Determination of polymorphisms related with adolescent girls by molecular diagnostic methods

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders among the women of reproductive age. Hyperandogenism and chronic anovulation are the key characteristics of subjects with PCOS. Insulin resistance, obesity and hirsutismus are the well-known phenotypic features associated with this disorder. On the other hand, it is the most leading cause of adult women infertility related with endocrinal reasons and an important risk factor for endometrial cancer, type 2 diabetes mellitus, hypertension and coronary heart disease. PCOS is a familial disorder stemming from the interaction of both genetic and environmental factors, and it appears to be heterogeneous due to the individual differences. The genetic basis and the mode of inheritance of it have not been clearly established yet. In this study, it has been aimed to investigate the prevelance and genetic susceptibility regarding three polymorphisms, that of Calpain 10 gene (SNP -44, -43, -19, -63), the insulin receptor gene (C/T SNP in exon 17) and plasminogen activator inhibitor 1 gene (4G/5G) among adolescent Turkish girls with PCOS. We have studied 44 adolescent girls with PCOS as well as the mothers of 4 subjects and a control group comprising 50 healthy girls. The genomic DNAs have been isolated from the whole blood by DNA extraction techniques and the samples have been genotyped by the PCR-RFLP method. In addition, DNA sequencing analysis has been applied to all samples in order to investigate possible appearance of a new polymorphism on exon 12 of insulin receptor gene. Since no statistically significant difference between subjects with PCOS and control group were found, we could conclude that there is no necessary association between the above mentioned polymorphisms and PCOS. The lack of such an association leads us to suggest that polymorphisms in these genes have no role in susceptibility to PCOS in Turkish population. Our study is the first one that investigates the association between Calpain 10 gene, insulin receptor gene, plasminogen activator inhibitor 1 gene and PCOS among Turkish adolescent girls. More studies on different polymorphic regions of suggested candidate genes and family based scannings of larger groups are needed for clearer identification of the genetic basis of PCOS in our country. Key words: Polycystic ovary syndrome, polymorphism, associate, Calpain 10 gene, insulin receptor gene, PAI 1 gene, candidate genes.