Article
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Human genetics - 1 Feb 2001
Mailman M D, Hemingway T, Darsey R L, Glasure C E, Huang Y, Chadwick R B, Heinz J W, Papp A C, Snyder P J, Sedra M S, Schafer R W, Abuelo D N, Reich E W, Theil K S, Burghes A H, de la Chapelle A, Prior T W
Abstract excerpt
We have analyzed the survival motor neuron gene (SMN1) dosage in 100 parents of children with homozygous SMN1 deletions. Of these parents, 96 (96%) demonstrated the expected one-copy SMN1 carrier genotype. However, four parents (4%) were observed to have a normal two-copy SMN1 dosage. The presence of two intact SMN1 genes in the parent of an affected child indicates either the occurrence of a de novo mutation...
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