Population variation analysis at nine loci containing expressed trinucleotide repeats

C. Jodice, B. Giovannone, V. Calabresi, M. Bellocchi, L. Terrenato, A. Novelletto

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)425-438
Number of pages14
JournalAnnals of Human Genetics
Volume61
Issue number5
DOIs
Publication statusPublished - Sep 1997

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Jodice, C., Giovannone, B., Calabresi, V., Bellocchi, M., Terrenato, L., & Novelletto, A. (1997). Population variation analysis at nine loci containing expressed trinucleotide repeats. Annals of Human Genetics, 61(5), 425-438. https://doi.org/10.1017/S0003480097006489