Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot

1994 ◽  
Vol 93 (4) ◽  
Author(s):  
PhyllisW. Speiser ◽  
PerrinC. White ◽  
Jacob Dupont ◽  
Deguang Zhu ◽  
ArleneB. Mercado ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Southern Blot ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Specific Hybridization ◽  
Allele Specific ◽  
21 Hydroxylase Deficiency

Pitfalls of Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia*

1985 ◽  
Vol 61 (1) ◽  
pp. 89-97 ◽  
Author(s):  
SONGYA PANG ◽  
MARILYN S. POLLACK ◽  
MAY LOO ◽  
ORVILLE GREEN ◽  
ROBERT NUSSBAUM ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Prenatal diagnosis of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

2015 ◽  
Vol 3 (5) ◽  
pp. 487-490
Author(s):  
Mabel Yau ◽  
Christian Pina ◽  
Ahmed Khattab ◽  
Ariella Barhen ◽  
Maria I New
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil

2009 ◽  
Vol 53 (1) ◽  
pp. 40-46 ◽  
Author(s):  
Viviane C. Campos ◽  
Rossana M. C. Pereira ◽  
Natália Torres ◽  
Margaret de Castro ◽  
Manuel H. Aguiar-Oliveira
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
High Frequency ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Specific Pcr ◽  
Frequent Mutations ◽  
Allele Specific ◽  
Activity Screening ◽  
21 Hydroxylase Deficiency ◽  
Allele Specific Pcr

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.

Pitfalls of Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

1985 ◽  
Vol 458 (1 Congenital Ad) ◽  
pp. 111-129 ◽  
Author(s):  
SONGYA PANG ◽  
MARILYN S. POLLACK ◽  
MAY LOO ◽  
ORVILLE GREEN ◽  
ROBERT NUSSBAUM ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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