Publication Date:
1988-11-04
Description:
Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Malhotra, S B -- Hart, K A -- Klamut, H J -- Thomas, N S -- Bodrug, S E -- Burghes, A H -- Bobrow, M -- Harper, P S -- Thompson, M W -- Ray, P N -- New York, N.Y. -- Science. 1988 Nov 4;242(4879):755-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genetics Department, Hospital for Sick Children, Toronto, Ontario, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3055295" target="_blank"〉PubMed〈/a〉
Keywords:
Base Sequence
;
Blotting, Southern
;
Chromosome Deletion
;
DNA Probes
;
Dystrophin
;
Exons
;
Genes
;
Humans
;
Muscle Proteins/*genetics
;
Muscular Dystrophies/*genetics
;
Mutation
;
Phenotype
;
*X Chromosome
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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