By N M Hooper; Humana Press
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Extra resources for Alzheimer's disease : methods and protocols
A splice variant common to both PS-1 and PS-2 leading to loss of transcript encoding part of the sixth transmembrane domain and the beginning of the hydrophilic loop domain results in deletion of exon 8 (54,58). An additional PS-1 transcript lacking four amino acids (VRSQ) at the 3' end of exon 3 has also been reported (54,61). When present, this sequence constitutes a potential phosphorylation site for protein kinase C. In addition Anwar et al. (62) identified a number of truncated transcripts of PS-1 using splice sites different from the previously defined intron/exon boundaries, although the functional significance of this is unclear.
At least three studies have suggested associations between AD and different alleles of LRP1 (88–90), although others have failed to confirm this association (17,91). Other genetic associations have demonstrated similarly contradictory results. Wragg et al. (92) reported an association between an intronic polymorphism in PS-1 downstream from exon 8 and late-onset AD without family history. The more common allele (allele 1) was associated with an approximate doubling of risk in AD cases compared with the 1,2 and 2,2 genotypes combined.
1998) No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer’s disease. Hum. Mol. Genet. 7, 937–939. 110. Montoya, S. , Aston, C. , DeKosky, S. , Kamboh, M. , Lazo, J. , and Ferrell, R. E. (1998) Bleomycin hydroloase is associated with risk of sporadic Alzheimer’s disease. Nature Genet. 18, 211–212. 111. , Haines, J. , Scott, W. , et al. (1998) Analysis of the association between bleomycin hydrolase and Alzheimer ’s disease in Caucasians. Neurobiol.