Xem 1-20 trên 126 kết quả Individual genetic
  • The Navigenics services provide insight into patients’ health risks by determining their individual genetic load for a variety of conditions and medication sensitivities where genetic risk factors are well established. The conditions included in Navigenics’ analysis are those that are clinically actionable and those that contribute to the major burden of disease in the United States, such as myocardial infarction, cancer, and type 2 diabetes.

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  • Population Screening Mass genetic screening programs require tests of high enough sensitivity and specificity to be cost-effective. An effective screening program should fulfill the following criteria: that the tested disorder is prevalent and serious; that it can be influenced presymptomatically through lifestyle changes, screening, or medications; and that identification of risk does not result in undue discrimination or harm.

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  • Molecular analysis is generally more informative if testing is initiated in a symptomatic family member, since the identification of a mutation can direct the testing of other at-risk family members (whether they are symptomatic or not). In the absence of additional familial or environmental risk factors, individuals who test negative for the mutation found in the affected family member can be informed that they are at general population risk for that particular disease. Furthermore, they can be reassured that they are not at risk for passing on the mutation to their children.

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  • Therapeutic Interventions Based on Genetic Risk for Disease Specific treatments are now available for an increasing number of genetic disorders, whether identified through population-based screening or directed testing (Table 64-2). Although the strategies for therapeutic interventions are best developed for childhood hereditary metabolic diseases, these principles are making their way into the diagnosis and management of adult-onset disorders. Hereditary hemochromatosis illustrates many of the issues raised by the availability of genetic screening in the adult population.

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  • This book is about the conservation of genetic diversity of wild plants in situ in their natural surroundings, primarily in existing protected areas but also outside conventional protected areas. A lot of effort has been dedicated to conserving plant biodiversity, but most of this has focused on rare plant communities or individual species threatened with extinction.

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  • Genotypes describe the specific alleles at a particular locus. For example, there are three common alleles (E2, E3, E4) of the apolipoprotein E (APOE) gene. The genotype of an individual can therefore be described as APOE3/4 or APOE4/4 or any other variant. These designations indicate which alleles are present on the two chromosomes in the APOE gene at locus 19q13.2. In other cases, the genotype might be assigned arbitrary numbers (e.g., 1/2) or letters (e.g., B/b) to distinguish different alleles.

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  • Preventive measures and therapeutic interventions are not restricted to metabolic disorders. Identification of familial forms of long QT syndrome, associated with ventricular arrhythmias, allows early electrocardiographic testing and the use of prophylactic antiarrhythmic therapy, overdrive pacemakers, or defibrillators (Chap. 226). Individuals with familial hypertrophic cardiomyopathy can be screened by ultrasound, treated with beta blockers or other drugs, and counseled about the importance of avoiding strenuous exercise and dehydration (Chap. 231).

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  • Figure 62-10 Segregation of alleles. Segregation of genotypes in the offspring of parents with one dominant (A) and one recessive (a) allele. The distribution of the parental alleles to their offspring depends on the combination present in the parents. Filled symbols = affected individuals. Autosomal Dominant Disorders Autosomal dominant disorders assume particular relevance because mutations in a single allele are sufficient to cause the disease.

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  • Population Genetics In population genetics, the focus changes from alterations in an individual's genome to the distribution pattern of different genotypes in the population. In a case where there are only two alleles, A and a, the frequency of the genotypes will be p2 + 2pq + q2 = 1, with p2 corresponding to the frequency of AA, 2pq to the frequency of Aa, and q2 to aa. When the frequency of an allele is known, the frequency of the genotype can be calculated. Alternatively, one can determine an allele frequency, if the genotype frequency has been determined. Allele frequencies vary...

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  • DNA testing is performed by mutational analysis or linkage studies in individuals at risk for a genetic disorder known to be present in a family. Mass screening programs require tests of high sensitivity and specificity to be costeffective. Prerequisites for the success of genetic screening programs include the following: that the disorder is potentially serious; that it can be influenced at a presymptomatic stage by changes in behavior, diet, and/or pharmaceutical manipulations; and that the screening does not result in any harm or discrimination.

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  • Familial Cancer Syndromes A small fraction of cancers occur in patients with a genetic predisposition. In these families, the affected individuals have a predisposing loss-of-function mutation in one allele of a tumor-suppressor gene or caretaker gene. The tumors in these patients show a loss of the remaining normal allele as a result of somatic events (point mutations or deletions), in agreement with the Knudson hypothesis (Fig. 79-3).

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  • Penetrance refers to the proportion of individuals with a mutant genotype that express the phenotype. If all carriers of a mutant express the phenotype, penetrance is complete, whereas it is said to be incomplete or reduced if some individuals do not have any features of the phenotype. Dominant conditions with incomplete penetrance are characterized by skipping of generations with unaffected carriers transmitting the mutant gene.

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  • Allelic Association, Linkage Disequilibrium, and Haplotypes Allelic association refers to a situation in which the frequency of an allele is significantly increased or decreased in individuals affected by a particular disease in comparison to controls. Linkage and association differ in several aspects. Genetic linkage is demonstrable in families or sibships. Association studies, on the other hand, compare a population of affected individuals with a control population.

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  • Population geneticists study the genetic composition and variability of natural populations as well as the theories that explain this variability in terms of natural selection, mutation, recombination, genetic drift and gene flow. Population genetics was first developed among eukaryotes in an attempt to reconcile Darwin’s theory of evolution by natural selection and Mendelian genetics. When Darwin postulated that natural selection is the main force of evolutionary change, a great controversy was created.

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  • This study characterized the human apolipoprotein H [APOH; b2-glycopro-tein I (b2GPI)] promoter and its variants byin vitro functional experiments and investigated their relationship with human plasmab2GPI levels. We examined the individual effects of 12 APOHpromoter single nucleotide polymorphisms in the 5¢ flanking region ofAPOH(1.4 kb) on luciferase activity in COS-1 cells and HepG2 cells and their impact on plasma...

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  • This book presents current topics in genetics in the dermatologic field. Various skin disorders are inherited as mendelian inheritance. Genetic skin disorders are caused by mutations in the genes encoding proteins expressing in skin, skin appendages, melanocytes and immune-associated cells. Identification of genes and elucidation of function of the encoded proteins may provide novel strategies to overcome the disorders.

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  • Human behavioral genetic research aimed at characterizing the existence and nature of genetic and environmental influences on individual differences in cognitive ability, personality and interests, and psychopathology is reviewed.

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  • Chapter 11 - Genome-wide variation and trait analysis. This chapter presents the following content: Genetic variation among individual genomes, single nucleotide polymorphisms (SNPs) and small-scale-length variations, deletions or duplications of a DNA region, positional cloning: from DNA markers to disease-causing genes, genome-wide association studies.

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  • The practice of medicine has a long tradition of making a diagnosis by building up a composite picture of the symptoms and their history, a clinical examination and specialist investigations. A diagnosis enables the course of the disease to be predicted and the appropriate treatment used.However, scientific developments in genetics, by allowing us to detect specific abnormalities in chromosomes and in individual genes, are beginning to throw light on the mechanisms involved at a biochemical and molecular level.

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  • (BQ) Part 2 book "Genetics from genes to genomes" presents the following contents: How genes travel on chromosomes, how genes are regulated, beyond the individual gene and genome. Invite you to consult.

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