Article
Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca.
Clinical genetics - 1 Aug 2000
Guix P, Picornell A, Parera M, Tomás C, Muncunill J, Castro J A, Rossell J, Vaquer P, Ramon M M, Obrador A
Abstract excerpt
The C282Y mutation of the HFE gene has been reported to be present in most of the patients with hereditary haemochromatosis (HH) of Northern European ancestry. HH affects approximately 1/300 individuals, but it is not evenly distributed in the different European countries. In the present study, polymerase chain reaction (PCR) and restriction-enzyme digestion were used to analyse the frequency of the most...
Topics
- Adult
- Cysteine
- DNA Primers
- Female
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Heterozygote
- Histocompatibility Antigens Class I
- Homozygote
- Humans
- Male
- Membrane Proteins
- Mutation
- Polymerase Chain Reaction