Nonuniform recombination within the human beta-globin gene cluster

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 sign...

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Bibliographic Details
Published in:American journal of human genetics 1984-11, Vol.36 (6), p.1239-1258
Main Authors: Chakravarti, A, Buetow, K H, Antonarakis, S E, Waber, P G, Boehm, C D, Kazazian, H H
Format: Article
Language:English
Subjects:
African Continental Ancestry Group
Animals
Continental Population Groups
DNA Restriction Enzymes - metabolism
European Continental Ancestry Group
Genes
Genetics, Population
Globins - genetics
Haploidy
Humans
Mice
Polymorphism, Genetic
Recombination, Genetic
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Summary: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.
ISSN:0002-9297
1537-6605