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P1–290: Association of genetic polymorphisms of CHRNA4,7 with Sporadic Alzheimer's disease
Author(s) -
Shan Keren
Publication year - 2006
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2006.05.667
Subject(s) - biology , genetics , genotype , disease , pathogenesis , alzheimer's disease , exon , genetic association , gene , single nucleotide polymorphism , medicine , immunology
mRNA/ESTs (Unigen cluster) and mRNAs (RefSeq) with genomic sequences), lead us to identify 3,449 genes that may contain 5,676 additional exons. The genomic consistency of these exons was confirmed by the detection of consensus splice donor and acceptor site sequences bounding more than 93% of these additional exons. Furthermore, of a random selection of 15 additional exons, 93% were validated by RT-PCR in human brain tissue. We next evaluated the relevance of such an approach to prioritize and optimize the selection and study of candidate genes in Alzheimer’s disease (AD). We observed that 336 genes located within the risk-associated loci (over nine chromosomes) previously identified in AD genome Scan studies, may present non-itemized splicing events. We suggest that such a systematic comparison may accelerate the identification of novel genetic determinans in human-specific multifactorial diseases.