Molecular characterization of 21-hydroxylase deficiency in 70 italian families

Paola Carrera, M. Ferrari, F. Beccaro, I. Spiga, M. Zanussi, F. Rigon, F. Braggion, F. Zacchello, N. Greggio

Research output: Contribution to journalArticlepeer-review


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 pscudogene and the linked C4A, C4B and DRB genes, mapping within the major histocompatibility complex region, were studied by multiple restriction analysis and in vitro amplifica-tion. In the affected individuals, 21.4% of the chromosomes were found to carry cither gene deletions or large and small gene conversions. Our findings, consistent with previous re-ports in other ethnic groups, provide further evidence for the genetic heterogeneity of the disease.

Original languageEnglish
Pages (from-to)190-196
Number of pages7
JournalHuman Heredity
Issue number3
Publication statusPublished - 1993


  • 21-Hydroxylase deficiency
  • Deletion
  • Duplication
  • Gene conversion
  • Italian patients
  • Multiple restriction analysis
  • Polymerase chain reaction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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