Overview

Polycystic ovarian syndrome is a common condition affecting 5-10% of women of childbearing age. This disorder is probably the most common hormonal abnormality in women of reproductive age. In 95% of women with PCOS, an ultrasound of the ovaries will reveal cysts that can be seen on the surface of the ovary. Most of researchers found the evidence that INSR gene show consistent; linkage and association with PCOS. The INSR receptor gene comprises 22 exons spanning 120kb on chromosome 19. Mutations in exon 17 and intron 13, 8 that encode the tyrosine kinase domain of the insulin receptor. Mutations in exon 17 and intron 13, 8 that encode the tyrosine kinase domain of the insulin receptor, have been shown severe insulin resistance and hyperinsulinemia. Two possible approaches are used to identify a genetic locus for PCOS genes: (i) association studies where a predisposing allele is expected to be found more frequently in the affected population than the normal individuals and (ii) linkage studies where the probands and their families are investigated to determined if particular genomics landmarks are distributed independently or in linkage with the phenotype.

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9783659709937

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