Abstract
The genetic organization of the 21-OHase (P450c21) complex in CAH is well characterized, but the literature studies vary depending on the population. This study was carried out to determine the genic alterations of the P450c21 complex in brazilian families. During 6 months, 12 families were analyzed with 15 affected individuals with classic 21-OHase deficiency. Blood samples of all family members were tested for hibridization on conventional Southern blot with TaqI digests of DNA with gene probes for P450c21 and C4. Among the 15 affected individuals (9F:6M, with positive family history and consanguinity in 5/12), 8 had the simple virilizing and 7 had the salt-wasting form. The most frequent genic alteration was the point mutation of the 21B gene with normal 21A gene (50%), a result similar to those of the literature. The absence of deletion of the 21B gene and the finding of 30% of convertion in 21B gene indicate the necessity of new studies with more patients.
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Guerra, G., Mello, M., Farah, S. et al. 2 CLINICAL AND GENETICAL CHARACTERISTICS IN CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO. 21-HYDROXYLASE DEFICIENCY. PRELIMINARY DATA IN 12 BRAZILIAN FAMILIES. Pediatr Res 36, 678 (1994). https://doi.org/10.1203/00006450-199411000-00060
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DOI: https://doi.org/10.1203/00006450-199411000-00060
