Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

Abstract

The clinical similarity with the X-linked muscular dystrophies and the uniqueness of the homology between the DMD-like and the 1.8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might be a strong candidate for one of the autosomal recessive muscular dystrophies. Thus, we tested, through linkage analysis, if 6q probes flanking the dystrophin-homologous sequence are linked to the gene responsible for limb-girdle dystrophy (LGMD). A total of 226 individuals (57 patients and 169 unaffected relatives) from 19 large unrelated Brazilian families was studied. Results of two-point analysis excluded linkage with MYB (6q22-23) and ESR (6q24-q27) at 8 = 0.10 and with TCP1 (6q25-q27) at 0 = 0.05, indicating that the LGMD gene is not in the 6q23-q27 region. Therefore, the dystrophin-homologue sequence is not the gene responsible for LGMD.

• Authors: M R Passos-Bueno, J Terwilliger, J Ott, M Vainzof, D R Love, K E Davies, M Zatz
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 38 Issue 1 Pg. 140-6 (Jan 1991) ISSN: 0148-7299 [Print] United States
• PMID: 2012126 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Dystrophin

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 6 (ultrastructure)
• Dystrophin (genetics)
• Female
• Genes, Recessive
• Genetic Linkage
• Humans
• Male
• Muscular Dystrophies (genetics)
• Pedigree
• Recombination, Genetic
• Sequence Homology, Nucleic Acid