Article
Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2006
Concolino Paola, Satta Maria Antonia, Santonocito Concetta, Carrozza Cinzia, Rocchetti Sandro, Ameglio Franco, Giardina Emiliano, Zuppi Cecilia, Capoluongo Ettore
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a genetic disorder due to 21-hydroxylase deficiency. More than 90% of CAH cases are caused by mutations of CYP21B gene, most of which are the result of microconversion events between the functional gene and its pseudogene. Using a combination of RFLP and direct sequencing analysis, in this paper we describe the genetic study of a Sardinian family carrying I172N mutation in...
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Base Sequence
- DNA
- DNA Mutational Analysis
- Female
- Humans
- Loss of Heterozygosity
- Male