Identification of mutations in the CYP19 gene in patients with polycystic ovary syndrome in Thi-Qar city

Abstract

This study was conducted to diagnose the possible relationship between genetic variations in the CYP19 gene with the progression of polycystic ovary disease in Thi- Qar city. This study included ten samples, and a genetic fragment with a length of 202 base pairs was amplified in the 3′ untranslatable region (3′UTR) of the CYP19 gene. These samples were subjected to experiments to determine the sequence from both directions of the amplified fragment. Sequence identification experiments found that there was one previously undiagnosed point mutation, g.27933770C>G, while these experiments found that there were two previously known point mutations, that is, previously discovered in the same amplified fragment, namely rs1201251894 and rs1163221780. Of the total of three-point mutations discovered, the current results indicate the presence of two of those point mutations observed in all the study samples, namely the new g.27933770C>G and the previously known rs1201251894, while the mutation rs1163221780 was observed in only three samples, which are samples No. 3 and 5 and 10. As a result, this observation may contribute to revealing a specific intervention of these discovered mutations, or one of them, in the development of polycystic ovary disease in Thi -Qar. This research is the first to describe the presence of an unprecedented point mutation distributed in all samples subject to sequencing experiments for the CYP19 genetic segment in all patients with polycystic ovary syndrome. This study recommends investigating the pattern and mechanisms of this unprecedented mutation in its possible relationship with polycystic ovary syndrome within this geographical region.