title: Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.
abstract: A gene for a recessive form of limb-girdle muscular dystrophy (LGMD2A) has been localized to chromosome 15. A physical map of the 7-cM candidate 15q15.1-q21.1 region has been constructed by means of a 10-12-Mb continuum of overlapping YAC clones. New microsatellite markers developed from these YACs were genotyped on large, consanguineous LGMD2A pedigrees from different origins. The identification of recombination events in these families allowed the restriction of the LGMD2A region to an estimated 1-cM interval, equivalent to approximately 3-4 Mb. Linkage disequilibrium data on genetic isolates from the island of Réunion and from the Amish community suggest a preferential location of the LGMD2A gene in the proximal part of this region. Analysis of the interrelated pedigrees from Réunion revealed the existence of at least six different carrier haplotypes. This allelic heterogeneity is incompatible with the presumed existence of a founder effect and suggests that multiple LGMD2A mutations may segregate in this population.
authors.affiliation: CNRS URA 1922, Généthon, Evry, France.
authors.forename: V
authors.initials: V
authors.lastname: Allamand
authors.forename: O
authors.initials: O
authors.lastname: Broux
authors.forename: I
authors.initials: I
authors.lastname: Richard
authors.forename: F
authors.initials: F
authors.lastname: Fougerousse
authors.forename: N
authors.initials: N
authors.lastname: Chiannilkulchai
authors.forename: N
authors.initials: N
authors.lastname: Bourg
authors.forename: L
authors.initials: L
authors.lastname: Brenguier
authors.forename: C
authors.initials: C
authors.lastname: Devaud
authors.forename: P
authors.initials: P
authors.lastname: Pasturaud
authors.forename: A
authors.initials: A
authors.lastname: Pereira de Souza
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003241:Consanguinity; D004276:DNA, Satellite; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D017508:Reunion / Q000453:epidemiology
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers