Molecular Study of Insulin Resistance and Polycystic Ovary Syndrome

Abstract

This study explores on the relationship between the polycystic ovary syndrome (PCOS) and insulin resistance which caused by variation in the 5-prime flanking region of the insulin gene, a variable number of tandem repeat (VNTR) regulates transcription of the gene.The study includes 50 Iraqi women with polycystic ovary syndrome (PCOS) and 25 healthy women, Blood samples were collected from the the Medical City hospital, Kamal al-Samarrai Hospital and private medical laboratories (in Baghdad), during the period from November, 2011 to May, 2012. The age of infertile and fertile women was ranged from 16 to 45 years.The molecular study was focused on the 42% of PCOS women with insulin resistance. By sequencing for 50 samples, one separate segment (INS-VNTR) containing nucleotide 360 of insulin gene was amplified by using specific primer..The result of sequencing refers to a number of mutations found in women with PCOS (substitution = 69.86% , deletion =10.95% and insertion =19.17% ) . Some of mutations were repeated in a number of patients with the same type and locations. The results showed 9.52% of patients having deletion in adenine in 388 position (TAC/ T_C) , 9.52% of patients having deletion in adenine in 681 position (CCA/ CC_) , 9.52% of patients having insertion adenine in 638 position (GCT/ GACT) , 9.52% of patients having Missense mutation in 447 position (GAG/ AAG) , 9.52% of patients having Missense mutation in 84 position (CAG/ AAG) and 9.52% of patients having silent mutation in 88 position (GGG/ GGT).The results showed 14.28% of patients having Missense mutation in 455 position (GGG/ AGG) , 14.28% of patients having Missense mutation in 434 position (CCA/ TCA) and 14.28% of patients having silent mutation in 639 position (CGG / CGT) .The results showed 19.04% of patients having insertion in thymine in 94 position (CTG/ CTTG). Also compound mutations have been detected among most of PCOS with insulin resistance.