Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene

The Journal of Clinical Endocrinology and Metabolism
C SkinnerJ W Honour

Abstract

The adrenal 11 beta-hydroxylase is a mitochondrial P450 enzyme encoded by the CYP11B1 gene, which is situated on chromosome 8q22 in tandem with the gene for aldosterone synthase (CYP11B2). Deficiency of 11 beta-hydroxylase results in the inability to convert 11-deoxycortisol to cortisol and accounts for 5-8% of cases of congenital adrenal hyperplasia. In the following study the CYP11B1 genes from eight individuals with 11 beta-hydroxylase deficiency were screened for mutations using single strand conformation polymorphism (SSCP) analysis. Sequence analysis of variant exons revealed a 28 bp deletion and a 5 bp duplication exon 2 and five missense mutations, G267R, G267D, Q356X, R427H and C494F, distributed throughout the gene. One of these mutations, G267R, and a G to A transversion at the third nucleotide position of codon 318 occur at the +1 position of the splice donor sites. Mutations were neither the result of gene conversion nor nonhomologous recombination between the two closely related CYP11B genes.

Citations

Jul 30, 2008·World Journal of Pediatrics : WJP·Li-Qiang ZhaoHao-Ming Tian
Jul 21, 2005·The Journal of Clinical Endocrinology and Metabolism·Tamar PapernaZe'ev Hochberg
Jun 6, 2003·The Journal of Clinical Endocrinology and Metabolism·Felicity M DunlopKathleen M Curnow

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