Polymorphic tetranucleotide repeat site within intron 7 of the beta-amyloid precursor protein gene and its lack of association with Alzheimer's disease.
Hum Genet
; 103(1): 86-9, 1998 Jul.
Article
en En
| MEDLINE
| ID: mdl-9737782
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Intrones
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Precursor de Proteína beta-Amiloide
/
Repeticiones de Microsatélite
/
Enfermedad de Alzheimer
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
/
Newborn
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Hum Genet
Año:
1998
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Alemania