Promoter Haplotypes and Gene Expression


There is an estimated 0.1% difference between any two human genomes. The differences occur predominantly outside protein‐coding regions and result in, for example, different promoter haplotypes. The generation of a high‐resolution human genomic sequence will allow us to investigate the role of genetic variance in common diseases, which tend to be multifactorial with a non‐Mendelian inheritance.

Keywords: polymorphism; genetics; disease; haplotype; transcription


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Further Reading

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Akey JM, Zhang K, Xiong M, Doris P and Jin L (2001) The effect that genotyping errors have on the robustness of common linkage‐disequilibrium measures. American Journal of Human Genetics 68: 1447–1456.

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Service SK, Ophoff RA and Freimer NB (2001) The genome‐wide distribution of background linkage disequilibrium in a population isolate. Human Molecular Genetics 10: 545–551.

Taylor JG, Choi EH, Foster CB and Chanock SJ (2001) Using genetic variation to study human disease. Trends in Molecular Medicine 7: 507–512.

Ten Asbroek AL, Olsen J, Housman D, Baas F and Stanton Jr V (2001) Genetic variation in mRNA coding sequences of highly conserved genes. Physiology and Genomics 5: 113–118.

Web Links

National Center for Biotechnology Information. single nucleotide polymorphisms Database. NCBI supports the public redistribution of dbSNP by providing zip‐ compressed data dumps in four data formats

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Joosten, Paulus HLJ(Jan 2006) Promoter Haplotypes and Gene Expression. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005968]