Human genome variation

Human Genome Variation Society. Alzheimer Disease Frontotemporal Dementia Mutation Database. Available on line at www.molgen.ua.ac.be/ADMutations/. 

Sequence variance portal Human Genome Variation Society (HGVS) http //www.genomic.unimelb.edu.au/mdi/ Links sequence variation databases... 

Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA (2010) A map of human genome variation from population-scale sequencing. Nature 467 1061-1073... 

Human Genome Variations Society. URL http //www.genomic. unimelb.edu.au/mdi/. Formerly HUGO Mutation Database Initiative. 

Human Genome Variation Database (HGVbase) hgvbase.cgb.ki.se Genotype/phenotype associations... 

Sachidanandam R, Weissman D, Schmidt S C, et al. (2001). A map of human genome variation containing 1.42 million single nucleotide polymorphisms. Nature 409 928-933. 

Essential to the definition of Pharmacogenetics is the term genetic polymorphism. It is extrapolated that there are at least three million genetic polymorphisms in the human genome. Historically, a genetic polymorphism was defined as a genetic variation with a population frequency of 1% and above, but the larger inter-ethnic variation of population frequencies makes a strict definition based on such frequencies impractical. The most common molecular type of polymorphism is the... 

The functions of a large proportion of the proteins encoded by the human genome are presently unknown. Recent advances in bioinformatics permit researchers to compare amino acid sequences to discover clues to potential properties, physiologic roles, and mechanisms of action of proteins. Algorithms exploit the tendency of nature to employ variations of a structural theme to perform similar functions in several proteins (eg, the Rossmarm nucleotide binding fold to bind NAD(P)H,... 

There is a normal variation of DNA sequence just as is true of more obvious aspects of human structute. Variations of DNA sequence, polymorphisms, occur approximately once in evety 500 nucleotides, or about 10 times per genome. There are without doubt deletions and insertions of DNA as well as single-base substitutions. In healthy people, these alterations obviously occur in noncoding regions of DNA or at sites that cause no change in function of the encoded protein. This heritable polymorphism of DNA structure can be associated with certain diseases within a large kindred and can be used to search for the specific gene involved, as is illustrated below. It can also be used in a variety of applications in forensic medicine. 

Lloyd, E. A. (1994), Normality and variation The Human Genome Project and the ideal human type , in C. F. Cranor (Ed ), Are Genes Us The Social Consequences of the New Genetics, Rutgers University Press, Piscataway, NJ, pp. 99-112. 

Sing CF, Haviland MB, Reilly SL. Genetic architecture of common multifactorial diseases. In. Variation in the human genome. Ciba Foundation Symposium 197. Wiley Chichester. 1996 211-232. 

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