Genetic analysis of the steroid 21-hydroxylase gene following in vitro amplification of genomic DNA

• Published in: The Journal of steroid biochemistry and molecular biology Vol. 41; no. 3-8; p. 827
• Main Authors: Rumsby, G, Skinner, C, Honour, J W
• Format: Journal Article
• Language: English
• Published: England 01-03-1992
• Subjects: Adrenal Hyperplasia, Congenital - blood; Adrenal Hyperplasia, Congenital - enzymology; Adrenal Hyperplasia, Congenital - genetics; Base Sequence; Cloning, Molecular; DNA - genetics; DNA - isolation & purification; Exons; Genes; Humans; Molecular Sequence Data; Oligodeoxyribonucleotides; Polymerase Chain Reaction - methods; Steroid 21-Hydroxylase - genetics; TATA Box
• ISSN: 0960-0760
• DOI: 10.1016/0960-0760(92)90432-I

The 5' end of the steroid 21-hydroxylase B gene encompassing putative control regions and the first 3 exons, has been selectively amplified in vitro from a number of patients with congenital adrenal hyperplasia caused by a deficiency of this enzyme. Sequence analysis has revealed a number of isolated instances of gene conversion to the 21-hydroxylase A sequence. One mutation, a C to G transversion at the 3' end of the second intron, thought to lead to incorrect splicing of the mRNA, was found in 11 subjects all with the classical form of the disease.