-transparent.png){kind=logo}
Population genetic analysis of 15 restriction site polymorphisms demonstrates nonuniform recombination within the human beta-globin gene cluster. These DNA polymorphisms show two clusters of high nonrandom associations, one 5' and another 3' to the beta-globin structural gene, with no significant linkage disequilibrium between the two clusters. The 5'- and 3'-association clusters are 34.6 kilobases (kb) and 19.4 kb long, respectively, and are separated by 9.1 kb of DNA immediately 5' to the beta-globin gene. For each of these three DNA regions, we have observed a relationship between nonrandom associations and physical distance between the polymorphisms. However, this relationship differed for each of these regions. On the assumption that the effective population size (Ne) is 5,000-50,000, we estimate the total recombination rate to be 0.0017%-0.0002% in the 5' cluster, 0.0931%-0.0093% in the 3' cluster, and 0.2912%-0.0219% in the 9.1-kb region between them. The beta cluster thus shows nonuniformity in recombination. Moreover, the recombination rate in the 9.1-kb DNA segment is 3-30 times greater than expected and is thus a hot spot for meiotic recombination.
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
May 1986,
American journal of human genetics,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
December 1984,
Proceedings of the National Academy of Sciences of the United States of America,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
December 1998,
Blood,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
February 1986,
Journal of medical genetics,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
April 1985,
Nucleic acids research,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
January 1996,
Proceedings of the National Academy of Sciences of the United States of America,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
August 1985,
Molecular and cellular biology,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
January 1981,
Human genetics,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
October 2001,
Molecular and cellular biology,
A Chakravarti, and
K H Buetow, and
S E Antonarakis, and
P G Waber, and
C D Boehm, and
H H Kazazian
May 1981,
Nature,
