Linkage of familial Alzheimer disease to chromosome 14 in two large early- onset pedigrees: Effects of marker allele frequencies on lod scores

A. Nechiporuk, P. Fain, E. Kort, L. E. Nee, E. Frommelt, R. J. Polinsky, J. R. Korenberg, S. M. Pulst

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. In addition to sporadic forms of AD, familial forms (FAD) have been recognized. Mutations in the amyloid precursor protein (APP) gene on chromosome (CHR) 21 have been shown to cause early-onset AD in a small number of pedigrees. Recently, linkage to markers on CHR 14 has been established in several early-onset FAD pedigrees. We now report lod scores for CHR 14 markers in two large early-onset FAD pedigrees. Pairwise linkage analysis suggested that in these pedigrees the mutation is tightly linked to the loci D14S43 and D14S53. However, assumptions regarding marker allele frequencies had a major and often unpredictable effect on calculated lod scores. Therefore, caution needs to be exercised when single pedigrees are analyzed with marker allele frequencies determined from the literature or from a pool of spouses.

Original languageEnglish (US)
Pages (from-to)63-66
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume48
Issue number1
DOIs
StatePublished - Jan 1 1993

Keywords

  • genetic linkage analysis
  • human chromosome 14
  • mutations
  • pairwise linkage analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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