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Date Published: 20/07/2021
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DOI: https://doi.org/10.51298/vmj.v501i1.441
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Vol. 501 No. 1 (2021)
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Các bài báo
How to Cite
Vân Khánh, T. ., Huy Thịnh, T. ., Thị Thu Hương, N. ., & Chí Dũng, V. . (2021). IDENTIFICATION OF POINT MUTATION IN THE CYP21A2 GENE IN CONGENITAL ADRENAL HYPERPLASIA USING SEQUENCING METHOD. Vietnam Medical Journal, 501(1). https://doi.org/10.51298/vmj.v501i1.441

IDENTIFICATION OF POINT MUTATION IN THE CYP21A2 GENE IN CONGENITAL ADRENAL HYPERPLASIA USING SEQUENCING METHOD

Trần Vân Khánh, Trần Huy Thịnh, Ngô Thị Thu Hương, Vũ Chí Dũng

Main Article Content

Abstract

Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase is an autosomal recessive disorder commonly caused by mutations in the CYP21A2 gene. Point mutation is the most common mutation in CAH (about 60%) and identifying point mutation requires the use of gene sequencing. The study was conducted with the aim of identifying point mutations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency using sequencing method. METHODS: 50 patients were diagnosed with 21-hydroxylase-deficient hypercholesterolemia was analyzed by gene sequencing. Results: 32/50 point mutation (64%) of patients, including 62.5% homozygous mutation and 37.5% heterozygous. Salt wasting accounted for 53% of patients, simple virilizing accounted for 38% and non-classical accounted for 9%. The most common genotypes were I2g/I2g (31.3%), I2g/p.I172N (18.7%), remaining genotypes are ranging from 3.1-15.6%.

Article Details

Keywords

Congenital Adrenal Hyperplasia, CYP21A2 point mutation, gene sequencing

References

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