Linked Life Data

19663601

Source:http://linkedlifedata.com/resource/pubmed/id/19663601

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-8-11
pubmed:abstractText
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, and about 95% of SMA patients are homozygous for deletions in the SMN1 gene. Herein, classical polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) using DraI yielded false homozygous deletions of SMN1 exon 7 in a patient with SMA, but multiple ligation-dependent probe amplification analysis revealed one remaining copy of SMN1 exon 7. Sequencing showed that this false deletion in the PCR-RFLP resulted from a novel mutation of one SMN1 copy that was not deleted (c.863G > T, p.R288M). This novel sequence variant introduced a mismatch that interfered with primer binding. These findings demonstrate that comprehensive analysis using PCR-RFLP, multiple ligation-dependent probe amplification, and sequencing can reliably and correctly diagnose SMA.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1945-0257
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
511-3
pubmed:meshHeading
pubmed-meshheading:19663601-Base Sequence, pubmed-meshheading:19663601-Deoxyribonucleases, Type II Site-Specific, pubmed-meshheading:19663601-Exons, pubmed-meshheading:19663601-False Positive Reactions, pubmed-meshheading:19663601-Homozygote, pubmed-meshheading:19663601-Humans, pubmed-meshheading:19663601-Infant, pubmed-meshheading:19663601-Male, pubmed-meshheading:19663601-Molecular Sequence Data, pubmed-meshheading:19663601-Muscular Atrophy, Spinal, pubmed-meshheading:19663601-Nucleic Acid Amplification Techniques, pubmed-meshheading:19663601-Polymerase Chain Reaction, pubmed-meshheading:19663601-Polymorphism, Restriction Fragment Length, pubmed-meshheading:19663601-Sequence Analysis, DNA, pubmed-meshheading:19663601-Sequence Deletion, pubmed-meshheading:19663601-Survival of Motor Neuron 1 Protein
pubmed:year
2009
pubmed:articleTitle
False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.
pubmed:affiliation
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
pubmed:publicationType
Journal Article, Case Reports