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pubmed:abstractText |
A rapid and convenient approach for the detection of the most common CYP21 gene mutations in patients with congenital adrenal hyperplasia (CAH) with classical forms of 21-hydroxylase deficiency was used. In addition, a new semiquantitative strategy for the detection of del8-bp was designed. These procedures were used for prenatal diagnosis and genotype-phenotype correlation in northeastern Iran. Design: Molecular analysis of the CYP21 gene for the detection of the 9 most common mutations (CYP21gene deletion, P30L, i2g, del-8bp, I172N, E6 cluster, V281L, Q318X and R356W) was performed on 30 CAH patients and for prenatal diagnosis in 2 cases.
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