Prevalence of polymorphic 21-hydroxylase gene (Ca21HB) mutations in salt-losing congenital adrenal hyperplasia

Nicholas Jospe, Patricia A. Donohoue, Cornelis Van Dop, Robert H. McLean, Wilma B. Bias, Claude J. Migeon

Research output: Contribution to journalArticle

Abstract

Using genomic restriction analysis of 14 unrelated patients with salt-losing congenital adrenal hyperplasia, we identified three different CA21HB mutation patterns: 1) no detectable restriction fragment abnormalities ( 16 28 haplotypes), 2) deletion of the active CA21HB gene ( 9 28), and 3) apparent conversion of the active CA21HB gene to the pseudogene CA21HA ( 3 28). CA21HB gene deletion was associated with HLA-Bw47 in 6 haplotypes and with absent C4B expression in 7. A variety of HLA and C4 types was associated with the other mutations. Apparent conversion of CA21HB to CA21HA was identified by the disparity between the intensity ratios for the major TaqI and BglII hybridization fragments.

Original languageEnglish (US)
Pages (from-to)798-804
Number of pages7
JournalBiochemical and Biophysical Research Communications
Volume142
Issue number3
DOIs
StatePublished - Feb 13 1987

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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