Chapter 062 Principles of Human Genetics (Part 14) pps

... 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 of...

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... 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 ... The ongoing refinement of bioinformatics is simplifying the access to this seemingly daunting onslaught of new information. Chapter 062. Principles of Human G...

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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 pr...

Ngày tải lên: 07/07/2014, 01:20

... 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 r...

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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 prese...

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... applied to all 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 ... 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 genoty...

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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 Geno...

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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 re...

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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 geno...

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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 62...

Ngày tải lên: 07/07/2014, 01:20