Journal ArticleDOI
The use of apolipoprotein CII as a genetic marker for myotonic dystrophy.
Thomas D. Bird,Thomas D. Bird,Michael Boehnke,Gerard D. Schellenberg,Samir S. Deeb,Hillary Lipe +5 more
TLDR
It is demonstrated that the use of a Ban I restriction site polymorphism for apolipoprotein CII adds additional useful information when combined with the more commonly used Taq I polymorphism.Abstract:
• In five families we have confirmed the close linkage between the genes for myotonic dystrophy and apolipoprotein Cll. The total maximum lod (log of the odds) score was 3.32 at 0 recombination. We demonstrate that the use of a Ban I restriction site polymorphism for apolipoprotein Cll adds additional useful information when combined with the more commonly used Taq I polymorphism. The potential practical clinical use of these markers for the prenatal diagnosis of myotonic dystrophy is demonstrated.read more
Citations
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Journal ArticleDOI
Myotonic dystrophy: linkage with apolipoprotein E and estimation of the gene carrier status with genetic markers.
Marie-Christine Thibault,Jean Mathieu,Sital Moorjani,André Lescault,Claude Prévost,Daniel Gaudet,Jean Morissette,Claude Laberge +7 more
TL;DR: A familial linkage analysis between MD and ApoE was performed using the J Ott LIPED program to estimate the genetic distance between these 2 genes, which suggests that the loci for MD and apolipoprotein E are at a distance of 0 to 0.03 Morgan.
Journal ArticleDOI
Preliminary findings on the variation of serum apolipoprotein levels in neural degenerative disorders.
Teruaki Ikeda,Hiroyuki Sugiuchi,Umeko Senba,Yohko Shibuya,Yoshinori Uji,Hiroaki Okabe,Shukuro Araki +6 more
TL;DR: Patients with several kinds of neural diseases with motor neuron degenerative disorders, spinocerebellar degeneration, Parkinson's disease and age‐matched healthy controls are measured using the immunoturbidimetric method.
Journal ArticleDOI
The triumph of linkage analysis.
TL;DR: In the past decade, rapid advances have occurred in understanding of the biochemical basis of inherited neurological disease, primarily resulting from detection of enzyme defects, because of the introduction of such recombinant DNA techniques as linkage analysis.
Journal ArticleDOI
Treatment of muscular dystrophies
TL;DR: A review of recent investigations in Duchenne muscular dystrophy, which have identified the abnormal gene and the missing or defective gene product, dystrophin, which will lead to more rational and specific therapeutic approaches.
References
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TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
Journal ArticleDOI
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Journal Article
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.
Journal ArticleDOI
Primary structure of very low density apolipoprotein C-II of human plasma.
TL;DR: The alignment of the cyanogen bromide fragments has been established as CNBr-III-I-II by isolation and sequence of the tryptic peptides of the intact protein.