Genotype and phenotype

Sista PR, Melby T, Davison D, Jin L, Mosier S, Mink M, Nelson EL, DeMasi R, Cammack N, Salgo MP, Matthews TJ, Greenberg ML (2004) Characterization of determinants of genotypic and phenotypic resistance to enfuvirtide in baseline and on-treatment HIV-1 isolates. Aids 18 1787-1794... 

Sarrazin C, Kieffer TL, Bartels D, Hanzelka B, Muh U, Welker M, Wincheringer D, Zhou Y, Chu HM, Lin C, WeeginkCJ, ReesinkHW, Zeuzem S, Kwong AD (2007) Dynamic HCV genotypic and phenotypic changes in patients treated with the protease inhibitor telaprevir (VX-950). Gastroenterology 132 1767-1777... 

The ultimate goal of microarray-based expression analysis is to acquire a comprehension of the entire cellular process, in order to exploit and to standardize the multidi-menisional relations between genotype and phenotype. However, an increasingly important parameter, which has not yet been substantially taken into account, is the role of cellular translation. This means that mRNA expression data need to be correlated with the assortment of proteins actually present in the cell. One approach is based on the use of microarrays containing double-stranded DNA probes for the analysis of DNA-protein interaction and, thus, the detection and identification of DNA-binding proteins by means of fluorescence [130] or mass spectrometry analysis [131]. Moreover, substantial efforts are currently under way to develop protein, antibody, or even cell arrays, applicable to the cor-... 

HIV virtual phenotype A database of matching human immunodeficiency virus (HIV) genotypes and phenotypes is developed. When an HIV genotype for a patient is obtained, the database is used to predict the patient s phenotype based on their actual genotype using matches that occur in the database. 

Xie, H. G., Stein, C. M. et al. (1999). Allelic, genotypic and phenotypic distributions of S-mephenytoin 4 -hydroxylase (CYP2C19) in healthy Caucasian populations of European descent throughout the world. Pharmacogenetics, 9(5), 539-49. 

Fig. 1.5 Schematic representation of the evolution of life from its precursors, on the basis of the definition of life given by the authors. If bioenergetic mechanisms have developed via autonomous systems, the thermodynamic basis for the beginning of the archiving of information, and thus for a one-polymer world such as the RNA world , has been set up. Several models for this transition have been discussed. This phase of development is possibly the starting point for the process of Darwinian evolution (with reproduction, variation and heredity), but still without any separation between genotype and phenotype. According to the authors definition, life begins in exactly that moment when the genetic code comes into play, i.e., in the transition from a one-polymer world to a two-polymer world . The last phase, open-ended evolution, then follows. After Ruiz-Mirazo et al. (2004)...

Genotype and Phenotype of Animal and Human Iron Disorders... 

Spire-Vayron de la Moureyre C, De-buysere H, Mastain B et al. Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population. Br J Pharmacol 1998 125 879-887. 

Wennerholm A, Johansson I, Massele AY, Jande M, Alm C, Aden-Abdi Y et al. Decreased capacity for debrisoquine metabolism among black Tanzanians analyses of the CYP2D6 genotype and phenotype. Pharmacogenetics 1999 9 707-714. 

O. Fiehn, Metabolomics The link between genotype and phenotype. Plant Mol. Biol. 78,155 171 (2002). 

Fiehn, O., Metabolomics — the link between genotypes and phenotypes, Plant Mol. Biol., 48, 155, 2002. 

An emerging type of resistance testing known as virtual phenotype predicts phenotypic resistance from the genotype by using pattern recognition that is applied to large relational databases of genotypes and phenotypes. 

Cell Line Source, species, history, characteristics, cloning methods, vectors used, and genotype and phenotype of host cell system... 

If the connection between genotype and phenotype is confirmed, the next steps include sequencing and gene mapping. Generally, genes are classified as (Marsh, 1994) ... 

Tests for the TPMT genotype and phenotype are commercially available. Attention should be paid for those patients who test negative for TPMT status. Patients with poor or intermediate TPMT activity may tolerate only 1/10 to 1/2 of the average 6-MP dose. A pharmacoeconomic model has been developed to analyze the potential cost of screening to prevent azathioprine toxicity. In this model, it was assumed that TPMT deficiency is present in 0.3% of the population, that intermediate activity is present in 11%, and that both groups have an increased risk of developing myelosuppression. Under these circumstances, the model predicted that the costs per Caucasian patient for the first 6 mo of therapy with screening are lower... 

---