Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis.
N Z Med J
; 110(1056): 429-32, 1997 Nov 28.
Article
em En
| MEDLINE
| ID: mdl-9418837
AIM: To determine the frequency of HLA-H gene mutations in New Zealand patients with haemochromatosis. METHODS: The Cys282Tyr and His63Asp mutations in the HLA-H gene were analyzed by polymerase chain reaction, restriction enzyme digestion and electrophoresis in two separate patient groups. The first was a group of 20 Christchurch patients with a definite clinical diagnosis of haemochromatosis. The second group consisted of 33 patients, with a provisional diagnosis of haemochromatosis, attending Dunedin Hospital for therapeutic venesection. RESULTS: All 20 Christchurch patients and 25 of the 33 (76%) Dunedin patients were homozygous for the Cys282Tyr mutation. After review of the clinical data, histology and response to venesection a diagnosis of haemochromatosis could be confidently excluded in six of the remaining eight patients. Despite atypical features, a diagnosis of haemochromatosis could not be excluded in the final two patients, one of whom was a compound heterozygote for the two mutations. CONCLUSIONS: Homozygosity for the Cys282Tyr mutation is closely associated with haemochromatosis in New Zealand patients. Molecular analysis of the HLA-H gene is indicated in the assessment of patients with iron overload including those currently being treated by venesection.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Antígenos de Histocompatibilidade Classe I
/
Frequência do Gene
/
Hemocromatose
/
Antígenos HLA
/
Proteínas de Membrana
/
Mutação
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Oceania
Idioma:
En
Revista:
N Z Med J
Ano de publicação:
1997
Tipo de documento:
Article