of CYP11A1 did not show any variations in either probands or their family members,. With regard to Leptin, some variants were detected in exons 2 and 3 in obese control subjects rather than in PCOS Trend in the microsatellite repeat polymorphism showed marked differences compared to the Western population. Six repeat allele of the pentanucleotide was predominant in both control and PCOS subjects compared to the four repeat allele.