Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy

Details

Serval ID
serval:BIB_D0E125CCDEC8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy
Journal
Human Molecular Genetics
Author(s)
Richard  I., Broux  O., Hillaire  D., Cherif  D., Fougerousse  F., Cohen  D., Beckmann  J. S.
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
11/1992
Volume
1
Number
8
Pages
621-4
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Nov
Abstract
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. 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.
Keywords
Base Sequence Chromosome Mapping *Chromosomes, Human, Pair 15 DNA, Single-Stranded Female Fetal Proteins/*genetics *Genes, Recessive Humans Linkage (Genetics) Male Microfilament Proteins Molecular Sequence Data Muscular Dystrophies/*genetics *Nuclear Proteins Pedigree Polymorphism, Restriction Fragment Length
Pubmed
Web of science
Create date
25/01/2008 16:18
Last modification date
20/08/2019 15:51
Usage data