PMID- 10200054
OWN - NLM
STAT- MEDLINE
DCOM- 19990405
LR  - 20091119
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 6
DP  - 1998
TI  - Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French
      family with early-onset Alzheimer's disease and transmission study by mismatch
      enhanced allele specific amplification. Mutations in brief no. 141. Online.
      besancon@rockefeller1.univ.lyon1.fr.
PG  - 481
AB  - Mutations in the presenilin-1 (PS1) gene account for the majority of familial
      early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the 
      PS1 gene for the present of mutations in a French family with EOAD, using single 
      strand conformation polymorphism (SSCP) analysis. Patients in the pedigree showed
      a missense mutation in exon 11 of the PS1 gene involving a transition of G to A, 
      altering glycine to glutamate at codon 378. The cosegregation of the mutation
      with EOAD in the family was studied by allele specific amplification, enhanced by
      the introduction of a mismatch at the penultimate position near the 3' primer
      end. The mutation has not been described before and is located within the third
      large cytoplasmic loop and may lead to the appearance of a short additional
      a-helix.
FAU - Besancon, R
AU  - Besancon R
AD  - Laboratoire de Psychopharmacologie Biologique, Faculte de Pharmacie, Institut des
      Sciences Pharmaceutiques et Biologiques (ISPB), Universite Claude Bernard Lyon-I,
      France.
FAU - Lorenzi, A
AU  - Lorenzi A
FAU - Cruts, M
AU  - Cruts M
FAU - Radawiec, S
AU  - Radawiec S
FAU - Sturtz, F
AU  - Sturtz F
FAU - Broussolle, E
AU  - Broussolle E
FAU - Chazot, G
AU  - Chazot G
FAU - van Broeckhoven, C
AU  - van Broeckhoven C
FAU - Chamba, G
AU  - Chamba G
FAU - Vandenberghe, A
AU  - Vandenberghe A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Membrane Proteins)
RN  - 0 (PSEN1 protein, human)
RN  - 0 (Presenilin-1)
SB  - IM
MH  - Age of Onset
MH  - *Alleles
MH  - Alzheimer Disease/*genetics
MH  - Base Pair Mismatch
MH  - Exons
MH  - Genetic Testing
MH  - Humans
MH  - Membrane Proteins/*genetics
MH  - Mutation, Missense/*genetics
MH  - Pedigree
MH  - Presenilin-1
EDAT- 1999/04/13 02:08
MHDA- 2000/06/22 10:00
CRDT- 1999/04/13 02:08
PHST- 1999/04/13 02:08 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/13 02:08 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU12>3.0.CO;2-Q [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU12>3.0.CO;2-Q [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(6):481. doi:
      10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU12>3.0.CO;2-Q.