Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21

Marianna Kalaitsidaki, Tara Cox, Aravinda Chakravarti, Stylianos E. Antonarakis

Research output: Contribution to journalArticlepeer-review

Abstract

We report the cloning, sequencing, and mapping of three short sequence repeat polymorphisms due to tetranucleotide (TAAA)n repeats from human chromosome 21. These DNA markers (D21S221, D21S225, D21S226) have been cloned from the chromosome 21-specific plasmid library of J. C. Fuscoe, C. C. Collins, D. Pinkel, and J. W. Gray (1989, Genomics 5: 100-109) and were shown to be polymorphic by polymerase chain reaction amplification and polyacrylamide gel electrophoresis. Genotypes were determined in informative CEPH pedigrees and used in linkage analysis relative to other mapped markers on human chromosome 21. One of these markers, D21S221, is closely linked to the amyloid precursor protein gene (APP), which has been implicated in the etiology of familial Alzheimer disease in some families.

Original languageEnglish (US)
Pages (from-to)1071-1075
Number of pages5
JournalGenomics
Volume14
Issue number4
DOIs
StatePublished - Dec 1992

ASJC Scopus subject areas

  • Genetics

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