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Literature DB >> 1676561

Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.

L P Ranum¹, L A Duvick, S S Rich, L J Schut, M Litt, H T Orr.

Abstract

Two large kindreds with HLA-linked, autosomal dominant spinocerebellar ataxia (SCA1) were examined with markers from chromosome 6p to determine the location of the SCA1 locus. Results of the three-point analysis between the markers HLA-A, SCA1, and F13A overwhelmingly favor the conclusion that SCA1 is located distal of HLA and proximal of F13A. In addition, our data strongly support the conclusion that SCA1 lies centromeric and genetically very close to the highly informative D6S89 marker within the 8-cM chromosomal segment flanked by the D6S88 and D6S89 markers. In the two kindreds, one recombinant was observed between D6S89 and SCA1, resulting in a recombination fraction of .014 between the two loci.

Entities: Disease Gene

Mesh：

Substances：

Year: 1991 PMID： 1676561 PMCID： PMC1683207

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

26 in total

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20 in total

1. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.

Authors: H Y Zoghbi; C Jodice; L A Sandkuijl; T J Kwiatkowski; A E McCall; S A Huntoon; P Lulli; M Spadaro; M Litt; H M Cann
Journal: Am J Hum Genet Date: 1991-07 Impact factor: 11.025

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Journal: Am J Hum Genet Date: 1994-08 Impact factor: 11.025

3. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.

Authors: T J Kwiatkowski; H T Orr; S Banfi; A E McCall; C Jodice; F Persichetti; A Novelletto; F LeBorgne-DeMarquoy; L A Duvick; M Frontali
Journal: Am J Hum Genet Date: 1993-08 Impact factor: 11.025

4. Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.

Authors: B J Keats; M S Pollack; A McCall; M A Wilensky; L J Ward; M Lu; H Y Zoghbi
Journal: Am J Hum Genet Date: 1991-11 Impact factor: 11.025

5. Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.

Authors: I Lopes-Cendes; E Andermann; E Attig; F Cendes; S Bosch; M Wagner; F Gerstenbrand; F Andermann; G A Rouleau
Journal: Am J Hum Genet Date: 1994-05 Impact factor: 11.025

6. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Authors: G Stevanin; E Le Guern; N Ravisé; H Chneiweiss; A Dürr; G Cancel; A Vignal; A L Boch; M Ruberg; C Penet
Journal: Am J Hum Genet Date: 1994-01 Impact factor: 11.025

7. Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.

Authors: J T Hecht; Y Wang; B Connor; S H Blanton; S P Daiger
Journal: Am J Hum Genet Date: 1993-06 Impact factor: 11.025

8. Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage.

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Journal: Hum Genet Date: 1993-05 Impact factor: 4.132

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Journal: Am J Hum Genet Date: 1995-06 Impact factor: 11.025

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Authors: M Litt; P Kramer; D Browne; S Gancher; E R Brunt; D Root; T Phromchotikul; C J Dubay; J Nutt
Journal: Am J Hum Genet Date: 1994-10 Impact factor: 11.025