Article
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Gene - 15 Jan 2013
Toraman Bayram, Ökten Ayşenur, Kalay Ersan, Karagüzel Gülay, Dinçer Tuba, Açıkgöz Emel Gül, Karagüzel Ahmet
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders characterized by impaired production of adrenal steroids. Approximately 95% of all CAH are caused by mutations of the CYP21A2 that encodes 21-hydroxylase. In this study, mutation analyses of CYP21A2 were performed in 48 CAH patients from 45 Turkish families with the clinical diagnosis of 21-hydroxylase deficiency (21OHD)....
Topics
- Adrenal Hyperplasia, Congenital
- Adult
- Chimera
- DNA Mutational Analysis
- Female
- Founder Effect
- Haplotypes
- Humans
- Male
- Mutation
- Polymorphism, Single Nucleotide