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  • 1
    Digitale Medien
    Digitale Medien
    [s.l.] : Nature Publishing Group
    Nature genetics 2 (1992), S. 255-256 
    ISSN: 1546-1718
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Medizin
    Notizen: [Auszug] Sir — The recent discovery that mutations in the β-amyloid protein cosegregate directly with the disease phenotype in a small number of familial Alzheimer's disease (AD) pedigrees has focused considerable attention on β-amyloid as an aetiological factor in the initiation of the ...
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary The polymorphism affecting codon 4311 of the apolipoprotein B gene (ApoB/4311) was investigated in a large case-control study in two French and one Northern Irish geographically defined populations. Cases were recruited 3 to 9 months after a myocardial infarction (MI) and controls were randomly selected from the population. The polymorphism was assessed using allele-specific oligonucleotides (ASO). The genotype frequencies of the ApoB/4311 polymorphism did not differ in Northern Ireland and France and were in Hardy-Weinberg equilibrium in all groups; strong associations with three other polymorphisms of the ApoB gene (XbaI, EcoRI, VNTR(34 repeats)) were observed and it was possible to identify highly sensitive and specific markers of the ApoB/4311 rare variant. Homozygotes for the ApoB 4311 rare variant were slightly less frequent in cases than in controls: 22 (4.4%) and 35 (6.7%) respectively (population adjusted χ2=3.3 P〈0.07), especially in Belfast: 6 (3.1%) and 12 (7.6%), respectively (P〈0.06). Several lipid and lipoprotein parameters were measured. Consistently among control groups, rare homozygotes had lower mean levels of ApoB (P〈0.02), triglycerides (P〈0.02), and lipoprotein particles containing ApoE and ApoB (LpE:B; P〈0.001) and a higher mean level of lipoprotein particles containing ApoAI and not ApoAII (LpAI; P〈0.02) than heterozygotes and frequent homozygotes combined. The strong association between the ApoB/4311 polymorphism and LpE:B was also observed in patients with MI. When present in the homozygous form, the ApoB/ 4311 Asn→Ser variant is associated with a lipoprotein profile that is apparently favourable.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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