Article
Molecular characterization of 21-hydroxylase deficiency in 70 Italian families.
Human heredity - 1 Jan 2000
Carrera P, Ferrari M, Beccaro F, Spiga I, Zanussi M, Rigon F, Braggion F, Zacchello F, Greggio N
Abstract excerpt
Seventy Italian families affected by 21-hydroxylase deficiency were studied in order to evaluate the distribution of mutations. The coding P450c21B gene, the highly homologous P450c21A pseudogene and the linked C4A, C4B and DRB genes, mapping within the major histocompatibility complex region, were studied by multiple restriction analysis and in vitro amplification. In the affected individuals, 21.4% of the...
Topics
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Chromosome Deletion
- DNA
- Female
- Gene Conversion
- Gene Frequency
- Genotype
- Humans
- Italy
- Male
- Molecular Sequence Data
- Multigene Family
- Phenotype
- Pseudogenes
- Restriction Mapping