Mutation analysis of the inhibin alpha gene by restriction fragment lenght polymorphism tecnique in Çukurova region affected by premature menopause

ABSTRACTMUTATION ANALYSIS OF THE INHIBIN ALPHA GENE BYRESTRICTION FRAGMENT LENGHT POLYMORPHISM TECNIQUE INÇUKUROVA REGION AFFECTED BY PREMATURE MENOPAUSEThe loss of functional follicles occurring in women under the age of40 years is defined as premature menopause. It is a common conditionthat occurs in 1% of all women, and in 0.1% of women before the age of 30years. Two significant consequences of premature menopause are theloss of fertility, and the clinical effects of hypo-oestrogenism.The glycoprotein, inhibin, is a potential candidate for prematuremenopause due to its role in negative feedback control of FSH, which hasa pivotal role in the recruitment and development of ovarian folliclesduring folliculogenesis. nhibin is structurally related to the transforminggrowth factor (TGF)- β super family. There are two forms of inhibin;inhibin A (α-βA), and inhibin B (α-βB). The inhibin subunits are encodedby three separate genes: INH α, INHβA and INHβB.The main function of inhibin in women is its regulation of pituitaryFSH secretion. A functional mutation in any of the inhibin genes wouldlead to a decrease in the amount of bioactive inhibin. This loss wouldresult in an increase in the concentrations of FSH by removing thenegative feedback to the pituitary, leading to premature depletion offollicles, and hence result in premature menopause.In this study we aimed to investigate the effects of 769 G Amissense mutation of INH alfa gene. The result of this mutation the codon257 alters from GCT to ACT and the amino acid from alanine by threonineon premature menopause patients in Adana. PCR/RFLP was used toidentify the presence of the INH α 769. G A variant. The RFLP analysisfrom the DNA samples of the 28 premature menopause patients and 9normal fertile individuals showed no variation.xiiKey Words: nhibin, Premature Menopause, mutation, FSH.xiii