Molecular diagnosis of Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency in Cuban patients
Keywords:
mutations, Congenital Adrenal Hyperplasia, prenatal diagnosis, geneAbstract
Introduction: Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive genetic disease with a wide spectrum of clinical manifestations. This gene is located on the short arm of chromosome 6. Specific mutations in the gene give rise to a more or less severe loss of the enzymatic activity of the 21-hydroxylase enzyme, which, depending on its degree, can be correlated with the different clinical forms.
Objective: To carry out the molecular diagnosis of five of the mutations: P30L, Intron 2, del8bp, I172N and G318X.
Methods: The research was carried out in accordance with the ethical principles of the Declaration of Helsinki. DNA was extracted from peripheral blood and amniotic fluid samples of 270 cases. Subsequently, the CYP21B gene was amplified by PCR techniques in two overlapping fragments. From these, they were amplified the fragments containing the mutations under study.
Results: Of the 270 samples, 161 (60%) presented at least one of the studied mutations. It was identified Intron 2 mutation in 70 of the cases. They were identified the P30L and del8bp mutations in 34 and 33 cases respectively. They were identified the G318X mutation in 22 cases and the I172N mutation in 8 cases. It was identified in 36 of the cases the presence of more than one mutation, 147 cases were heterozygous and 36 compounds heterozygous. The most frequent mutation was Intron 2, followed by P30L, del8bp, G318X and I172N respectively. They were made 13 prenatal diagnoses, of which 2 were affected.
Conclusions: The direct analysis of the gene involved in the disease allows a more precise diagnosis, a better characterization of the patients and a more objective approach to treatment and the possibility of providing it in the prenatal period.
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