Key result
DNA pooling and shared segment analysis in an extended kindred identified a susceptibility locus on chromosome 1 for atrioventricular canal defects, inherited as an autosomal dominant trait.
Observational
Identifies a novel genetic susceptibility locus on chromosome 1 for non-syndromic atrioventricular canal defects, demonstrating an autosomal dominant inheritance pattern with incomplete penetrance.
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Supports genetic counseling in select families; leaves open causal gene discovery and generalizability.
Val C. Sheffield (1997) conducted an observational in Atrioventricular canal defects (AVCDs). DNA pooling and shared segment analysis was evaluated on Identification of a genetic locus shared by affected individuals. DNA pooling and shared segment analysis in an extended kindred identified a susceptibility locus on chromosome 1 for atrioventricular canal defects, inherited as an autosomal dominant trait.
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