Human Molecular Genetics, Vol 5, 1767-1775, Copyright © 1996 by Oxford University Press
MA Jobling, V Samara, A Pandya, N Fretwell, B Bernasconi, RJ Mitchell, T Gerelsaikhan, B Dashnyam, A Sajantila, PJ Salo, Y Nakahori, CM Disteche, K Thangaraj, L Singh, MH Crawford and C Tyler-Smith
Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously
been reported as a polymorphism in three males. We describe a survey of
worldwide populations for further instances of this deletion. Of 859 males
tested, 55 (approximately 6%) show absence of the 50f2/C locus; duplication
of the locus was also detected in eight out of 595 males (approximately
1.4%). Populations having the deletion are confined to Asia, Australasia,
and southern and northern Europe; of those of reasonable sample size, Finns
had the highest deletion frequency (55%; n = 21). The deletions vary in
size and the larger ones remove some of the RBM (RNA Binding Motif) genes,
but none of the deletion males lack DAZ (Deleted in AZoospermia), a
candidate gene for the azoospermia factor. On a tree of Y haplotypes, 28
deletion and eight duplication chromosomes fall into six and four
haplotypic groups respectively, each of which is likely to represent an
independent deletion or duplication event. Microsatellite and other
haplotyping data suggest the existence of at least two further classes of
deletion. Thus duplications and deletions in this region of Yq have
occurred many times in human evolution, but remain useful markers for
paternal lineages.
ARTICLES
Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males
Department of Genetics, University of Leicester, UK.
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