Molecular characterization of 21-hydroxylase deficiency in 70 Italian families

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...

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Bibliographic Details
Published inHuman heredity Vol. 43; no. 3; p. 190
Main Authors Carrera, P, Ferrari, M, Beccaro, F, Spiga, I, Zanussi, M, Rigon, F, Braggion, F, Zacchello, F, Greggio, N
Format Journal Article
LanguageEnglish
Published Switzerland 01.05.1993
Subjects
Adrenal Hyperplasia, Congenital - genetics
Amino Acid Sequence
Base Sequence
Blotting, Southern
Chromosome Deletion
DNA - analysis
Female
Gene Conversion
Gene Frequency
Genotype
Humans
Italy
Male
Molecular Sequence Data
Multigene Family
Phenotype
Pseudogenes
Restriction Mapping
Italy
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Summary: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 chromosomes were found to carry either gene deletions or large and small gene conversions. Our findings, consistent with previous reports in other ethnic groups, provide further evidence for the genetic heterogeneity of the disease.
ISSN:0001-5652
1423-0062
DOI:10.1159/000154176