Linkage and segregation analysis of HLA and congenital hypoaldosteronism due to corticosterone methyl-oxydase deficiency type I and type II

B. M. De Jongh, Johannes D Veldhuis, S. L S Drop

Research output: Contribution to journalArticlepeer-review

Abstract

To determine the genetic relations between HLA and deficiencies of steroidogenic enzymes other than 21-hydroxylase, we investigated HLA and congential hypoaldosteronism in two families with corticosterone methyl-oxidase type 2 (CMO2) and one family with type 1 (CMO1) deficiency, respectively. Apart from a first documentation of HLA in CMO1 deficiency, our results, combined with those reported previously, excluded close linkage of HLA and CMO2 deficiency. However, loose linkage could not be encluded and the segregation of HLA haplotypes in sibships with CMO2 deficiency deviated significantly from random segregation. We suggest that HLA and CMO2 deficiency may not be independent.

Original languageEnglish (US)
Pages (from-to)18-24
Number of pages7
JournalTissue Antigens
Volume24
Issue number1
StatePublished - 1984
Externally publishedYes

ASJC Scopus subject areas

  • Cell Biology
  • Immunology

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