Long-range mapping in the research and diagnosis of genetic disease

Genome ◽  
1989 ◽  
Vol 31 (2) ◽  
pp. 730-736
Author(s):  
G. J. B. van Ommen ◽  
P. L. Pearson
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Kidney Disease ◽  
Genetic Disease ◽  
Reverse Genetics ◽  
Chromosomal Localization ◽  
Chromosomal Dna ◽  
Polycystic Kidney ◽  
Human Genetic Disease ◽  
Biological Methods

This paper reviews current genetic and molecular biological methods that may be used in the so-called "reverse genetics" approach. These methods are the mapping, isolation, and study of the chromosomal DNA containing a previously unidentified gene responsible for a genetic disease, beginning with its chromosomal localization. In principle, the reverse genetics methodology follows the same path for different diseases studied. An overall outline of the steps to be undertaken is given and discussed. Several stages are illustrated with reference to current research in the fields of Duchenne muscular dystrophy, Huntington's disease, and polycystic kidney disease.Key words: human genetic disease, Duchenne muscular dystrophy, Huntington disease, polycystic kidney disease, reverse genetics.

Electron microscopy of changes in lower extremity muscles in Duchenne muscular dystrophy

1991 ◽  
Vol 81 (6) ◽  
pp. 294-299
Author(s):  
J Atkin ◽  
VW Thompson ◽  
RB Boyd
Keyword(s):  
Electron Microscopy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Disease ◽  
Extensor Digitorum Longus ◽  
Microscopic Level ◽  
Electron Microscopic Level ◽  
Electron Microscopic ◽  
Dystrophic Mice ◽  
Insight Into

Duchenne muscular dystrophy is a genetic disease with a sex-linked pattern of inheritance. This disease is present at birth, becomes symptomatic during early childhood, leads to inability to walk near the end of the first decade, and usually results in death by the end of the second decade. In this study, the extensor digitorum longus and soleus muscles from genetically dystrophic mice were examined at the electron microscopic level. The authors describe their results and discuss how these findings might provide some insight into one of the mechanisms of fiber necrosis in Duchenne muscular dystrophy.

The History of a Genetic Disease

2013 ◽  
Author(s):  
Alan E. H. Emery ◽  
Marcia L. H. Emery
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Disease ◽  
Current Understanding ◽  
History Of

This resource traces the history of Duchenne Muscular Dystrophy in detail along with a commentary of Edward Meryon's research, which has led to our current understanding of the disease, with full references and informative, historically relevant illustrations.

scholarly journals Old drug, new use: Can Amitriptyline improve mood and reduce skeletal muscle inflammation in a mouse model of Duchenne Muscular Dystrophy?

2012 ◽  
pp. 47-51
Author(s):  
Jennifer Manning
Keyword(s):  
Skeletal Muscle ◽  
Cell Wall ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Mechanical Damage ◽  
Chemical Components ◽  
Fat Cells ◽  
Structural Components

DMD is an inherited genetic disease affecting 1 in 3500 males. It results from the deletion of a gene which makes the protein Dystrophin. Dystrophin is essential for maintaining the structure of cells. In skeletal muscle, it acts as an anchor for structural components inside the cell. When dystrophin is missing, it leads to mechanical damage and tears in the muscle cell wall, which causes a cascade of events and leads to chronic inflammation. The chemical components of this inflammatory response lead to extensive muscle damage in sufferers. Muscle tissue is replaced with collagen and fat cells, leading to a significantly weaker and dysfunctional muscle. Sufferers of DMD are wheelchair-bound by their teenage years, and don’t normally live beyond their twenties. Clinical presentation of the disease occurs when young boys start walking; the weight put on the muscles of the calf exasperate the damage and they have difficulty running, jumping, ...

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