HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl‐Oxidase Deficiency

Chaim Brautbar, Rachel Theodor, Joseph Sack, Cyril Levene, Bo Dupont, Lenore S. Levine, Raphael Sharon, Shoshana Smaller, Tirza Cohen, Ariel Rösler

Research output: Contribution to journalArticlepeer-review

Abstract

HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and parents were consanguineously related in eight out of nine sibships. Family analysis showed that 18 affected individuals carried 20 different haplotypes and only two patients were homozygous for a haplotype. Yet a peak lod score of 1.128 was obtained for the recombinant fraction of 0.05 and thus linkage to HLA cannot be ruled out.

Original languageEnglish
Pages (from-to)212-216
Number of pages5
JournalTissue Antigens
Volume17
Issue number2
DOIs
StatePublished - Feb 1981
Externally publishedYes

Fingerprint

Dive into the research topics of 'HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl‐Oxidase Deficiency'. Together they form a unique fingerprint.

Cite this