Molecular Biology and Evolution, Vol 16, 1166-1177, Copyright © 1999 by Society for Molecular Biology and Evolution
R Deka, S Guangyun, D Smelser, Y Zhong, M Kimmel and R Chakraborty
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 GST (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
(in 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) GST 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.
ORIGINAL ARTICLE
Rate and directionality of mutations and effects of allele size constraints at anonymous, gene-associated, and disease-causing trinucleotide loci
Department of Environmental Health, University of Cincinnati, USA.
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