ABSENCE OF LINKAGE DISEQUILIBRIUM AT AMYLOID PRECURSOR PROTEIN GENE LOCUS IN JAPANESE FAMILIAL ALZHEIMERS-DISEASE WITH 717VAL-]ILE MUTATION

Citation
H. Tanaka et al., ABSENCE OF LINKAGE DISEQUILIBRIUM AT AMYLOID PRECURSOR PROTEIN GENE LOCUS IN JAPANESE FAMILIAL ALZHEIMERS-DISEASE WITH 717VAL-]ILE MUTATION, Neuroscience letters, 162(1-2), 1993, pp. 63-66
Citations number
18
Categorie Soggetti
Neurosciences
Journal title
ISSN journal
03043940
Volume
162
Issue
1-2
Year of publication
1993
Pages
63 - 66
Database
ISI
SICI code
0304-3940(1993)162:1-2<63:AOLDAA>2.0.ZU;2-Y
Abstract
To date, eleven independent FAD pedigrees with the 717Val-->Ile mutati on have been identified. Interestingly, five pedigrees were of Japanes e origin and four were of British origin. The apparent ethnic predicti on of this mutation raises the possibility that there is a founder eff ect in these two island nations. We did not observe any significant li nkage disequilibrium in any locus of APP and GT12 loci in the five Jap anese FAD pedigrees with the 717Val-->Ile mutation. A founder effect w ould probably not be present in Japanese FAD pedgrees with the 717Val- ->Ile mutation.