Homozygosity mapping in Andermann syndrome

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134706

Melanson, M; Casaubon, L; Lopes-Cendes, I ^[1]

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1. Montreal General Hospital (Canada); and others

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 minimal number of individuals for the purposes of screening the entire genome in rare recessive disorders.

• OSTI ID: 134706
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CONGENITAL MALFORMATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MENTAL DISORDERS
NERVOUS SYSTEM DISEASES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
QUEBEC
RECESSIVE MUTATIONS
STATISTICS