Location of Repository

DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees

By Alec J. Jeffreys, Victoria Wilson, Swee Lay Thein, David J. Weatherall and Bruce A.J. Ponder

Abstract

© 1986 by the American Society of Human Genetics. Also available online from PubMed Central (http://www.pubmedcentral.nih.gov)Tandem-repetitive DNA hybridization probes based on a putative human recombination signal detect multiple polymorphic minisatellite fragments in human DNA. The genetic complexity of the resulting\ud individual-specific DNA "fingerprints" was investigated by studying a large sibship affected by neurofibromatosis and a more extensive pedigree segregating for two different hemoglobinopathies. The segregation\ud of up to 41 different heterozygous DNA fragments from each parent could be analyzed in a single sibship, using two different repeat probes. Most of these variable DNA fragments could not be paired as alleles, to an extent which suggests that the DNA fingerprints are together derived from ~ 60 heterozygous loci (~ 120 variable fragments),\ud only a proportion of which can be scored in a given individual. Two or three of the DNA fragments detected by one probe showed\ud tight linkage and may be derived from long minisatellite(s) that are cleaved to produce more than one polymorphic DNA fragment. Excluding allelic and linked DNA fragments, almost all remaining scorable fragments segregated independently, allowing up to 34 unlinked loci to be examined simultaneously. These loci are scattered over most or all of the human autosomes. Minisatellite probes are therefore suitable for rapid marker generation and can be applied to linkage\ud analysis in human pedigrees

Publisher: University of Chicago Press
Year: 1986
OAI identifier: oai:lra.le.ac.uk:2381/452

Suggested articles

Preview

Citations

  1. (1983). A gene controlling foetal haemoglobin expression in adults is not linked to the non-ot-globin cluster.
  2. (1983). AL.: A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234-238, doi
  3. (1985). Construction of linkage maps with DNA markers for human chromosomes. doi
  4. (1983). DJ: Molecular basis of length polymorphism in the human ;-globin gene complex. doi
  5. (1984). DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet 66:1-16, doi
  6. (1979). DNA sequence variants in the G._, AY_, 8- and P-globin genes of man. Cell doi
  7. (1983). DV: Complete nucleotide sequence of the T24 human bladder carcinoma oncogene and its normal homologue. Nature 302:33-37, doi
  8. (1983). Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.
  9. (1980). Gel electrophoresis of restriction fragments. doi
  10. (1983). Linkage analysis of neurofibromatosis (von Recklinghausen disease).
  11. (1968). Linkage scores and corrections in simple two- and three-generation families. Ann Hum Genet 32:127-150, doi
  12. Malignancy in neurofibromatosis.
  13. Methodology in Medical Genetics.
  14. (1969). Progress in mapping human autosomes.
  15. (1980). RW: Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
  16. (1985). SL: Hypervariable "minisatellite" regions in human DNA. doi
  17. (1985). SL: Individual-specific 'fingerprints' of human DNA. doi
  18. (1982). T: The structure of the human zeta-globin gene and a closely linked, nearly identical, pseudogene. Cell 31:553-563, doi
  19. (1982). The New Genetics and Clinical Practice. London, Nuffield Provincial Hospitals Trust, doi
  20. The probable errors of calculated linkage values and the most accurate method of determining gametic from certain zygotic series. doi
  21. (1981). Von Recklinghausen neurofibromatosis. doi
  22. (1982). WJ: The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. doi

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.