Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?

Genet Epidemiol. 1993;10(6):431-5. doi: 10.1002/gepi.1370100617.

Abstract

Analysis of marker segregation in the large Alzheimer pedigree, FAD4, leads to the conclusion, with a type I error of 5%, of linkage heterogeneity between two branches of the pedigree: the disease cosegregates with chromosome 21 markers flanking the APP area in one branch and not in the other one. Thus, we conclude that a single mutation in the chromosome 21 region surrounding APP cannot be responsible for all the affected cases in this pedigree.

MeSH terms

  • Alleles
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Boston / epidemiology
  • Chromosomes, Human, Pair 21
  • Female
  • Gene Frequency
  • Genetic Linkage
  • Genetic Markers
  • Genetic Variation
  • Humans
  • Italy / epidemiology
  • Male
  • Mutation*
  • Pedigree

Substances

  • Genetic Markers