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Blood, Vol. 92 No. 11 (December 1), 1998:
pp. 4415-4421
Recombination Breakpoints in the Human  -Globin Gene Cluster
Rachelle A. Smith,
P. Joy Ho,
John B. Clegg,
Judith R. Kidd, and
Swee Lay Thein
From MRC Molecular Haematology Unit, Institute of Molecular Medicine,
John Radcliffe Hospital, Headington, Oxford, UK; Duke University School
of Medicine, Durham, NC; and the Department of Genetics, School of
Medicine, Yale University, New Haven, CT.
The human  -globin gene complex spans a region of 70 kb and
contains numerous sequence variants. These variant sites form a 5
cluster (5 -haplotype) and a 3 cluster (3 -haplotype) with
strong linkage disequilibrium among the sites within each cluster, but
not between the two clusters. The 9-kb region between the 5 and 3
clusters has been estimated to have rates of recombination that are 3 to 30 times normal, and the region has therefore been proposed as a
`hotspot' of recombination. We describe three families with evidence
of meiotic recombination within this `hotspot' of the -globin gene
cluster and in which the cross-over breakpoints have been defined at
the sequence level. In one family, the recombination has occurred in
the maternal chromosome within a region of 361 bp between positions
 911 and 550 5 to the -globin gene. In the other two families,
the recombination has occurred in the paternal chromosome within a
region of approximately 1,100 bp between positions 542 and +568
relative to the -globin gene cap site. Both regions occur within the
2-kb region of replication initiation (IR) in the -globin gene
domain with no overlap. The IR region contains a consensus sequence for
a protein (Pur), which binds preferentially to
single-stranded DNA, a role implicated in recombination events.
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