Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 Andrea Richter,

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Presentation transcript:

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 Andrea Richter, John D. Rioux, Jean-Pierre Bouchard, Jocelyne Mercier, Jean Mathieu, Bing Ge, Josée Poirier, Dominique Julien, Gabor Gyapay, Jean Weissenbach, Thomas J. Hudson, Serge B. Melançon, Kenneth Morgan The American Journal of Human Genetics Volume 64, Issue 3, Pages 768-775 (March 1999) DOI: 10.1086/302274 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Location-score analysis of ARSACS locus. The SIMWALK2 program was used to generate 2,000 sampled pedigrees for each original pedigree, by Markov-chain Monte Carlo methods. These representative pedigrees are completely typed and proportional to their true likelihood. The MENDEL program was used in conjunction with SIMWALK2, to compute the multipoint LOD scores (E. Sobel, personal communication). The run with the larger LOD scores used marker-allele frequencies that were weighted estimates from ARSACS-associated and normal haplotypes (see Methods); the run with the smaller LOD scores used sample estimates of marker-allele frequencies. The American Journal of Human Genetics 1999 64, 768-775DOI: (10.1086/302274) Copyright © 1999 The American Society of Human Genetics Terms and Conditions