Is transferrin normal in idiopathic haemochromatosis?
Family studies were done to ascertain whether there is linkage between the transferrin locus and the HLA loci on chromosome 6. The findings in four families in which there was variation at the transferrin locus did not demonstrate any linkage, with 17 of the 30 offspring of heterozygous parents being recombinants and 13 non-recombinants. These results indicate that the HLA linked defect responsible for increased iron absorption in idiopathic haemochromatosis is not a consequence of any abnormality in the primary structure of transferrin.
D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D014168:Transferrin / Q000235:genetics*
D006680:HLA Antigens; D014168:Transferrin