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Diffusion of a particular 4.1(−) hereditary elliptocytosis allele in the French northern Alps

Published online by Cambridge University Press:  31 July 2008

G. Brunet ,
M. T. Ducluzeau ,
L. Roda ,
P. Lefrancois ,
F. Baklouti ,
J. Delaunay  and
J. M. Robert
G. Brunet
Affiliation:
Départment de Démographie et Génétique, Institut Européen des Génomutations
M. T. Ducluzeau
Affiliation:
CNRS URA 1171, Faculté de Médecìne Grange-Blanche, Lyon, and Institut Pasteur de Lyon
L. Roda
Affiliation:
Laboratoire d'Hématologie, Centre Hospitalier d'Annecy
P. Lefrancois
Affiliation:
Protection Maternelle et Infantile, Conseil Général de la Haute-Savoie, France
F. Baklouti
Affiliation:
CNRS URA 1171, Faculté de Médecìne Grange-Blanche, Lyon, and Institut Pasteur de Lyon
J. Delaunay
Affiliation:
CNRS URA 1171, Faculté de Médecìne Grange-Blanche, Lyon, and Institut Pasteur de Lyon
J. M. Robert
Affiliation:
Départment de Démographie et Génétique, Institut Européen des Génomutations
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Summary

Heterozygous 4.1(−) hereditary elliptocytosis results from the absence of one haploid set of protein 4.1, a major component of the red cell skeleton. Two successive epidemiological investigations revealed fifteen probands in the French Northern Alps. The frequency of this disease seems to be very high in four small villages isolated in the Aravis mountains. The genealogical study shows that eleven probands share common ancestors who lived eight or ten generations ago in these villages. Thus there was probably a founder effect from one pair of ancestors, strengthened by endogamy. In contrast, four probands originate from another area and are not genealogically related. Recent results in molecular genetics support the present data.

Type
Research Article
Information
Journal of Biosocial Science , Volume 25 , Issue 2 , April 1993 , pp. 239 - 247
Copyright
Copyright © Cambridge University Press 1993

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