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PMID: 6097112 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Nonuniform recombination within the human beta-globin gene cluster.

American journal of human genetics ·Vol. 36 ·No. 6 ·1984-11-00 ·Pages 1239-58

Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH

Abstract

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.

MeSH Terms
Animals Blacks DNA Restriction Enzymes/metabolism Genes Genetics, Population Globins/genetics Haploidy Humans Mice Polymorphism, Genetic Racial Groups Recombination, Genetic Whites
Chemicals
Globins DNA Restriction Enzymes
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Chakravarti A
Buetow K H
Antonarakis S E
Waber P G
Boehm C D
Kazazian H H
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28 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1984-11-00
Pages
1239-58
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684633
Subset
IM
Grants
NIADDK NIH HHS · 1R0IAM13983-14 · United States
External Links
PubMed source PMC Full Text View journal details
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