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APPLICATION OF SANGER SEQUENCING TO DETECT CYP21A2 MUTATIONS CAUSING CONGENITAL ADRENAL HYPERPLASIA DISEASE
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Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by a deficiency of the enzyme 21-hydroxylase. The deficiency of the enzyme 21-hydroxylase occurs due to mutations in the CYP21A2 gene, of which about 60% of CAH patients carry point mutations in the CYP21A2 gene. The study was carried out with the aim of screening point mutations on CYP21A2 gene using Sanger sequencing technique. 30 patients were diagnosed with congenital adrenal hyperplasia with 21- hydroxylase deficiency was collected; DNA extracted from blood samples was carried out; PCR and Sanger sequencing was performed to identify mutations. Results: 11 patients carry genetic mutations that cause CAH were found, including 10 patients with the salt-wasting phenotype and 1 patient with the simple virilization phenotype. The most common mutation is I2G (16.7%), followed by p.R356W (5%) and p.R426C (5%), the remaining mutations range from 1.7% - 3%.
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Keywords
Congenital adrenal hyperplasia, CYP21A2, point mutation, Sanger sequencing
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