R W Burman1, K S Anoe, B W Popovich. 1. Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA.
Abstract
PURPOSE: We sought to compare patterns of full mutation repeat-length variability in the peripheral blood DNA of patients with fragile X syndrome to determine whether siblings possess mutation patterns more similar than those of unrelated patients. METHODS: Mutation patterns were visualized by Southern blot analysis and captured digitally with a phosphor imager. Novel comparison strategies based on overlapping profile plots and calculation of weighted mean CGG repeat values were used to assess mutation pattern similarity. RESULTS: Within the population that we analyzed of 56 patients with full mutation, mutation patterns were found to be more similar in siblings than in unrelated patients. CONCLUSION: These results indicate that repeat-length variability may be generated in a nonrandom manner and that familial factors influence this process.
PURPOSE: We sought to compare patterns of full mutation repeat-length variability in the peripheral blood DNA of patients with fragile X syndrome to determine whether siblings possess mutation patterns more similar than those of unrelated patients. METHODS: Mutation patterns were visualized by Southern blot analysis and captured digitally with a phosphor imager. Novel comparison strategies based on overlapping profile plots and calculation of weighted mean CGG repeat values were used to assess mutation pattern similarity. RESULTS: Within the population that we analyzed of 56 patients with full mutation, mutation patterns were found to be more similar in siblings than in unrelated patients. CONCLUSION: These results indicate that repeat-length variability may be generated in a nonrandom manner and that familial factors influence this process.
Authors: Amy K Sullivan; Dana C Crawford; Elizabeth H Scott; Mary L Leslie; Stephanie L Sherman Journal: Am J Hum Genet Date: 2002-05-03 Impact factor: 11.025