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Chapter 062 Principles of Human Genetics (Part 1) ppsx

Chapter 062. Principles of Human Genetics (Part 1) ppsx

Chapter 062. Principles of Human Genetics (Part 1) ppsx

... (Table 62 -1). The ongoing refinement of bioinformatics is simplifying the access to this seemingly daunting onslaught of new information. Chapter 062. Principles of Human Genetics (Part 1) ... Internal Medicine > Chapter 62. Principles of Human Genetics Impact of Genetics on Medical Practice Impact of Genetics on Medical Practice: Introduction The beginning of the new millennium ... distinct forms of Alzheimer's disease, several of which lead to the formation of neurofibrillary tangles (Chap. 365). The identification of defective genes often leads to the detection of cellular...
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Chapter 062. Principles of Human Genetics (Part 1) pdf

Chapter 062. Principles of Human Genetics (Part 1) pdf

... Bases of Inherited Disease (OMMBID) http:/ /genetics. accessmedicine.com Online version of the comprehensive text on The Metabolic and Molecular Bases of Inherited Disease, 8e Chapter 062. ... on The Metabolic and Molecular Bases of Inherited Disease, 8e Chapter 062. Principles of Human Genetics (Part 1) Table 62-1 Selected Databases Relevant for Genomics and Genetic Disorders ... information of eukaryotic genomes Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim/ Online compendium of Mendelian disorders and human genes causing genetic disorders Office...
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Chapter 062. Principles of Human Genetics (Part 4) ppsx

Chapter 062. Principles of Human Genetics (Part 4) ppsx

... (or linked genes) with the presence of a disease or genetic trait (see below). Chapter 062. Principles of Human Genetics (Part 4) Figure 62-2 Flow of genetic information. Multiple extracellular ... regulation of gene expression through the interaction of transcription factors with regulatory regions of genes. RNA polymerase transcribes DNA into RNA that is processed to mRNA by excision of intronic ... pairs of sister chromatids (2n →4n). The process of DNA synthesis requires stringent fidelity in order to avoid transmitting errors to subsequent generations of cells. Genetic abnormalities of...
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Chapter 062. Principles of Human Genetics (Part 26) ppsx

Chapter 062. Principles of Human Genetics (Part 26) ppsx

... disease genes can be mapped using allelic association studies (Table 62-8). Chapter 062. Principles of Human Genetics (Part 26) Table 62-8 Genetic Approaches for Identifying Disease Genes ... or increase susceptibility to human disease: (1) classic linkage can be performed based on a known genetic model or, when the model is unknown, by studying pairs of affected relatives; or (2) ... disequilibrium specific allelic variants of known candidate loci in the absence of suitable control population Transmission disequilibrium test (TDT) Facilitated...
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Chapter 062. Principles of Human Genetics (Part 28) ppsx

Chapter 062. Principles of Human Genetics (Part 28) ppsx

... contributing to the pathogenesis of common complex disorders remains a great challenge. In many instances, these are low- Chapter 062. Principles of Human Genetics (Part 28) Allelic Association, ... cost and workload (Fig. 62-8). The availability of this information permits the characterization of a limited number of SNPs to identify the set of haplotypes present in an individual, e.g., in ... gene-environment interactions, and the possibility of phenocopies. The HapMap Project is now making genome-wide association studies for the characterization of complex disorders more realistic. Adjacent...
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Chapter 062. Principles of Human Genetics (Part 29) ppsx

Chapter 062. Principles of Human Genetics (Part 29) ppsx

... but the largest genes (Fig. 62-14). Figure 62-14 Chapter 062. Principles of Human Genetics (Part 29) Population Genetics In population genetics, the focus changes from alterations in an ... 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, ... potential implications of positive results, including psychological distress and the possibility of discrimination. The patient or caretakers should be informed about the meaning of a negative result,...
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Chapter 062. Principles of Human Genetics (Part 5) pot

Chapter 062. Principles of Human Genetics (Part 5) pot

... Chapter 062. Principles of Human Genetics (Part 5) Figure 62-3 Crossing-over and genetic recombination. During chiasma formation, either of the two sister chromatids ... sequences upstream (5') of the transcription start site, although there are also examples of control elements within introns or downstream of the coding regions of a gene. The upstream regulatory ... expression profiles, this knowledge may be of diagnostic and therapeutic relevance. The large-scale study of expression profiles, which takes advantage of microarray technologies, is also referred...
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Chapter 062. Principles of Human Genetics (Part 6) potx

Chapter 062. Principles of Human Genetics (Part 6) potx

... deletion mutations of the β-globin gene or larger deletions of the globin locus that can also result in Chapter 062. Principles of Human Genetics (Part 6) The number of DNA sequences and ... Figure 62-5 A. Examples of mutations. The coding strand is shown with the encoded amino acid sequence. B. Chromatograms of sequence analyses after amplification of genomic DNA by polymerase ... proteins bind to E-boxes in the promoters of myogenic genes, and steroidogenic factor 1 (SF -1) binds to a specific recognition site in the regulatory region of multiple steroidogenic enzyme genes....
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Chapter 062. Principles of Human Genetics (Part 7) potx

Chapter 062. Principles of Human Genetics (Part 7) potx

... receptor. Chapter 062. Principles of Human Genetics (Part 7) Transcriptional Activation and Repression Every gene is controlled uniquely, whether in its spatial or temporal pattern of expression ... representative of this group of diseases; mutations in several different islet cell–specific transcription factors cause various forms of MODY (Chap. 338). Table 62-2 Selected Examples of Diseases ... factors account for ~30% of expressed genes. A growing number of identified genetic diseases involve transcription factors (Table 62-2). The MODY (maturity-onset diabetes of the young) disorders...
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Chapter 062. Principles of Human Genetics (Part 8) docx

Chapter 062. Principles of Human Genetics (Part 8) docx

... are widely used in genetics and molecular diagnostics, however, it is useful to review briefly some of the fundamental principles of cloning and DNA sequencing. Cloning of Genes Cloning refers ... DNA A description of recombinant DNA techniques, the methodology used for the manipulation, analysis, and characterization of DNA segments, is beyond the scope of this chapter. As these methods ... events. Suppression of gene expression is as important as gene activation in the control of cell differentiation and function. Some mechanisms of repression are the corollary of activation. For...
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