Мethods of DNA-analysis of 769G®A mutations in INHα1 gene and CGG-repeat polymorphism in FMR1 gene have been developed for creating test-systems for genetically caused forms of premature ovarian failure (POF) diagnostics. The frequency of 769G®A mutation among women population in Ukraine was established and by preliminary calculations makes up 5,6 %. Results of analysis of CGG – epeat numbers in FMR1 gene in a group of 215 women (oocyte donors) revealed five persons with CGG-repeat numbers, that exceeds the normal one (42 copies). Thus the frequency of persons with allels with high risk of premutation in FMR1 gene is 2,3 %. The results of our research confirm the actuality of genetic tests of mutations in INHα1 and FMR1 genes among the women of reproductive age with the purpose of POF prognosis and prevention the birth of children with fragile X syndrome.
Keywords:
