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Polymorphic tetranucleotide repeat site within intron 7 of the beta-amyloid precursor protein gene and its lack of association with Alzheimer's disease.
- Source :
-
Human genetics [Hum Genet] 1998 Jul; Vol. 103 (1), pp. 86-9. - Publication Year :
- 1998
-
Abstract
- Mutations found in the beta-amyloid precursor protein (APP) gene in a small subset of patients with Alzheimer's disease (AD) are associated with the development of the disease. Several lines of evidence indicate that specific isoforms of APP generated by alternative splicing of the primary transcript may contribute to the etiology of AD. One of the isoforms, APP695, lacks the Kunitz protease inhibitor (KPI) domain and is produced predominantly in neurons by skipping exon 7 of the APP gene. Previous studies imply that the controlling elements for exon 7 skipping exist in the flanking sequences of the exon. Therefore, we have sequenced the human intron 7 of the APP gene and found a polymorphic tetranucleotide (ATTT)n repeat site within the intron 7. In 183 genetically unrelated subjects (97 AD patients and 86 controls), we found four alleles by polymerase chain reaction (PCR) amplification of the repeat site. Although no particular alleles are associated with AD, this newly identified polymorphic site may be useful in other genetic analyses since preliminary evidence suggests allele frequency differences between African Americans and Caucasians.
- Subjects :
- Age of Onset
Aged
Alabama
Alleles
Base Sequence
Black People genetics
Exons
Female
Gene Frequency
Genotype
Humans
Infant, Newborn
Male
Middle Aged
Molecular Sequence Data
Risk Factors
White People genetics
Black or African American
Alzheimer Disease genetics
Amyloid beta-Protein Precursor genetics
Introns
Microsatellite Repeats genetics
Polymorphism, Genetic
Subjects
Details
- Language :
- English
- ISSN :
- 0340-6717
- Volume :
- 103
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 9737782
- Full Text :
- https://doi.org/10.1007/s004390050788