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Literature DB >> 6447365

The origin of Huntington's chorea in the Afrikaner population of South Africa.

M R Hayden, H C Hopkins, M Macrea, P H Beighton.

Abstract

Huntington's chorea is prevalent among the Afrikaner population of South Africa. The origin of the gene for the disorder in this population group has been traced over 14 generations from the present time to the days of the first free burghers at the Cape of Good Hope. Over 200 affected individuals in more than 50 supposedly unrelated families have been found to be ancestrally related through a common progenitor in the 17th century.

Entities: Disease

Mesh：

Year: 1980 PMID： 6447365

Source DB: PubMed Journal: S Afr Med J

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Cited

8 in total

1. Extended intermarker linkage disequilibrium in the Afrikaners.

Authors: Diana Hall; Ellen M Wijsman; J Louw Roos; Joseph A Gogos; Maria Karayiorgou
Journal: Genome Res Date: 2002-06 Impact factor: 9.043

2. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Authors: Amanda Krause; Claire Mitchell; Fahmida Essop; Susan Tager; James Temlett; Giovanni Stevanin; Christopher Ross; Dobrila Rudnicki; Russell Margolis
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2015-06-16 Impact factor: 3.568

3. Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

Authors: J Theilmann; S Kanani; R Shiang; C Robbins; O Quarrell; M Huggins; A Hedrick; B Weber; C Collins; J J Wasmuth
Journal: J Med Genet Date: 1989-11 Impact factor: 6.318

Review 4. The epidemiology of Huntington's disease.

Authors: P S Harper
Journal: Hum Genet Date: 1992-06 Impact factor: 4.132

5. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.

Authors: Gonçalo R Abecasis; Rachel A Burt; Diana Hall; Sylvia Bochum; Kimberly F Doheny; S Laura Lundy; Marie Torrington; J Louw Roos; Joseph A Gogos; Maria Karayiorgou
Journal: Am J Hum Genet Date: 2004-01-28 Impact factor: 11.025

The origin of Huntington's chorea in the Afrikaner population of South Africa.

1. Extended intermarker linkage disequilibrium in the Afrikaners.

2. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

3. Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

Review 4. The epidemiology of Huntington's disease.

5. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.

6. Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.

7. The high frequency of juvenile Huntington's chorea in South Africa.

8. Patterns of African and Asian admixture in the Afrikaner population of South Africa.