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APPLICATION OF MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA) IN DETECTING DELETION/DUPLICATION OF CYP21A2 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. Approximately 20-25% of patients with CAH carry mutations in copy number alterations such as deletions, duplications, or inversions of the CYP21A2 gene. The study was carried out with the aim of evaluating the CYP21A2 gene deletions using MLPA technique. 30 patients were diagnosed with congenital adrenal hyperplasia with 21- hydroxylase deficiency were collected; DNA extracted from blood samples was carried out; MLPA technique was performed to identify deletion/ duplication genes. The results found that 6 patients (20%) with homozygous deletion and 6 patients (20%) with heterozygous deletion. Among homozygous deletion mutants, deletion from exon 1 to exon 3 accounts for the highest percentage (50%), second is deletion from exon 1 to exon 7 (33.3%) and the remaning is deletion from exon 4 to exon 7 (16.7%).
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References
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