Nonuniform recombination within the human β-globin gene cluster

A. Chakravarti, K. H. Buetow, S. E. Antonarakis, P. G. Waber, C. D. Boehm, H. H. Kazazian

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341 Scopus citations


Population genetic analysis of 15 restriction site polymorphisms demonstrates nonuniform recombination within the human β-globin gene cluster. These DNA polymorphisms show two clusters of high nonrandom associations, one 5' and another 3' to the β-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 β-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 (N(e)) 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 β 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.

Original languageEnglish (US)
Pages (from-to)1239-1258
Number of pages20
JournalAmerican journal of human genetics
Issue number6
StatePublished - Dec 1 1984

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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