© 1992 Oxford University Press
OTHER |
Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy
GENETHON, 1 rue de I'Internationale B.P. 59, 91002 Evry Cedex 1Unité de Recherches INSERM U 301, 27 Rue Juliette Dodu, 75010, Paris 2Centre d'Etude du Polymorphisme Humain 27 Rue Juliette Dodu, 75010, Paris, France
* To whom correspondence should be addressed
Received July 14, 1992; Revised September 10, 1992; Accepted September 10, 1992
Limb-Girdle Muscular Dystrophy (LGMD) is a myopathy with clinical and transmission heterogeneity. The recessive form, LGMD2, has been recently mapped by linkage analysis to 15q (1). As an attempt to identify the gene involved in this pathology, we tested as candidate gene the LD locus, called LD for limb deformity. This gene has recently been identified and mapped to chromosome 15q13–q14. It is homologous to the murine formin gene which is localized to mouse chromosome 2. Mutations in this murine gene have been shown to cause limb deformity and kidney defect. YAC clones containing the LD gene were isolated and utilised to confirm the cytogenetic localisation. Internal DNA polymorphisms of the LD locus were analyzed in LGMD2 and CEPH families. The LD gene was mapped between the alpha cardiac actin gene and the D15S24 locus. Crossovers between the LGMD2 and the LD loci excluded the LD gene as a candidate for LGMD2.