Linked Life Data

11803125

Source:http://linkedlifedata.com/resource/pubmed/id/11803125

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2002-1-22
pubmed:abstractText
In this article, we studied the frequency of mutations in the presenilin (PSEN) 1, PSEN2 and amyloid precursor protein genes in a group of patients with late-onset Alzheimer's disease (AD). No pathogenic mutations were found, but a rare non-conservative single-nucleotide polymorphism was detected in the PSEN2 gene (P334R) in a large kindred with familial late-onset AD. No cosegregation was observed in this family. Uncommon polymorphisms can be easily mistaken as a pathogenic mutation when segregation is not analyzed. Family segregation study represents an essential point in considering the pathogenicity of these mutations. These uncommon single-nucleotide polymorphisms should be always taken into account in the genetic testing of AD. They may well have important implications for genetic counselling in AD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0304-3940
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
318
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
166-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation.
pubmed:affiliation
Neurology Service, Institut d'Investigacions Biomediques August Pi i Suyner (IDIBAPS), Hospital Clínic, Barcelona, Spain.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't