Viviane C. Campos
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Viviane C. Campos has a total of 4 co-authors. Here are the top co-authors by number of shared publications:
Manuel H. Aguiar-Oliveira
Federal University of Sergipe, Brazil
1 shared publication- Margaret de Castro
Department of Internal Medicine, Ribeirao Preto Medical School—University of Sao Paulo , Ribeirão Preto, SP 14049-900
1 shared publication - Natália Torres
Department of Education and Social Sciences, Facultad de Educación, Universidad Andrés Bello, Las Condes, Santiago, Chile
1 shared publication Rossana M. C. Pereira
Federal University of Sergipe, Brazil
1 shared publication
Latest Publications
- Open Access
- 1 February 2009
- Published by FapUNIFESP (SciELO) in Archives of Endocrinology and Metabolism
- Vol. 53 (1) , 40-46
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil
OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the classical forms and in 5 patients with the nonclassical (NC) form of CAH-21OH and correlate genotype with phenotype. METHODS: Genotypes were classified into 3 mutation groups (A, B and C), based on the degree of enzymatic activity. Screening for 7 microconversions by allele-specific PCR diagnosed 74.3% (n=26) of the 35 unrelated alleles. RESULTS: The most frequent mutations were Q318X (25.7%), V281L (17.1%), I2 Splice (14.3%), I172N (14.3%), and R356W (14.3%). Genotype was identified in 57.1% of the patients. We observed correlation between genotype and phenotype in 91.7% of the cases. CONCLUSION: The highest frequency for Q318X (25.7%) when compared to other studies may reflect individual sample variations in this Northeastern population.
- 1 February 2009
- Published by FapUNIFESP (SciELO) in Archives of Endocrinology and Metabolism
- Vol. 53 (1) , 40-46
Open AccessHigh frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil
OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the classical forms and in 5 patients with the nonclassical (NC) form of CAH-21OH and correlate genotype with phenotype. METHODS: Genotypes were classified into 3 mutation groups (A, B and C), based on the degree of enzymatic activity. Screening for 7 microconversions by allele-specific PCR diagnosed 74.3% (n=26) of the 35 unrelated alleles. RESULTS: The most frequent mutations were Q318X (25.7%), V281L (17.1%), I2 Splice (14.3%), I172N (14.3%), and R356W (14.3%). Genotype was identified in 57.1% of the patients. We observed correlation between genotype and phenotype in 91.7% of the cases. CONCLUSION: The highest frequency for Q318X (25.7%) when compared to other studies may reflect individual sample variations in this Northeastern population.