Abstract
Studies of recombination between the markers D6S291 and D6S109 in individuals by sperm typing provide direct evidence for significant variation in recombination among humans. A statistically significant difference in the recombination fraction (range 5.1%-11.2%) was detected among five donors. This variation could reflect polymorphisms in genes affecting recombination or in chromosome structure. Ignoring this variability in studies designed to examine the relationship between physical and genetic distances could lead to incorrect inferences. Individual variation in recombination makes it difficult to predict the recombination fraction for an interval in any particular individual. This could be important in certain genetic counseling situations.
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- Babron M. C., Constans J., Dugoujon J. M., Cambon-Thomsen A., Bonaïti-Pellié C. The Gm-Pi linkage in 843 French families: effect of the alleles Pi Z and Pi S. Ann Hum Genet. 1990 May;54(Pt 2):107–113. doi: 10.1111/j.1469-1809.1990.tb00366.x. [DOI] [PubMed] [Google Scholar]
- Buetow K. H., Shiang R., Yang P., Nakamura Y., Lathrop G. M., White R., Wasmuth J. J., Wood S., Berdahl L. D., Leysens N. J. A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am J Hum Genet. 1991 May;48(5):911–925. [PMC free article] [PubMed] [Google Scholar]
- Cui X. F., Li H. H., Goradia T. M., Lange K., Kazazian H. H., Jr, Galas D., Arnheim N. Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9389–9393. doi: 10.1073/pnas.86.23.9389. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Donis-Keller H., Green P., Helms C., Cartinhour S., Weiffenbach B., Stephens K., Keith T. P., Bowden D. W., Smith D. R., Lander E. S. A genetic linkage map of the human genome. Cell. 1987 Oct 23;51(2):319–337. doi: 10.1016/0092-8674(87)90158-9. [DOI] [PubMed] [Google Scholar]
- Gedde-Dahl T., Jr, Fagerhol M. K., Cook P. J., Noades J. Autosomal linkage between the Gm and Pi loci in man. Ann Hum Genet. 1972 Apr;35(4):393–399. [PubMed] [Google Scholar]
- Goradia T. M., Stanton V. P., Jr, Cui X. F., Aburatani H., Li H. H., Lange K., Housman D. E., Arnheim N. Ordering three DNA polymorphisms on human chromosome 3 by sperm typing. Genomics. 1991 Jul;10(3):748–755. doi: 10.1016/0888-7543(91)90459-r. [DOI] [PubMed] [Google Scholar]
- Guyer M. S., Collins F. S. How is the Human Genome Project doing, and what have we learned so far? Proc Natl Acad Sci U S A. 1995 Nov 21;92(24):10841–10848. doi: 10.1073/pnas.92.24.10841. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hassold T. J., Sherman S. L., Pettay D., Page D. C., Jacobs P. A. XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet. 1991 Aug;49(2):253–260. [PMC free article] [PubMed] [Google Scholar]
- Hubert R., Weber J. L., Schmitt K., Zhang L., Arnheim N. A new source of polymorphic DNA markers for sperm typing: analysis of microsatellite repeats in single cells. Am J Hum Genet. 1992 Nov;51(5):985–991. [PMC free article] [PubMed] [Google Scholar]
- Laurie D. A., Hultén M. A. Further studies on bivalent chiasma frequency in human males with normal karyotypes. Ann Hum Genet. 1985 Jul;49(Pt 3):189–201. doi: 10.1111/j.1469-1809.1985.tb01693.x. [DOI] [PubMed] [Google Scholar]
- Lazzeroni L. C., Arnheim N., Schmitt K., Lange K. Multipoint mapping calculations for sperm-typing data. Am J Hum Genet. 1994 Sep;55(3):431–436. [PMC free article] [PubMed] [Google Scholar]
- Li H. H., Gyllensten U. B., Cui X. F., Saiki R. K., Erlich H. A., Arnheim N. Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature. 1988 Sep 29;335(6189):414–417. doi: 10.1038/335414a0. [DOI] [PubMed] [Google Scholar]
- MacDonald M. E., Haines J. L., Zimmer M., Cheng S. V., Youngman S., Whaley W. L., Wexler N., Bucan M., Allitto B. A., Smith B. Recombination events suggest potential sites for the Huntington's disease gene. Neuron. 1989 Aug;3(2):183–190. doi: 10.1016/0896-6273(89)90031-7. [DOI] [PubMed] [Google Scholar]
- Park C., Russ I., Da Y., Lewin H. A. Genetic mapping of F13A to BTA23 by sperm typing: difference in recombination rate between bulls in the DYA-PRL interval. Genomics. 1995 May 1;27(1):113–118. doi: 10.1006/geno.1995.1012. [DOI] [PubMed] [Google Scholar]
- Reeves R. H., Crowley M. R., O'Hara B. F., Gearhart J. D. Sex, strain, and species differences affect recombination across an evolutionarily conserved segment of mouse chromosome 16. Genomics. 1990 Sep;8(1):141–148. doi: 10.1016/0888-7543(90)90236-n. [DOI] [PubMed] [Google Scholar]
- Schmitt K., Lazzeroni L. C., Foote S., Vollrath D., Fisher E. M., Goradia T. M., Lange K., Page D. C., Arnheim N. Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis? Am J Hum Genet. 1994 Sep;55(3):423–430. [PMC free article] [PubMed] [Google Scholar]
- Thomsen M., Neugebauer M., Arnaud J., Borot N., Sevin A., Baur M., Cambon-Thomsen A. Recombination fractions in the HLA system based on the data set 'provinces Françaises': indications of haplotype-specific recombination rates. Eur J Immunogenet. 1994 Feb;21(1):33–43. doi: 10.1111/j.1744-313x.1994.tb00174.x. [DOI] [PubMed] [Google Scholar]
- Weitkamp L. R., Cox D., Guttormsen S., Johnston E., Hempfling S. Allelic specific heterogeneity in the Pi:Gm linkage group. Cytogenet Cell Genet. 1978;22(1-6):647–650. doi: 10.1159/000131044. [DOI] [PubMed] [Google Scholar]
- Yoshino M., Sagai T., Lindahl K. F., Toyoda Y., Moriwaki K., Shiroishi T. Allele-dependent recombination frequency: homology requirement in meiotic recombination at the hot spot in the mouse major histocompatibility complex. Genomics. 1995 May 20;27(2):298–305. doi: 10.1006/geno.1995.1046. [DOI] [PubMed] [Google Scholar]
- Zhang L., Cui X., Schmitt K., Hubert R., Navidi W., Arnheim N. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5847–5851. doi: 10.1073/pnas.89.13.5847. [DOI] [PMC free article] [PubMed] [Google Scholar]