Chapter 062. Principles of Human Genetics (Part 30) ppt

... (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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... (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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 07/07/2014, 01:20

... 15– 31/34–400 AD Ataxi n 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 repea...

Ngày tải lên: 07/07/2014, 01:20

... 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 Dir...

Ngày tải lên: 07/07/2014, 01:20