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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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1435-232X

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A linkage disequilibrium at the candidate gene loc

Authors: Minoru Takashima Kinya Ishikawa Utako Nagaoka Shinichi Shoji Hidehiro Mizusawa
Publish Date: 2001/04
Volume: 46, Issue: 4, Pages: 167-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptWe previously mapped the gene responsible for autosomal dominant cerebellar ataxia ADCA type III to a 109cM interval between D16S3089 and D16S515 on chromosome 16q This region however was identical to the candidate locus of spinocerebellar ataxia type 4 SCA4 In this study we extended our research to refine the gene locus of the disease by applying linkage disequilibrium with 20 microsatellite DNA markers With 9 markers flanked by D16S3031 and D16S3107 we found that the affected individuals in six families had a common haplotype on their disease chromosomes Furthermore linkage disequilibrium was demonstrated with 5 informative markers D16S3019 P = 0013 D16S3067 P = 0008 D16S3141 P = 0011 D16S496 P = 0032 and D16S3107 P = 0000 These results indicate that the disease could have originated from a common ancestor harboring a mutation within a less than 3cM region between D16S3043 and D16S3095 The founder alleles were also observed in other patients with ADCA type III unrelated to the six families

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