电邮这篇文章 CYP21A2 gene mutationsin the women with recurrent miscarriage
- 作者: Osinovskaya N.S.1, Sultanov I.Y.1, Ivaschenko T.E.1, Baranov V.S.2
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隶属关系:
- Laboratory of prenatal diagnostics of congenial and hereditary diseases
- D. O. Ott Research Institute of Obstetrics and Gynecology NWB RAMS
- 期: 卷 61, 编号 3 (2012)
- 页面: 104-108
- 栏目: Articles
- URL: https://ogarev-online.ru/jowd/article/view/1293
- DOI: https://doi.org/10.17816/JOWD613104-108
- ID: 1293
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Miscarriage is one of the major problems of modern reproduction. Total frequency of micarrieges is estimated as 15–27 % of total pregnancies. Recurrent Miscarriage (RM) (three or more spontaneous abortions) is responsible for almost 20 % of total miscarrieges. The population frequency of RM fluctuates from 2 % to 5 %. One of the important causes of abortion in the first trimester are hormonal disturbances in the mother, including adrenal hyperandrogenism, which results in congenital adrenal hyperplasia (CAH). In 95 % of cases, this pathology is caused by mutations in the 21-hydroxylase gene (CYP21A2), encoding for 21-hydroxylase. A non-classical form of CAH is the leading factor in 30 % of RM in women with hyperandrogenia. The aim of this study was to investigate the role of the most common mutations in the CYP21A2 gene in women with RM for more accurate diagnosis of this pathology. The level of 17-OH-progesterone was measured in women with RM and with mutations in the gene CYP21A2. The frequency of mutations in the CYP21A2 gene in RM women was significantly higher than in the group of women who don’t have these mutations (14.4 ± 3.3 % and 2 ± 1.4 %, respectively, p <0,05 df = 1). According to the odds ratio the risk of RM in CYP21A2 mutations carriers is 8 times higher than in the women without these mutations (OR = 8.4 (1.9–37.6)). The level of 17-OH-progesterone is not associated with mutations in CYP21A2 gene in the women with RM
作者简介
Natalya Osinovskaya
Laboratory of prenatal diagnostics of congenial and hereditary diseases
Email: natosinovskaya@mail.ru
PhD, senior research fellow
Iskender Sultanov
Laboratory of prenatal diagnostics of congenial and hereditary diseasesassistant
Tatyana Ivaschenko
Laboratory of prenatal diagnostics of congenial and hereditary diseasesDr. Sci, Prof., Leading Researcher
Vladislav Baranov
D. O. Ott Research Institute of Obstetrics and Gynecology NWB RAMSDr. Sci, Prof., Corresponding Member of RAMN, head of the laboratory of prenatal diagnostics of congenial and hereditary diseases
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