Polymorphisms, human single nucleotide

Examples of a polymorphism include single nucleotide substitutions, insertions and deletions of nucleotides, and repetitive sequences. While most polymorphisms are harmless and part of normal human genetic variations, studies have established links between certain gene polymorphisms and metabolic alterations or human diseases. 

Sunyaev et al. reveal some of the powers and pitfalls of using ESTs to quantify the amount of human single nucleotide polymorphism. The hope is not only to identify alleles and their combinations that are associated with disease, but also to understand more about recent human evolution. 

Miller, R. D., and P. Y. Kwok. 2001. The birth and death of human single-nucleotide polymorphisms New experimental evidence and implications for human history and medicine. Hum Mol Genet 10 2195-8. 

Hacia J G, et al. (1999). Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat. Genet. 22 164-167. 

To investigate the role of these cytokines in immediate skin reactions in humans, single nucleotide polymorphism (SNP) studies were conducted within small subsets of patients known to have allergies to p-lactams (Guglielmi et al. 2006a Qiao et al. 2007 Yang et al. 2005). SNPs within the IL-4, IL-13, IFN-y, and their respective... 

Bond C, LaForge KS, Tian M, et al Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity possible implications for opiate addiction. Proc Natl Acad Sci U S A 95 9608-9613, 1998 Borron SW, Monier C, Risede P, et al Flunitrazepam variably alters morphine, bu-prenorphine, and methadone lethality in the rat. Hum Exp Toxicol 21 399-603, 2002... 

Genetic data also support a role for CCR2 in atherosclerosis. The human CCR2 gene has a single nucleotide polymorphism (SNP) that results in a Val... 

The International SNP Map Working Group 2001. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001 409 928-933. 

Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet 1999 22 231-238. 

Gray IC et al. Single nucleotide polymorphisms as tools in human genetics. Hum Mol Genet 2000 9 2403-2408. 

Fig. 8.2 Single nucleotide polymorphisms of the human MDR1 gene (compiled from [10, 11, 97]). The locations of the identified polymorphisms (white arrow non-coding polymorphisms black arrow polymorphisms leading to amino acid exchanges) in relation to the exon-intron...

Wang DG, Fan JB, Siao CJ et al. Large-scale identification, mapping, and geno-typing of single-nucleotide polymorphisms in the human genome. Science 1998 280 1077-1082. 

Lai E et al. A 4-Mb high-density single nucleotide polymorphism-based map around human APOE. Genomics 1998 54(1) 31—38. 

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