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Titolo:
Rate and directionality of mutations and effects of allele size constraints at anonymous, gene-associated, and disease-causing trinucleotide loci
Autore:
Deka, R; Sun, GY; Smelser, D; Zhong, YX; Kimmel, M; Chakraborty, R;
Indirizzi:
Univ Texas, Sch Publ Hlth, Ctr Human Genet, Hlth Sci Ctr, Houston, TX 77225 USA Univ Texas Houston TX USA 77225 enet, Hlth Sci Ctr, Houston, TX 77225 USA Univ Cincinnati, Dept Environm Hlth, Cincinnati, OH 45221 USA Univ Cincinnati Cincinnati OH USA 45221 nm Hlth, Cincinnati, OH 45221 USA Rice Univ, Dept Stat, Houston, TX 77251 USA Rice Univ Houston TX USA 77251 ice Univ, Dept Stat, Houston, TX 77251 USA
Titolo Testata:
MOLECULAR BIOLOGY AND EVOLUTION
fascicolo: 9, volume: 16, anno: 1999,
pagine: 1166 - 1177
SICI:
0737-4038(199909)16:9<1166:RADOMA>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
REPEAT LOCI; CAG REPEAT; HETEROZYGOTE DEFICIENCY; MICROSATELLITE LOCI; HUNTINGTONS-DISEASE; TRIPLET REPEAT; HUMAN BRAIN; POPULATION; DNA; EXPANSION;
Keywords:
trinucleotide diseases; genome location; stepwise mutation; allele size constraint; coalescence;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Agriculture,Biology & Environmental Sciences
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Chakraborty, R Univ Texas, Sch Publ Hlth, Ctr Human Genet, Hlth Sci Ctr, POB 20334, Houston, TX 77225 USA Univ Texas POB 20334 Houston TX USA 77225 ton, TX 77225 USA
Citazione:
R. Deka et al., "Rate and directionality of mutations and effects of allele size constraints at anonymous, gene-associated, and disease-causing trinucleotide loci", MOL BIOL EV, 16(9), 1999, pp. 1166-1177

Abstract

We studied the patterns of within- and between-population variation at 29 trinucleotide loci in a random sample of 200 healthy individuals from four diverse populations: Germans, Nigerians, Chinese, and New Guinea highlanders. The loci were grouped as disease-causing (seven loci with CAG repeats), gene-associated (seven loci with CAG/CCG repeats and eight loci with AAT repeats), or anonymous (seven loci with AAT repeats). We used heterozygosity and Variance of allele size (expressed in units of repeat counts) as measures of within-population variability and G(ST) (based on heterozygosity as well as on allele size variance) as the measure of genetic differentiation between populations. Our observations are: (1) locus type is the major significant factor for differences in within-population genetic variability; (2)the disease-causing CAG repeats tin the nondisease range of repeat counts)have the highest within-population variation, followed by the AAT-repeat anonymous loci, the AAT-repeat gene-associated loci, and the CAG/CTG-repeat gene-associated loci; (3) an imbalance index beta, the ratio of the estimates of the product of effective population size and mutation rate based on allele size variance and heterozygosity, is the largest for disease-causing loci, followed by AAT- and CAG/CCG-repeat gene-associated loci and AAT-repeat anonymous loci; (4) mean allele size correlates positively with allele size variance for AAT- and CAG/CCG-repeat gene-associated loci and negatively for anonymous loci; and (5) G(ST) is highest for the disease-causing loci. These observations are explained by specific differences of rates and patterns of mutations in these four groups of trinucleotide loci, taking into consideration the effects of the past demographic history of the modern human population.

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Documento generato il 01/10/20 alle ore 01:25:53