Huntington's disease confirmed by genetic testing in five african families
β Scribed by Dr. E. Silber; J. Kromberg; J. A. Temlett; A. Krause; D. Saffer
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 440 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
Abstract
Huntington's disease is an autosomalβdominant inherited progressive neurodegenerative disease associated with an expanded trinucleotide repeat (CAG) sequence on the short arm of chromosome 4. The disease is considered rare in Africans. We report five black South African families of different ethnic origin with proven expansions typical of Huntington's disease and discuss the possible origins of the disease in Africa.
π SIMILAR VOLUMES
The major factor limiting use of the polymorphic DNA sequence D4S 10, genetically linked to the Huntington's disease (HD) locus, in clinical practice is the fragmented nature of HD families. A population survey in South Wales suggested that genetic prediction would only be possible in 15% of adults