Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis.
| Autor: | Burt MJ; Department of Gastroenterology, Christchurch Hospital., Upton JD, Morison IM, Chapman BA, Faed JM, George PM |
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| Jazyk: | angličtina |
| Zdroj: | The New Zealand medical journal [N Z Med J] 1997 Nov 28; Vol. 110 (1056), pp. 429-32. |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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