Abstract This paper explains "pharmacogenetics" focuses on genetic polymorphism in drug-metabolizing enzymes and how this is translated into inherited differences in drug effects. "Genetic polymorphism" is defined as the inheritance of a trait controlled by a single genetic locus with at least two alleles in which the least common allele has a frequency of about 1% or greater; furthermore, one of the most extensively studied genetic polymorphisms known to influence drug metabolism and its response is the debrisoquine type (CYP2D6), oxidation polymorphism. The author points out that somatic cell hybrid, in situ hybridization, and linkage mapping made it possible to localize the cytochrome P450 CYP2D6 on the q13.1 position of chromosome 22. The paper relates that racial and ethnic studies of drug metabolism have shown substantial inter-population differences in the metabolism of CYP2D6 genetic material, indicating that these mutations must have occurred once these populations were separated from each other. Many tables and charts.
Table of Contents
Introduction
Mapping
Molecular Genetics
Allelic Variants
Population Genetics
Evolution
Pathogenesis
Techniques
Appendix
From the Paper "With the availability of screening for specific polymorphism in order to get personalized medicine, together with the understanding of the concept of pharmacogenetics and the different reactions it can have depending on some ones genome it would be possible to create new drugs with more powerful and more selective results than before. Doctors will be in the capacity of consulting the patient's genetic profile, anticipating if the patient has the probability of reacting in a certain way to some specific drugs. Probably in a near future the rule will be for each drug to have attached a certain number of examinations for some genome positions to which the drug metabolism could be altered."
Abstract This paper examines how genetic drift occurs when a subset of a population contains different gene frequencies than the larger population because it is a small sample. Over time, evolution and natural selection will work together to make the gene pool of a smaller population different from that of the greater allele distribution. It attempts to show how genetic drift is an important component of evolution and how, together with natural selection, it works to ensure genetic variety in all species.
From the Paper "The Old Order Amish of Pennsylvania mate within their own community, and seldom involve the outside community. This loss of genetic diversity has led to a higher incidence of certain inherited diseases within Amish communities. For example, the founder effect in the Amish settlement has caused a variety of conditions, such as dwarfism and Crigler-Najjar syndrome, where the body can?t break down bilirubin. Maple Syrup Urine Disease is much more common in the Amish, as is Homocystinuria, where an individual's blood vessels are damaged. In the case of polydactyly, where a person has extra digits, the prevalence among the Amish is much higher. ?Today, thanks to large families and restricted marriages, the number of cases of polydactyly among the Amish exceeds the total number in the rest of the world.? (Lewis, 246)."
Abstract This paper explores the working hypothesis that caloric restriction may prevent Alzheimer's disease. In addition, the paper explores the idea that individuals with the ApoE genotype and a higher intake of calories have a higher risk of AD than those who do not carry the apoE4 allele.
From the Paper "Alzheimer's Disease is a form of dementia that is marked by the loss of mental ability and various cognitive functions. The disease usually occurs in old age and is not detectable at birth. (Robinson) There is no consensus on the cause of AD but researchers have found a genetic link in the development of the disorder. The Gale Encyclopedia of Medicine explains that there are various genes that are implicated in AD. One such gene is amyloid precursor protein (APP), which creates amlyloid. When there are mutations in this gene the result is often the early onset of Alzheimer's disease. It is also reported that most individuals that have Down syndrome also develop AD."
