Publication Date:
1987-03-27
Description:
Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bartlett, R J -- Pericak-Vance, M A -- Yamaoka, L -- Gilbert, J -- Herbstreith, M -- Hung, W Y -- Lee, J E -- Mohandas, T -- Bruns, G -- Laberge, C -- NS19999/NS/NINDS NIH HHS/ -- RR-30/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 1987 Mar 27;235(4796):1648-50.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3029876" target="_blank"〉PubMed〈/a〉
Keywords:
Adult
;
Autoradiography
;
Child
;
Chromosome Mapping
;
Chromosomes, Human, Pair 19
;
DNA Restriction Enzymes/metabolism
;
Genetic Linkage
;
Humans
;
Muscular Dystrophies/*diagnosis/genetics
;
Pedigree
;
Polymorphism, Genetic
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
