Genotypes phenotypes

If the genotype-phenotype correlation is sufficiently high, an individual s phenotype can be predicted by the... 

Bernstein, PS, Leppert, M, Singh, N, Dean, M, Lewis, RA, Lupski, JR, Allikmets, R, and Seddon, JM, 2002a. Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci 43, 466 173. 

The truth tables of two Sblocks. (Haddow, P.C. and Tufte, G. [2001] Bridging the genotype-phenotype mapping for digital FPGAs. In proceedings of the Third NASA/DoDWorkshop on Evolvable Hardware, IEEE Computer Society.)... 

Wang, Y., et al. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency lack of genotype-phenotype correlation. Hum. Mutat. 2000, 16, 401-407. 

Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waa-ka R et al. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet 2000 9[10] 1515-1524. 

As SNP discovery technologies become mainstream research tools, the importance of genotype-phenotype relationships will continue to be a focus in pharma-cogenomic research. Not only will characterization of drug transporter polymorphisms enhance our insight of the molecular mechanisms involved in transporter function, it is likely that such findings will become important components of individualized drug therapy in the future. 

Yan L, Zhang S, Eiff B et al. Thiopurine methyltransferase polymorphic tandem repeat genotype-phenotype correlation analysis. Clin Pharmacol Ther 2000 68 210-219. 

Based on the population genotype-phenotype studies performed to date, assays for the molecular diagnosis of TPMT deficiency have focussed on alleles TPMT 2, TPMT 3A and TPMT 3C, as these represent 80-95% of all mutant alleles of this gene in Caucasians [46, 50]. However, the frequency and pattern of mutant alleles of this gene is different among various ethnic populations. For example, Southwest Asians (Indian, Pakistani) have a lower frequency of mutant TPMT alleles and all mutant alleles identified to date are TPMT 3A (Table 24.1) [52]. This is in contrast to Kenyans and Ghanaians where the frequency of mutant alleles is similar to Caucasians, and all mutant alleles are TPMT 3C (Table 24.1) [53, 54]. Among African Americans, TPMT 3C is the most prevalent allele, but TPMT 2... 

Boerkoel, C. F., Takashima, H., Garcia, C. A. et al. Charcot-Marie-Tooth disease and related neuropathies. Mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51 190-201,2002. 

La Spada, A. R., Roling, D. B., Harding, A. E. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 2 301-304,1992. 

This diverse set of biosensing experimental demonstrations illustrates the flexibility of the OFRR device. Nearly any biomolecular recognition event can be detected. The examples illustrated with the previously described experiments include DNA sequence detection and virus detection through surface proteins. Additional biosensing examples for which the OFRR is well-suited include site-specific cleavage, protein-protein interactions, and cell genotype/phenotype identification through receptors. Furthermore, as shown by the theory outlined above, the OFRR can be accurately and precisely quantitative. 

Veenstra and colleagues have identified five criteria for evaluating the cost-effectiveness of pharmacogenomics severity of the outcome avoided, drug monitoring, genotype-phenotype association, assay, and polymor-... 

Studying variation in human genomic sequences may serve two general purposes to characterize genetic population structure and its history and to elucidate the genotype/phenotype relationship in individuals or families. Both aspects are strongly interdependent, and it is only with the advent of new methods of individual sequencing on a mass scale that they become technically feasible. 

Microbial Cell Lines Species, strain, genotype, phenotype, pathogenicity, toxin production, and other biohazard information... 

Gregersen N, Andresen BS, Corydon MJ, Gorydon TJ, Olsen RK, Bolund L, Bross P. Mutation analysis in mitochondrial fatty add oxidation defects Exemplified by acyl-CoA dehydrogenase defidendes, with spedal focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep 18(3) 169-89. Review. PubMed dtation... 

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