Article
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Molecular genetics and metabolism - 1 Aug 2000
Lee H H, de Wijs I J, Sistermans E A
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. For reliable and accurate mutation detection in the CYP21 gene it is important to separate the CYP21 gene from the highly homologous CYP21P pseudogene. For this, several different strategies have been developed. In the analysis of the common eight nucleotide deletion...
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