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 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 17) pdf
... 115150 Chapter 062. Principles of Human Genetics (Part 17) Genotypes describe the specific alleles at a particular locus. For example, there are three common alleles (E2, E3, E4) of the ... involved in the pathogenesis of complex disorders (Table 62 -1). The presence or absence of certain haplotypes may also become relevant for the customized choice of medical therapies (pharmacogenomics) ... focuses on a panel of mutations that are particularly frequent (often taking the ethnic background of the patient into account), but a negative result does not exclude the presence of a mutation...
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Chapter 062. Principles of Human Genetics (Part 27) pdf
... functional consequences, they provide much of the basis for variation in genetic traits. Figure 62-12 Chapter 062. Principles of Human Genetics (Part 27) Genetic Linkage Genetic linkage ... hit" occurs in the normal copy of the MEN1 gene. This somatic mutation may be a point mutation, a microdeletion, or loss of a chromosomal fragment (detected as loss of heterozygosity, LOH). Within ... one can assess transmission of the different MEN1 alleles and compare this pattern to development of the disorder to determine which allele is associated with risk of MEN-1. In the pedigree shown,...
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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 ... 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
... 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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