Document Detail


Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
MedLine Citation:
PMID:  1895314     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Linkage was shown between the myotonic dystrophy locus (DM) and a highly polymorphic AC repeat marker within the kallikrein (KLK1) locus (Z = 3.00, theta = 0.0). Linkage between KLK1 and the highly polymorphic AC repeat marker within the apolipoprotein C2 (APOC2) locus, which had been established in normal families, was confirmed in myotonic dystrophy families (Z = 4.37, theta = 0.11). These highly polymorphic AC repeat markers flank DM on chromosome 19. The gene order is cen-APOC2 (0.03) DM (0.08) KLK1-qter with recombination frequencies shown in parentheses. Genotypes for the AC repeat markers can be determined simultaneously by multiplex PCR and separation of the two base pair differences between adjacent alleles on sequencing gels. In informative families, this approach provides rapid diagnosis and is more accurate than methods using markers restricted to the proximal side of the myotonic dystrophy gene.
Authors:
J C Mulley; A K Gedeon; S J White; E A Haan; R I Richards
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  28     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1991 Jul 
Date Detail:
Created Date:  1991-10-21     Completed Date:  1991-10-21     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  448-52     Citation Subset:  IM    
Affiliation:
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Female
Genetic Markers
Genotype
Humans
Linkage (Genetics)
Male
Molecular Sequence Data
Myotonic Dystrophy / diagnosis*,  epidemiology,  genetics
Pedigree
Polymerase Chain Reaction
Predictive Value of Tests
Prevalence
Recombination, Genetic
Risk
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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