Chapter 062. Principles of Human Genetics (Part 24) ppt
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
... 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
... (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 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
... 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 ... result in altered expression or splicing of genes. Examples are shown in Fig. 62-5. Figure 62-4 Point mutations causing β-thalassemia as example of allelic heterogeneity. The β-globin gene...
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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
... 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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Chapter 062. Principles of Human Genetics (Part 9) potx
... 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 the era of functional ... and permits comprehensive analyses of gene expression profiles. As one example, microarrays can be used to develop genetic fingerprints of different types of malignancies, providing information...
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Chapter 062. Principles of Human Genetics (Part 10) docx
... 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 valuable, because many human and mouse ... be divided into two main approaches: (1) expression of a gene by random insertion into the genome, and (2) deletion or targeted mutagenesis of a gene by homologous recombination with the native...
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Chapter 062. Principles of Human Genetics (Part 12) pptx
... 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 ... corresponds to ~1 Mb of DNA (Fig. 62-3). Any polymorphic sequence variation can be useful for mapping purposes. Examples of polymorphic markers include variable number of tandem repeats (VNTRs),...
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Chapter 062. Principles of Human Genetics (Part 13) pptx
... 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 professionals to become more informed about genetics ... primary focus of the HGP was to obtain DNA sequence for the entire human genome as well as model organisms. Although the prospect of determining the complete sequence of the human genome seemed...
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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 often not adequate to ... at a rate of ~10–10/bp per cell division. Germline mutation rates (as opposed to somatic mutations) are relevant in the transmission of genetic disease. Because the population of oocytes...
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Chapter 062. Principles of Human Genetics (Part 18) ppt
... of modifier genes, or genetic background, on the effects of a particular mutation. Even in identical twins, in whom the genetic constitution is Chapter 062. Principles of Human Genetics (Part ... part, because of the requirement for a second mutation in the normal copy of the MEN1 gene, as well as the large array of different cell types that are susceptible to the effects of MEN1 gene ... illustrating the phenomenon of variable expressivity. This may include different manifestations of a disorder variably involving different organs (e.g., MEN), the severity of the disorder (e.g.,...
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Chapter 062. Principles of Human Genetics (Part 24) ppt
... 15–31/34–400 AD Ataxin 2 Chapter 062. Principles of Human Genetics (Part 24) Nucleotide Repeat Expansion Disorders Several diseases are associated with an increase in the number of nucleotide repeats ... unstable and tends to expand further during cell division. The length of the nucleotide repeat often correlates with the severity of the disease. When repeat length increases from one generation ... 62-6). The repeats are sometimes located within the coding region of the genes, as in Huntington disease or the X-linked form of spinal and bulbar muscular atrophy (SBMA, Kennedy syndrome). In...
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Chapter 062. Principles of Human Genetics (Part 30) ppt
... microorganisms, resequencing of amplicons Multiplex ligation-dependent probe amplification (MLPA) Quantification of PCR-generated amplicons reflecting the number of copies of a specific DNA sequence ... transcription, amplification of DNA segment →absence or reduction of mRNA transcription Analyze expressed mRNA (cDNA) sequence; detect loss of expression Direct sequencing of PCR products DNA ... amplification Polymerase chain reaction (PCR) Amplification of DNA segment Expansion of triplet repeats, variable number of tandem repeats (VNTR), gene rearrangements, translocations;...
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