Human Molecular Genetics, Vol 5, 1759-1766, Copyright © 1996 by Oxford University Press
G Cooper, W Amos, D Hoffman and DC Rubinsztein
To investigate the utility of Y chromosome microsatellites for studying
human male-lineage evolution, we typed samples from three populations for
five tetranucleotide repeats and an Alu insertion polymorphism. We found
very high levels of haplotype diversity and evidence that most mutations
involve the gain or loss of only one repeat unit, implying that any given
microsatellite haplotype may have arisen independently on two or more
Y-chromosome lineages. Together, these factors suggest that interpretation
of small sample sizes (< 30) will be problematic. By typing a large
sample of individuals (n = 174) from one population, East Anglia, we were
able to construct a haplotype network. The network exhibits a
well-connected core structure of commoner haplotypes. Computer simulations
based on this network estimate the convergence time for African and
Caucasian groups may be between 1.4 and 1.8 times as long as the
convergence of the East Anglian population. Based on our comparison between
large and small sample sizes, we suggest that large sample sizes are
necessary in order to interpret Y-microsatellite haplotypes, and that a
network analysis of the type we describe may prove informative in future
studies.
ARTICLES
Network analysis of human Y microsatellite haplotypes
University of Cambridge, Department of Genetics, UK.
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