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- W44398416 abstract "Objective: To identify the gene causing Andermann syndrome using homozygosity mapping in a large founder population. Background: Andermann syndrome is a rare autosomal recessive disease found almost exclusively in the Charlevoix-Saguenay region of Quebec. Patients have dysmorphic facies, moderate mental retardation and progressive motor neuropathy. Total or partial agenesis of the corpus callosum is found in over 66% of patients. The majority of the affected individuals can be traced to a common ancestral couple living in Quebec in 1957. Homozygosity mapping is a technique which takes advantage of this founder effect by assuming that a single ancestral mutation is responsible for the disease. It is expected that all affected individuals should be homozygous for a common polymorphic marker which is closely linked to the disease gene. Method: Nine nuclear families were studied using DNA from healthy parents and 2 to 4 affected children. Linkage was sought by PCR using microsatellite markers 20 cM throughout the genome. Results: To date, 100 markers representing 50% of the genome have been excluded for linkage to Andermann syndrome using homozygosity mapping. As our study progresses, we will report up-to-date results. Conclusion: Homozygosity mapping is an efficient strategy that allows rapid analysis of a minimalmore » number of individuals for the purposes of screening the entire genome in rare recessive disorders.« less" @default.
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- W44398416 date "1994-09-01" @default.
- W44398416 modified "2023-09-27" @default.
- W44398416 title "Homozygosity mapping in Andermann syndrome" @default.
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