Abstract | BACKGROUND: RESULTS: The desmuslin gene was localized to chromosome 15q26.3 by electronic screening of the human DNA sequence database. Primer pairs were designed to amplify the 5 exons of the desmuslin gene in 11 overlapping DNA segments. The desmuslin gene was screened for mutations in 71 patients with various forms of myopathy for which there was no known cause. In this analysis, 10 common and 2 rare amino acid altering single-nucleotide polymorphisms were identified, all of which were seen in a control population of individuals thus making these unlikely causes of the phenotype. Interestingly, one of the single-nucleotide polymorphisms found in a patient resulted in a premature stop codon in the first exon. The nonsense mutation was also detected in the patient's unaffected father and one unaffected control; it was detected in 0.44% (2/454) of unrelated chromosomes and is therefore predicted to have a homozygous frequency of 0.002%. CONCLUSION: No causative mutations were found in the desmuslin gene. However, the single-nucleotide polymorphisms mapped in this study represent a well-mapped group that can be used for disequilibrium studies of this region of chromosome 15q26.3.
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Authors | Y Mizuno, A A Puca, K F O'Brien, A H Beggs, L M Kunkel |
Journal | BMC genetics
(BMC Genet)
Vol. 2
Pg. 8
( 2001)
ISSN: 1471-2156 [Electronic] England |
PMID | 11454237
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Intermediate Filament Proteins
- desmuslin
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Topics |
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA Mutational Analysis
- Gene Components
- Genome
- Humans
- Intermediate Filament Proteins
(genetics)
- Muscular Diseases
(diagnosis, genetics)
- Polymorphism, Single Nucleotide
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