A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy
A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome
β Scribed by David Robinson; Margaret Lamont; Greta Curtis; Denis C. Shields; Peter Phelps
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 260 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Linkage analysis has been carried out in a family with severe congenital sensorineural deafness with a structural abnormality of the inner ear. Recombinations show the gene responsible for deafness in this family to lie between the loci DXS255 (Xp11.22) and DXS94 (Xq22). Close linkage was found to locus DXS159 (cpX289) in Xq12, with a LOD score of 3.155 and 0 recombination. This location is consistent with other linkage studies of X-linked deafness.
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