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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: Evidence for a few founder mutations
Human Genetics, Volume 111, No. 3, Year 2002
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Description
Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene (CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European Caucasian (WEC) and 47 North African (NA) ULDc. We analysed eight markers flanking CSTB (GT10-D21S1890-D21S1885-D21S2040-D21S1259-CSTB-D21S1912-PFKL-D21S171) and one intragenic variant in the CSTB 3′ UTR (A2575G). We observed a founder effect in most of the NA ULD patients, as 61.7% of the NA ULDc (29/47) shared the same haplotype, A1 (1-1-A-1-6-7), for markers D21S1885-D21S2040-A2575G-D21S1259-D21S1912-PFKL. Moreover, if we considered only the markers D21S1885, D21S2040, A2575G and D21S1259, 43 of the 47 NA ULDc shared the same alleles 1-1-A-1, haplotype A. As previously shown, the WEC ULDc were heterogeneous. However, the Baltic haplotype, A3 (5-1-1A-1-1), was observed in ten WEC ULDc (20.8%) and the CSTB 3′UTR variant, which we called the Alps variant, was observed in 17 ULDc (35.4%). Finally, as almost all NA patients, like Scandinavian patients, were of the haplotype A, we assumed that there was an ancient common founder effect in NA and Baltic ULD patients. We estimated that the putative most recent common ancestral ULD carrier with this haplotype A must have existed about 2,500 years ago (100-150 generations). Finally, this work provides evidence for the existence of only a small number of founder mutations in ULD. © Springer-Verlag 2002.
Authors & Co-Authors
Moulard, Bruno
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Genton, Pierre
France, Marseille
Centre Saint-paul Hôpital Henri Gastaut
Grid, Djamel
France, Evry
Généthon
Jeanpierre, M.
France, Paris
Hopital Cochin Ap-hp
Ouazzani, Réda M.
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Mrabet, A.
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Morris, Michael A.
Switzerland, Geneva
Université de Genève Faculté de Médecine
LeGuern, Éric
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Dravet, Charlotte
France, Marseille
Centre Saint-paul Hôpital Henri Gastaut
Mauguière, F.
France, Lyon
Hopital Neurologique et Neurochirurgical Pierre Wertheimer
Utermann, Barbara
Austria, Innsbruck
Inst. for Med. Biol. and Hum. Genet.
Baldy-Moulinier, Michel
France, Montpellier
Hopital Gui de Chauliac
Belaïdi, Halima
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Bertran, Françoise
France, Caen
Chu de Caen Normandie
Biraben, Arnaud
France, Rennes
Hôpital Pontchaillou
Chérif, André Ali
France, Marseille
Hopital la Timone
Chkili, Taïeb
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Crespel, Arielle
France, Montpellier
Hopital Gui de Chauliac
Darcel, F.
France, Lyon
Centre Hospitalier Lyon-sud
Dulac, Olivier J.
France, Paris
Hopital Saint-vincent-de-paul
Gény, Christian
France, Pau
Pau Hospital
Humbert-Claude, Véronique
France, Montpellier
Hôpital Saint Eloi
Kassiotis, Philippe
France, Vannes
Vannes Hospital
Burési, Catherine
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Malafosse, Alain
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Statistics
Citations: 26
Authors: 25
Affiliations: 19
Identifiers
Doi:
10.1007/s00439-002-0755-x
ISSN:
03406717
Research Areas
Genetics And Genomics
Study Locations
Multi-countries