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DNA Seq. 1999;10(1):1-6.

Isolation and characterization of novel CAG repeat containing genes expressed in human brain.

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Universität Lübeck, Institut für Humangenetik, Lübeck, Germany.


Neurodegenerative diseases may be caused by expansion of triplet repeats in human genes. To identify novel genes with CAG repeats, we screened a human brain cDNA library with an oligonucleotide probe. Four of the isolated cDNAs were sequenced, analyzed for polymorphisms, chromosomal localization, evolutionary conservation and expression. One of the repeats is bi-allelic with 10 triplets (80% of chromosomes) and 7 triplets (20% of chromosomes). In one of the genes two CAG repeats coding for 10 and 17 glutamines are localized in the same reading frame.

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