Linked Life Data

11266116

Source:http://linkedlifedata.com/resource/pubmed/id/11266116

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-3-26
pubmed:abstractText
The goal of this study was to define the correlation between genotype and phenotype in Korean patients with spinal muscular atrophy (SMA). The SMA can be classified into three groups based on the age of onset and the clinical course. The candidate genes, survival motor neuron (SMN) gene, neuronal apoptosis inhibitory protein (NAIP) gene, and p44 gene were mapped and duplicated with telomeric and centromeric. The loss of the telomeric SMN occurs by a different mechanism. That is the deletion or conversion of telomeric SMN to centromeric SMN, in which case the conversion could produce a mild phenotype and deletion could produce a severe one. It has been known that there may be a balance between the numbers of copies expressed by the centromeric and telomeric SMN genes. In our study, ten patients with type I SMA and two type II patients were identified by their clinical findings and DNA studies. The major deletion of SMA candidate genes, deletion of the SMN gene, NAIP gene, and p44 gene were identified in six patients with type I SMA, while the rest of type I and all the type II patients showed the deletion of the SMN gene only. Allele numbers of the C212 marker were compared in patients and normal controls in order to find the correlation between the copy numbers and the clinical severity. The result was that type I patients had 2-5 alleles and the normal controls had 4-6. This suggests that the deletion is a major determining factor in the clinical phenotype. However, two type I patients with telomeric NAIP gene deletion notably had 4-5 alleles, as in the normal controls. This result implies that the correlation between the copy numbers and the severity is uncertain as opposed to the previous hypothesis. One type I patient showed the conversion of the centromeric SMN gene to the telomeric, which supports the conclusion that gene conversion is an important molecular mechanism for SMA. In the study of one hundred normal newborns, two physically normal newborns showed deletion of the centromeric SMN gene, suggesting frequent rearrangement in the locus.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1016-8478
pubmed:author
pubmed:issnType
Print
pubmed:day
28
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
21-7
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:11266116-Child, pubmed-meshheading:11266116-Cyclic AMP Response Element-Binding Protein, pubmed-meshheading:11266116-Family Health, pubmed-meshheading:11266116-Female, pubmed-meshheading:11266116-Gene Conversion, pubmed-meshheading:11266116-Gene Deletion, pubmed-meshheading:11266116-Gene Dosage, pubmed-meshheading:11266116-Genotype, pubmed-meshheading:11266116-Humans, pubmed-meshheading:11266116-Korea, pubmed-meshheading:11266116-Male, pubmed-meshheading:11266116-Motor Neurons, pubmed-meshheading:11266116-Nerve Tissue Proteins, pubmed-meshheading:11266116-Neuronal Apoptosis-Inhibitory Protein, pubmed-meshheading:11266116-Pedigree, pubmed-meshheading:11266116-Phenotype, pubmed-meshheading:11266116-RNA-Binding Proteins, pubmed-meshheading:11266116-SMN Complex Proteins, pubmed-meshheading:11266116-Spinal Muscular Atrophies of Childhood
pubmed:year
2001
pubmed:articleTitle
Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy.
pubmed:affiliation
Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't