A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T-->C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation. The pedigree analysis and the literature data strongly suggest an etiopathogenic relationship of the mutation with the disorder.
Ramirez-Dueñas
M G
MG
Departamento de Fisiología, Universidad de Guadalajara, Jalisco, Mexico.
Rogaeva
E A
EA
Leal
C A
CA
Lin
C
C
Ramirez-Casillas
G A
GA
Hernandez-Romo
J A
JA
St George-Hyslop
P H
PH
Cantu
J M
JM
D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D019943:Amino Acid Substitution; D006801:Humans; D007930:Leucine; D008565:Membrane Proteins / Q000235:genetics*; D008800:Mexico; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D053764:Presenilin-1; D011392:Proline
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D011392:Proline; D007930:Leucine