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Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome

✍ Scribed by Petersen, Michael B. ;Karadima, Georgia ;Samaritaki, Maria ;Avramopoulos, Dimitris ;Vassilopoulos, Dimitris ;Mikkelsen, Margareta


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
101 KB
Volume
93
Category
Article
ISSN
0148-7299

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As people with Down syndrome (DS) age, they are at greater risk for Alzheimer disease (AD) than the general population. It has been suggested that polymorphisms at the genes for presenilin-1 (PS-1) and ␣-1antichymotrypsin (ACT) confer an increased risk for AD in the general population, and therefore

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Mutations in the Presenilin 1 (PS1) gene on chromosome 14 cause most early-onset familial Alzheimer's disease (AD). An intronic polymorphism in the PS1 gene was recently identified and reported to be associated with late-onset AD [Wragg et al., Lancet 347: 509-512, 1996]. The authors found an excess