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Population variation analysis at nine loci containing expressed trinucleotide repeats

Published online by Cambridge University Press:  01 September 1997

C. JODICE
Affiliation:
Department of Biology, University of Rome ‘Tor Vergata’, Italy
B. GIOVANNONE
Affiliation:
Department of Biology, University of Rome ‘Tor Vergata’, Italy
V. CALABRESI
Affiliation:
Department of Biology, University of Rome ‘Tor Vergata’, Italy
M. BELLOCCHI
Affiliation:
Department of Biology, University of Rome ‘Tor Vergata’, Italy
L. TERRENATO
Affiliation:
Department of Biology, University of Rome ‘Tor Vergata’, Italy
A. NOVELLETTO
Affiliation:
Department of Biology, University of Rome ‘Tor Vergata’, Italy
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Abstract

The polymorphisms of nine loci containing reiterated CAG repeats were examined in four populations from three continents. Their normal variation was analysed across populations or in subsets of loci grouped according to either the presence/absence of disease-associated expansions or CAG interruptions. A unifying feature of the allele distributions of all loci in all populations was the marked non-normality. Significantly larger numbers of alleles, average lengths, length ranges and variances in repeat number were observed in loci with vs. without known expansions. Significantly longer alleles were found at loci with vs. without interruption of the (CAG)n motif. The nine loci detected levels of inter-population variability comparable to other loci. Altogether the data are at odds with a model assuming that autosomal expressed trinucleotides accumulate variation exclusively by insertion/deletion of a single unit.

Type
Research Article
Copyright
© University College London 1997

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