Susceptibility Genes: Detection

Nicola J White, GlaxoSmithKline, Stevenage, UK
John H Riley, GlaxoSmithKline, Stevenage, UK

Published online: January 2006

DOI: 10.1038/npg.els.0005557

Complex disorders result from the interaction of multiple susceptibility genes with diverse environmental factors. Identification of susceptibility genes is a challenging process; however, the publication of the human genome sequence and a wealth of data on Single nucleotide polymorphisms will greatly facilitate this process.

Keywords: complex disease; polymorphism; linkage; association; linkage disequilibrium

Figure 1. Genetic disorders and the environment.
Figure 2. Flow chart for detection of susceptibility genes.
Figure 3. Identification of a susceptibility gene for migraine. (a) Locus identification. Microsatellite markers were used to identify a linked locus on chromosome 19. (b) Locus construction. The vertical bar represents the linked region on chromosome 19. Horizontal bars on this represent SNP markers. Vertical lines represent large genomic clones. The thick vertical bars represent positional candidate genes. The stars represent SNP markers showing association with migraine. SNP markers are labeled in roman type and microsatellite markers in italics. (c) Susceptibility gene. The insulin receptor (INSR) is a potential susceptibility gene for migraine with five associated SNPs.
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 Further Reading
    Cardon LR and Bell JI (2001) Association study designs for complex diseases. Nature Reviews Genetics 2: 91–99.
    Kwok P (2001) Methods for genotyping single nucleotide polymorphisms. Annual Reviews of Genomics and Human Genetics 2: 235–258.
    Montagna P (2000) Molecular genetics of migraine headaches: a review. Cephalalgia 20: 3–14.
    Risch NJ (2000) Searching for genetic determinants in the new millennium. Nature 405: 847–856.
    book Strachan T and Read AP (1999) Human Molecular Genetics 2. Oxford, UK: BIOS Scientific Publishers.
    Stumpf MPH (2002) Haplotype diversity and the block structure of linkage disequilibrium. Trends in Genetics 18: 226–228.
 Web Links
    ePath The SNP Consortium Ltd (TSC). Single nucleotide polymorphisms for biomedical research http://snp.cshl.org/
    ePath National Center for Biotechnology Information (NCBI). Repository for databases of genomic information, related literature and data-mining tools for researchers http://www.ncbi.nlm.nih.gov/
    ePath Ensembl. Automatically tracks, assembles and displays (human) genomic sequence including related feature such as genes http://www.ensembl.org/
    ePath Golden Path. Displays current progress on human genome sequencing and enables detailed searching of human genome sequence information http://genome.ucsc.edu/
    ePath Human Genome Project information. Provides information on the aims and progress of the Human Genome Project http://www.ornl.gov/hgmis/
    ePath Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A); Locus ID: 773. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=773
    ePath Insulin receptor (INSR); Locus ID: 3643. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3643
    ePath Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A); MIM number: 601011. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601011
    ePath Insulin receptor (INSR); MIM number: 147670. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147670

Related Sub-Topics:

Molecular Genetics of Common and Complex Disease | Techniques and Tools in Clinical Genetics | Linkage Analysis | Statistical Methodology in Genetics | Gene Mapping by Disease Association
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Article Title: Susceptibility Genes: Detection
 
How to Cite close
White, Nicola J, and Riley, John H(Jan 2006) Susceptibility Genes: Detection. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005557]