HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl-Oxidase Deficiency
| Autor: | Shoshana Smaller, Joseph Sack, Bo Dupont, Ariel Rösler, Tirza Cohen, Chaim Brautbar, C. Levene, R. Sharon, Lenore S. Levine, Rachel Theodor |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Genetic Linkage Immunology Genes Recessive Human leukocyte antigen Haploidy Biology Biochemistry Mixed Function Oxygenases law.invention Consanguinity chemistry.chemical_compound HLA Antigens law Internal medicine Genetics medicine Cytochrome P-450 CYP11B2 Humans Immunology and Allergy Aldosterone Gene Lod score Histocompatibility Testing Haplotype General Medicine Phenotype Pedigree Endocrinology chemistry Recombinant DNA Female Corticosterone Methyl Oxidase Deficiency Oxidoreductases Metabolism Inborn Errors |
| Zdroj: | Tissue Antigens. 17:212-216 |
| ISSN: | 1399-0039 0001-2815 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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