[The use of DNA analysis for diagnostics of hereditary premature ovarian failure].
Methods of DNA-analysis of 769G --> A mutations in INHalpha1 gene and CGG-repeats polymorphism in FMRI 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 2.8%. Results of analysis of CGG-repeats numbers in FMRI gene in the group of 215 women (oocyte donors) revealed five persons with CGG-repeats numbers, that exceeds the normal one (42 copies). Thus the frequency of persons with allels with high risk of premutation in FMRI gene is 2.3%. The results of our research confirm the actuality of genetic tests of mutations in INHalpha1 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.
Livshyts'
H B
HB
Kravchenko
S A
SA
Hryshchenko
N V
NV
Sudoma
I A
IA
D004247:DNA / Q000032:analysis*; D004252:DNA Mutational Analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007265:Inhibins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D007265:Inhibins; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human; C094377:inhibin-alpha subunit