Nonuniform recombination within the human beta-globin gene cluster
- PMID: 6097112
- PMCID: PMC1684633
Nonuniform recombination within the human beta-globin gene cluster
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.
Similar articles
-
Recombination breakpoints in the human beta-globin gene cluster.Blood. 1998 Dec 1;92(11):4415-21. Blood. 1998. PMID: 9834248
-
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137. Proc Natl Acad Sci U S A. 1982. PMID: 6275383 Free PMC article.
-
Identification of a recent recombination event within the human beta-globin gene cluster.Proc Natl Acad Sci U S A. 1984 Dec;81(24):7875-9. doi: 10.1073/pnas.81.24.7875. Proc Natl Acad Sci U S A. 1984. PMID: 6096866 Free PMC article.
-
Use of long sequence alignments to study the evolution and regulation of mammalian globin gene clusters.Mol Biol Evol. 1993 Jan;10(1):73-102. doi: 10.1093/oxfordjournals.molbev.a039991. Mol Biol Evol. 1993. PMID: 8383794 Review.
-
The evolution of the alpha- and beta-globin gene clusters in human populations.Hum Genet. 1986 Sep;74(1):16-23. doi: 10.1007/BF00278779. Hum Genet. 1986. PMID: 3530978 Review.
Cited by
-
Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions.Hum Genet. 1987 Feb;75(2):180-7. doi: 10.1007/BF00591083. Hum Genet. 1987. PMID: 3028933
-
Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).Proc Natl Acad Sci U S A. 1986 Nov;83(22):8457-61. doi: 10.1073/pnas.83.22.8457. Proc Natl Acad Sci U S A. 1986. PMID: 3095836 Free PMC article.
-
Mapping genetic systems by the supratype method.Hum Genet. 1985;70(3):231-5. doi: 10.1007/BF00273447. Hum Genet. 1985. PMID: 3926627
-
Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27.Am J Hum Genet. 1987 Apr;40(4):338-50. Am J Hum Genet. 1987. PMID: 2883890 Free PMC article.
-
Variation at the apolipoprotein (apo) AI-CIII-AIV gene cluster and apo B gene loci is associated with lipoprotein and apolipoprotein levels in Italian children.Am J Hum Genet. 1990 Sep;47(3):429-39. Am J Hum Genet. 1990. PMID: 1975478 Free PMC article.
References
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources