Construction of Reference Genetic Maps

Kenneth H. Buetow1

1 Fox Chase Cancer Center, Philadelphia, Pennsylvania
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 1.5
DOI:  10.1002/0471142905.hg0105s01
Online Posting Date:  May, 2001
GO TO THE FULL TEXT: PDF or HTML at Wiley Online Library


This unit details the specialized resources and procedures used for constructing reference genetic maps. Construction of such maps in humans represents a subset of the linkage analysis problem. Objectives include the addition of a new locus to an established map, development of a detailed map of loci in a localized area, and construction of de novo maps. Conceptually, the procedures for updating a reference map through the addition of a subset of new loci are similar to those used in establishing linkage for a disease locus. However, construction of new maps of multiple loci is most efficiently accomplished using different family resources that permit the use of accumulated typing resources and alternative, highly efficient statistical methods.

PDF or HTML at Wiley Online Library

Table of Contents

  • Introduction
  • Key Concepts
  • Strategic Approach: Constructing a Reference Map
  • Commentary
  • Literature Cited
PDF or HTML at Wiley Online Library


PDF or HTML at Wiley Online Library



Literature Cited

Literature Cited
   Buetow, K.H. 1991. Influence of aberrant observations on high resolution linkage analysis outcomes. Am. J. Hum. Genet. 49:985‐994.
   Buetow, K.H., Weber, J.L., Ludwigsen, S., Scherpbier‐Heddema, T., Duyk, G.M., Sheffield, V.S., Wang, Z., and Murray, J.C. 1994. Integrated human genome–wide maps constructed using the CEPH reference panel. Nature Genet. 6:391‐393
   Dausset, J., Cann, H., Cohen, D., Lathrop, M., Lalouel, J., and White, R. 1990. Centre d'Étude du Polymorphisme Humain (CEPH): Collaborative genetic mapping of the human genome. Genomics 6:575‐577
   Donis‐Keller, H., Green, P., Helms, C., Cartenhour, S., Weiffenbach, B., Stephens, K., Keith, T.P., Bowden, D.W., Smith, D.R., and Lander, E.S. 1987. A genetic linkage map of the human genome. Cell 51:319‐337
   Edwards, J.H. 1987. The locus ordering problem. Ann. Hum. Genet. 51:251‐258
   Elston, R.C. and Stewart, J. 1971. A general model for the analysis of pedigree data. Hum Hered. 21:523‐542
   Goldgar, D.E. and Fain, P.R. 1986. Multipoint analysis of chromosome 11p markers. Genet. Epidemiol. Supplement. 1:141‐146
   Keats, B., Ott, J., and Conneally, M. 1989. Report of the committee on linkage and gene order. Cytogenet. Cell. Genet. 51:459‐502
   Kouri, R.E. and Fain, P.R. 1990. Meiotic mapping panels: An efficient strategy for genetic mapping. Am. J. Hum. Genet. 47:A186
   Lander, E.S. and Green, P. 1987. Construction of multilocus genetic linkage maps in humans. Proc. Natl. Acad. Sci. U.S.A. 84:2363‐2367
   Lander, E.S., Green, P., Abrahamson, J., Barlow, A., Daly, M.J., Lincoln, S.E., and Newburg, L. 1987. MAPMAKER: An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics. 1:174‐181
   Lathrop, G.M., Lalouel, J.‐M., Julier, C., and Ott, J. 1984. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. U.S.A. 81:3443‐3446
   Lathrop, G.M., Lalouel, J.‐M., and White, R.L. 1986. Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis. Genet. Epidemiol. 3:39‐52
   Lathrop, G.M., Nakamura, Y., Cartwright, P., O'Connell, P., Leppert, M., Jones, C., Tateishi, H., Bragg, T., Lalouel, J.‐M., and White, R. 1988. A primary genetic map of markers for human chromosome 10. Genomics. 2:157‐164
   Tanzi, R.E., Haines, J.L., Watkins, P.C., Stewart, G.D., Wallace, M.R., Hallewell, R., Wong, C., Wexler, N.S., Conneally, P.M., and Gusella, J.F. 1988. Genetic linkage map of human chromosome 21. Genomics 3:129‐136
   Thompson, E.A. 1986. A scoring method for multi‐point linkage analysis: Application to the Utah 11‐p data. Genet. Epidemiol. Supplement. 1:171‐176
   Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morisette, J., Millasseau, P., Vaysseix, G., and Lathrop, M. 1992. A second‐generation linkage map of the human genome. Nature 359:794‐801
   White, R., Leppert, M., Bishop, D.T., Barker, D., Berkowitz, J., Brown, C., Callahan, P., Holm, T., and Jerominski, L. 1985. Construction of linkage maps with DNA markers for human chromosomes. Nature. 313:101‐105
   White, R.L., Lalouel, J.‐M., Nakamura, Y., Donis‐Keller, H., Green, P., Bowden, D.W., Mathew, C., Easton, D.F., Robson, E.B., Morton, N.E., Gusella, J.F., Haines, J.L., Retief, A.E., Kidd, K.K., Murray, J.C., Lathrop, G.M., Cann, H.M. 1990. The CEPH consortium primary linkage map of human chromosome 10. Genomics. 6:393‐412
   Wong, Z., Wilson, V., Patel, I., Povey, S., and Jeffreys, A.J. 1987. Characterization of a panel of highly variable minisatellites cloned from human DNA. Ann. Hum. Genet. 51:269‐288
PDF or HTML at Wiley Online Library