Human Genetics

, Volume 114, Issue 4, pp 377–385

Patterns of linkage disequilibrium in the MHC region on human chromosome 6p

  • Annette Stenzel
  • Timothy Lu
  • W. Andreas Koch
  • Jochen Hampe
  • Simone M. Guenther
  • Francisco M. De La Vega
  • Michael Krawczak
  • Stefan Schreiber
Original Investigation

DOI: 10.1007/s00439-003-1075-5

Cite this article as:
Stenzel, A., Lu, T., Koch, W.A. et al. Hum Genet (2004) 114: 377. doi:10.1007/s00439-003-1075-5

Abstract

Single nucleotide polymorphisms (SNPs) in the human genome are thought to be organised into blocks of high internal linkage disequilibrium (LD), separated by intermittent recombination hotspots. Since understanding haplotype structure is critical for an accurate assessment of inter-individual genetic differences, we investigated up to 968 SNPs from a 10-Mb region on chromosome 6p21, including the human major histocompatibility complex (MHC), in five different population samples (45–550 individuals). Regions of well-defined block structure were found to coexist alongside large areas lacking any clear structure; occasional long-range LD was observed in all five samples. The four white populations analysed were remarkably similar in terms of the extend and spatial distribution of local LD. In US African Americans, the distribution of LD was similar to that in the white populations but the observed haplotype diversity was higher. The existence of large regions without any clear block structure renders the systematic and thorough construction of SNP haplotype maps a crucial prerequisite for disease-association studies.

Supplementary material

Supplementary Material

supp.pdf (299 kb)
(PDF 300 KB)

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Annette Stenzel
    • 1
  • Timothy Lu
    • 2
  • W. Andreas Koch
    • 1
  • Jochen Hampe
    • 1
  • Simone M. Guenther
    • 3
  • Francisco M. De La Vega
    • 4
  • Michael Krawczak
    • 2
  • Stefan Schreiber
    • 1
  1. 1.Abteilung für Allgemeine Innere Medizin, Universitätsklinikum Schleswig-HolsteinChristian-Albrechts-Universität KielKielGermany
  2. 2.Institut für Medizinische Informatik und Statistik, Universitätsklinikum Schleswig-HolsteinChristian-Albrechts-Universität KielKielGermany
  3. 3.Applied BiosystemsApplera DeutschlandÜberlingenGermany
  4. 4.Applied BiosystemsUSA