Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
| Autor: | Marie-Charles Raux-Demay, Joelle Boué, Any Bogyo, Benoit Barbat, Frédéarique Kuttenn, André Boué, Brigitte Simon-Bouy, Etienne Mornet, Jean-Louis Serre |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Steroid 21-Hydroxylase Molecular Sequence Data Biology medicine.disease_cause Exon Internal medicine Genotype Genetics medicine Humans Congenital adrenal hyperplasia Gene Alleles Genetics (clinical) Mutation Adrenal Hyperplasia Congenital Base Sequence Nucleic Acid Hybridization Chromosome medicine.disease Phenotype Pedigree Blotting Southern Meiosis Endocrinology Female France |
| Zdroj: | Human Mutation. 5:126-130 |
| ISSN: | 1098-1004 1059-7794 |
| Popis: | The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutations were a C-G substitution in intron 2, the deletion of the CYP21 gene and a T-A substitution in exon 4 in the severe form of the disease, and a G-T substitution in exon 7 in the nonclassic form. The correlation between the genotypes and the clinical forms of the disease showed marked variation in the phenotype from a single genotype, suggesting that individual variation and undetected additional mutations on the same CAH chromosome accounted for the phenotype. In 65 informative meioses of CAH families, no de novo mutation was found. © Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text