Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval

Journal Article · Thu Jun 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:91194

Allamand, V; Broux, O; Richard, I ^[1]

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1. CNRS URA, Evry (France); and others

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 Reunion 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 Reunion 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. 40 refs., 4 figs., 4 tabs.

• OSTI ID: 91194
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CONTIGS
GENE MUTATIONS
GENE RECOMBINATION
GENES
GENETIC MAPPING
GENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 15
PATIENTS
POLYMERASE CHAIN REACTION
SKELETAL DISEASES
STATISTICS
YEASTS