In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.
AUTOR(ES)
Rumsby, G
RESUMO
A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1017256Documentos Relacionados
- Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
- Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
- Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.
- P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.
- Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.