Chapter 062. Principles of Human Genetics (Part 28) 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: Introducti...

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... 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...

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... (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...

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... 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...

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... 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 g...

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... 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...

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... 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...

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... Chapter 062. Principles of Human Genetics (Part 9) Nucleic Acid Hybridization Nucleic acid hybridization is a fundamental principle in molecular biology that takes advantage of the ... expression pattern of large numbers of mRNA transcripts can be determined by hybridization of RNA samples to cDNA or genomic microarrays. This method has tremendous potential in...

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... integration of transgene Transgenic Pronuclear injection of transgene Variable copy numbers of transgene Chapter 062. Principles of Human Genetics (Part 10) Transgenic Mice as Models of Genetic ... are relevant to human physiology reflects a surprising conservation of genetic pathways and gene function. Transgenic mouse models have been particularly v...

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... Chapter 062. Principles of Human Genetics (Part 12) The Genetic Map Given the size and complexity of the human genome, initial efforts aimed at ... the identification of disease-causing genes by positional cloning. Recent insights into the structure of the normal human genome show that certain blocks of DNA sequences, often containing numerous ... corres...

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... 64). The application of screening and prevention strategies will Chapter 062. Principles of Human Genetics (Part 13) The Human DNA Sequence The complete DNA sequence of each chromosome provides ... fundamental principles of genetics. The pervasive nature of the role of genetics in medicine makes it imperative for physicians and other health care profes...

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... development, leading to gonadal mosaicism. Chapter 062. Principles of Human Genetics (Part 14) Transmission of Genetic Disease Origins and Types of Mutations A mutation can be defined as ... an important cause of genetic diversity as well as disease. Mutation rates are difficult to determine in humans because many mutations are silent and because testing is o...

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... 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 Method ... 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 affecte...

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... 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 pr...

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... 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 p 2 corresponding to the frequency of AA, 2pq to the frequency of Aa, and q 2 to aa. When the frequency of an allele is known, the frequency of the genotype can b...

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