Scientific article
English

Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal

Published inImmunogenetics, vol. 46, no. 3, p. 222-225
Publication date1997
Abstract

A Celtic origin for hemochromatosis, a common genetic iron metabolism disorder, has been postulated for a long time. To check whether the two mutations recently identified in the HLA-class I candidate gene for this disease were found only in Caucasians, we examined their frequencies in individuals originating from Algeria, Ethiopia, and Senegal. The presumably disease-causing mutation, responsible for the Cys282Tyr substitution, was not found in any member of these ethnic groups, although it was shown to be highly prevalent in populations of European ancestry. This geographic distribution supports the previously suggested Celtic origin for the disease. In contrast, the mutation responsible for the His63Asp substitution is not restricted to European populations. Although absent in the Senegalese, it was found on about 9% of the chromosomes of the Central Ethiopians and Algerians (Mzab) genotyped for this study. This second mutation, which probably represents a common variant unrelated to hemochromatosis, thus appears to have occurred earlier than that responsible for the Cys282Tyr substitution. More detailed population studies are needed to provide information on the age of these two mutations and eventually show how the hemochromatosis-causing mutation chronologically spread throughout Europe.

Keywords
  • Algeria
  • Ethiopia
  • Ethnic Groups
  • Hemochromatosis/genetics
  • Humans
  • Point Mutation
  • Senegal
Citation (ISO format)
ROTH, M. et al. Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. In: Immunogenetics, 1997, vol. 46, n° 3, p. 222–225. doi: 10.1007/s002510050265
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0093-7711
685views
2downloads

Technical informations

Creation26/01/2011 12:50:00
First validation26/01/2011 12:50:00
Update time14/03/2023 16:11:55
Status update14/03/2023 16:11:55
Last indexation29/10/2024 17:44:11
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack