Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21.
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.
Kalaitsidaki
M
M
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Cox
T
T
Chakravarti
A
A
Antonarakis
S E
SE
D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009841:Oligonucleotides / Q000235:genetics*; D010375:Pedigree; D010957:Plasmids; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D005819:Genetic Markers; D009841:Oligonucleotides