Nonuniform recombination within the human β-globin gene cluster

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

Research output: Contribution to journalArticle

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Abstract

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
Volume36
Issue number6
StatePublished - 1984
Externally publishedYes

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Globins
Multigene Family
Genetic Recombination
DNA
Linkage Disequilibrium
Population Genetics
Population Density
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Chakravarti, A., Buetow, K., Antonarakis, S. E., Waber, P. G., Boehm, C. D., & Kazazian, H. H. (1984). Nonuniform recombination within the human β-globin gene cluster. American Journal of Human Genetics, 36(6), 1239-1258.

Nonuniform recombination within the human β-globin gene cluster. / Chakravarti, A.; Buetow, Kenneth; Antonarakis, S. E.; Waber, P. G.; Boehm, C. D.; Kazazian, H. H.

In: American Journal of Human Genetics, Vol. 36, No. 6, 1984, p. 1239-1258.

Research output: Contribution to journalArticle

Chakravarti, A, Buetow, K, Antonarakis, SE, Waber, PG, Boehm, CD & Kazazian, HH 1984, 'Nonuniform recombination within the human β-globin gene cluster', American Journal of Human Genetics, vol. 36, no. 6, pp. 1239-1258.
Chakravarti A, Buetow K, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH. Nonuniform recombination within the human β-globin gene cluster. American Journal of Human Genetics. 1984;36(6):1239-1258.
Chakravarti, A. ; Buetow, Kenneth ; Antonarakis, S. E. ; Waber, P. G. ; Boehm, C. D. ; Kazazian, H. H. / Nonuniform recombination within the human β-globin gene cluster. In: American Journal of Human Genetics. 1984 ; Vol. 36, No. 6. pp. 1239-1258.
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