Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families
| Autor: | David L. Duffy, Richard D. Gordon, A. So, Chiara Bertello, Franco Veglio, Y. Jeske, Livia Kelemen, Norlela Sukor, Michael Stowasser, Paolo Mulatero |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Genetic Markers Male Familial hyperaldosteronism Adolescent Physiology Primary aldosteronism Genetic linkage Hyperaldosteronism Internal Medicine medicine familial hyperaldosteronism Humans genetic hypertension aldosterone Aged Chromosome 7 (human) Genetics Aged 80 and over Family Health business.industry Haplotype Australia Middle Aged South America medicine.disease Glucocorticoid remediable aldosteronism Pedigree Phenotype Haplotypes Italy Genetic marker Female Lod Score Cardiology and Cardiovascular Medicine business Chromosomes Human Pair 7 |
| Zdroj: | Journal of hypertension. 26(8) |
| ISSN: | 0263-6352 |
| Popis: | Familial hyperaldosteronism type II is a hereditary form of primary aldosteronism not attributable to the hybrid CYP11B1/CYP11B2 mutation that causes glucocorticoid remediable aldosteronism (or familial hyperaldosteronism type I). Although genetic defect(s) underlying familial hyperaldosteronism type II have not yet been elucidated, linkage to chromosome 7p22 was previously reported in two Australian families and a South American family with familial hyperaldosteronism type II.To seek evidence of linkage to chromosome 7p22 in two Italian families with familial hyperaldosteronism type II based on markers that have already yielded evidence of linkage in one South American and two Australian familial hyperaldosteronism type II families and to assess the combined multipoint logarithm of odds score in these five families (two Australian, two Italian, and one South American).Primary aldosteronism was diagnosed or excluded using widely accepted clinical and biochemical criteria. Genotypes of affected and unaffected Italian patients from two families were analysed using seven closely spaced microsatellite markers at 7p22, and multipoint logarithm of odds scores were calculated to assess linkage with familial hyperaldosteronism type II.All known affected individuals (four and two, respectively) from each of two Italian families shared identical haplotypes for the seven markers, consistent with linkage of the disease locus with the 7p22 region. The combined multipoint logarithm of odds score for five families showing linkage at 7p22 was highly significant at 5.22 (theta = 0) for markers D7S462 and D7S517.Linkage in two Italian families makes this the third geographical area to show linkage of familial hyperaldosteronism type II at 7p22, emphasizing the likely importance of this locus in identifying the causative mutation. |
| Databáze: | OpenAIRE |
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