Phenotype Information and Courses from MediaLab, Inc.
These are the MediaLab courses that cover Phenotype and links to relevant pages within the course.
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| Based on the phenotype of the RBC screening cells, and patient results given below, which of the following antibodies cannot be ruled out: | View Page |
| Based on the phenotype of the RBC screening cells, and patient results given below, which of the following antibodies cannot be ruled out: | View Page |
| Why would a unit of group O blood never be administered to a Bombay patient: | View Page |
| The hh genotype gives rise to: | View Page |
| Match appropriate genotype to its corresponding phenotype: | View Page |
| Which of the following red blood cells contain the most H antigen: | View Page |
| Vancomycin Resistance Vancomycin and ampicillin resistance among Enterococcus species, particularly E. faecium have been on a steady increase.The disk diffusion screening test is used in many laboratories to detect vancomycin resistant strains. Note in the upper photograph that no zone of inhibition is seen around either the vancomycin or the ampicillin disk, indicating resistance to both drugs.Vancomycin-resistant Enterococci (VRE) have been divided into three phenotypes--Van A, Van B, and Van C.Vancomycin-resistant strains of E. faecalis and E. faecium are commonly of the Van A phenotype, demonstrating high level resistance (MIC's higher than 64 ug/mL), as illustrated by total resistance of the test strain in the E test and the VA disk, as illustrated in the lower photograph.The strain shown in the lower photograph, however, is ampicillin susceptible at the level of 1 ug/ml (see lower set of yellow arrows), indicating that this drug may be effective in treating the urinary tract infection. | View Page |
| Illustrated in this photograph is a quadrant plate containing brain heart infusion agar plate supplemented with 6 ug/ml of vancomycin. The right upper quadrant was inoculated with the test strain of Enterococcus faecium. The presence of growth in the inoculated quadrant indicates resistance to vancomycin. | View Page |
| Pharmacogenetics Adverse drug reactions are a leading cause of morbidity and mortality in the United States. Drug metabolism is a process whereby drugs are delivered to the body, distributed, metabolized and then ultimately excreted. As there can be potentially significant differences between patient drug absorption, metabolism and excretion, molecular testing allows a physician to work with a patient's individual phenotype and/or genotype to deliver an optimum pharmaceutical selection and/or dosage. | View Page |
| Use the pull down boxes to match the blood types on the left with the correct phenotype on the right. | View Page |
| Genotyping Through Genetics Those who type as group O must have two O genes present (since both the A and B genes would have produces recognizable antigens, neither of which is present on group O cells). Therefore, in the case of an AB individual or an O individual, we can tell exactly which genes are present, or a genotype. Typing that show persons to be group A or group B reveal only one gene product and thus only a phenotype can be determined. Persons of phenotype A can be genotype AA or AO , while those of phenotype B can be genotypically BB or BO. Family studies may be done to determine the genotype of an A or B individual. Fore example, if the mating of one A and one O parent produced a group O child, the second gene present in the A parent must have been O since the child has inherited one O gene from each parent. | View Page |
| Which of the following genotypes would never result in a group A phenotype? | View Page |
| Immunoglobulin The predominant immunoglobulin class for the B antibodies produced by individuals with group A phenotype and the A antibodies produced by individuals with group B phenotype is IgM. Small quantities of IgG may also be present. IgG is the predominant immunoglobulin for the anti-A and anti-B antibodies found in individuals with group O phenotype. Infants of group O mothers are at higher risk for hemolytic disease of the newborn (HDN) than those born to mothers with group A or B because IgG immunoglobulins readily cross the placenta. IgM molecules do not readily cross the placenta because of their larger size. It is important to note that immune antibodies are usually IgG. Both naturally occurring and immune ABO antibodies are critically important in transfusion since both sensitize and usually hemolyze red cells with the corresponding antigen. | View Page |
| Metabolizers When discussing PGx, we classify a person according to his/her phenotype (metabolic capacity for a given enzyme).A poor metabolizer (PM) is a person who lacks the functional enzyme and therefore exhibits decreased metabolism of drugs. This person would require lower doses of a drug that is metabolized by that enzyme. A PM who receives a standard dose is more likely to experience unwanted side effects or toxicity. A PM can also experience diminished effects with drugs that need to be metabolized to active compounds by the enzyme in question.An ultrarapid metabolizer (UM) will require a higher dose than usual since he/she will eliminate the drug more quickly. A UM may be resistant to standard treatments, and it may take some time to adjust the dosage before therapy is achieved.An intermediate metabolizer (IM) has one wild-type (normal) copy of the gene and one absent or dysfunctional copy. The IM group is very heterogeneous.A person with normal enzyme activity is referred to as an extensive metabolizer (EM). This person should respond to standard dosages of a drug. Most people are EM's. This is the population in which most dosing regimens have been worked out in clinical trials. | View Page |
| Genotype versus Phenotype Genotyping can give us a definitive profile of a given CYP450 enzyme's mutations. But since there are dozens of mutations usually associated with each enzyme, a complete characterization of a CYP450 is not always realistic. Without complete sequencing of the entire allele, it may not be possible to entirely rule out a mutation in a patient who shows none of the more common polymorphisms. If we consider the number of possible mutations and the possible presence of inducing/inhibiting substances, phenotyping for drug metabolism may sound more reasonable than genotyping. | View Page |
| Genotype versus Phenotype Phenotyping involves measuring the metabolism of a probe drug. For example, with CYP2D6, dextromethorphan or debrisoquine can be given to a patient to see how well the drug is metabolized. Both these drugs are safe and extensively metabolized by CYP2D6. By measuring the parent drug and the metabolite in urine, the metabolic capacity of a CYP450 enzyme can be estimated. Such testing is complex and tedious, however, and has not become routine in clinical laboratories. Therefore, genotyping is likely to be the main tool that is used for assessing the PGx of a patient. | View Page |