Origin of the SCA7 gene mutation in South Africa: Implications for molecular diagnostics [1]

Clinical Genetics

Volumn 70, Issue 5, 2006, Pages 415-417

  Greenberg, Jacquie ^a   Solomon, G A E ^a   Vorster, A A ^a   Heckmann, J ^b   Bryer, A ^b  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 7; DNA;

CAUCASIAN; DIAGNOSTIC PROCEDURE; GENE FREQUENCY; GENE MUTATION; GENETIC TRAIT; GENOTYPE; HAPLOTYPE; HUMAN; LETTER; MICROSATELLITE MARKER; NEGRO; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH AFRICA; SPINOCEREBELLAR DEGENERATION;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; CASE-CONTROL STUDIES; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SOUTH AFRICA; SPINOCEREBELLAR ATAXIAS;

EID: 33749478724     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00680.x     Document Type: Letter

References (5)

1. Bryer A, Krause A, Bill P et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci 2003: 216: 47-54.
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3. Stevanin G, Giunti P, Belal GD et al. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG). Eur J Hum Genet 1999: 7: 889-896.
4. Nardacchione A, Orsi L, Brusco A et al. Definition of the smallest pathological CAG expansion in SCA7. Clin Genet 1999: 56: 232-234.
5. Modi G, Modi M, Martinus I, Rodda J, Saffer D. The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA7) in three Black South African families. Acta Neurol Scand 2000: 101: 177-182.