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.

Iodice, 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(Pt 5), 425-38 [10.1046/j.1469-1809.1997.6150425.x].

Population variation analysis at nine loci containing expressed trinucleotide repeats

IODICE, CARLA;Bellocchi, M;TERRENATO, LUCIANO;NOVELLETTO, ANDREA
1997-09-01

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.
set-1997
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/18 - GENETICA
English
Con Impact Factor ISI
Male; Nepal; Alleles; Female; Genetic Variation; Italy; Trinucleotide Repeats; Heterozygote; Humans; Gene Expression; Polymorphism, Genetic; Benin; RNA, Messenger; China
Iodice, 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(Pt 5), 425-38 [10.1046/j.1469-1809.1997.6150425.x].
Iodice, C; Giovannone, B; Calabresi, V; Bellocchi, M; Terrenato, L; Novelletto, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/13233
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