Sàng lọc người mang đột biến gen SRD5A2 gây thiếu hụt 5-alpha reductase 2 trên thai phụ Việt Nam

To describe the percentage of people who carry the SRD5A2 gene mutation causing 5-alpha-reductase 2 deficiency and the characteristics of their mutated variants in Vietnamese pregnant women. Subjects and methods: A cross-sectional descriptive study was conducted on 8,464 pregnant women who visited and agreed to perform a screening test for gene carriers related to recessive genetic conditions at the Institute of DNA Technology and Genetic Analysis. All information about pregnant women including maternal age, gestational age, number of pregnancies and SRD5A2 gene mutation test results were collected. Results: Of 8,464 pregnant women participating in the study, 315 pregnant women (3.72%) carried pathogenic mutations on the SRD5A2 gene. The c.680G>A mutation (p.Arg227Gln) is the most common of the SRD5A2 gene mutations detected. Conclusion: The rate of pregnant women carrying SRD5A2 gene mutations is 3.72%, indicating the high prevalence of this gene mutation in Vietnamese pregnant women. In the future, it is necessary to expand and develop SRD5A2 gene mutation screening programs in Vietnamese pregnant women.