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

Bibliographic Data

ID24076017
AuthorsG Brunet (Université de Lyon), M T Ducluzeau (Centre National de la Recherche Scientifique), Laurent Roda (Centre Hospitalier Annecy Genevois), Pauline Lefrançois (0000-0002-0871-3959), Faouzi Baklouti (0000-0002-2830-292X, Centre National de la Recherche Scientifique), J Delaunay (0000-0002-6512-5483, Centre National de la Recherche Scientifique), Jacques Robert (0000-0003-4380-1476), J M Robert
Year1993
Volume25
Issue2
Pages239-247
Publication date1993-04-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueJournal of Biosocial Science (JOURNAL)
Journal identifiersISSN: 0021-9320 • E-ISSN: 1469-7599
PublisherCambridge University Press (CUP) (PUBLISHER)
DOI10.1017/s0021932000020526
PMID8478372
OpenAlexW1997471445
LanguageEN
Citations received1
References cited12

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.

Allele · Biology · Gene · Geography · Sociology · Demography · Erythrocyte Function and Pathophysiology · Genetics · Medicine · Platelet Disorders and Treatments · Renal Diseases and Glomerulopathies