Document Detail

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
MedLine Citation:
PMID:  11281448     Owner:  NLM     Status:  MEDLINE    
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 event or a situation in which one chromosome has two copies of SMN1, whereas the other is null. We have separated individual chromosomes from two of these parents with two-copy SMN1 dosage by somatic cell hybridization and have employed a modified quantitative dosage assay to provide direct evidence that one parent is a two-copy/ zero-copy SMN1 carrier, whereas the other parent had an affected child as the result of a de novo mutation. These findings are important for assessing the recurrence risk of parents of children with spinal muscular atrophy and for providing accurate family counseling.
M D Mailman; T Hemingway; R L Darsey; C E Glasure; Y Huang; R B Chadwick; J W Heinz; A C Papp; P J Snyder; M S Sedra; R W Schafer; D N Abuelo; E W Reich; K S Theil; A H Burghes; A de la Chapelle; T W Prior
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human genetics     Volume:  108     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2001 Feb 
Date Detail:
Created Date:  2001-04-02     Completed Date:  2001-04-12     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  109-15     Citation Subset:  IM    
Department of Pathology, The Ohio State University, Columbus 43210, USA.
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MeSH Terms
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5*
Cyclic AMP Response Element-Binding Protein
DNA Primers
Heterozygote Detection*
In Situ Hybridization, Fluorescence
Muscular Atrophy, Spinal / genetics*
Nerve Tissue Proteins / genetics*
RNA-Binding Proteins
SMN Complex Proteins
Survival of Motor Neuron 1 Protein
Grant Support
Reg. No./Substance:
0/Cyclic AMP Response Element-Binding Protein; 0/DNA Primers; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 0/SMN Complex Proteins; 0/SMN1 protein, human; 0/Survival of Motor Neuron 1 Protein

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