Chapter 062 Principles of Human Genetics (Part 22) pot

... pigmental degeneration of the retina, cardiomyopathy 530000 MERRF syndrome: myoclonic epilepsy and ragged- red fibers 545000 Chapter 062. Principles of Human Genetics (Part 22) Inherited ... to reduction of ATP supply, generation of free radicals, and induction of apoptosis. Several syndromic disorders arising from mutations in the mitochondrial genome ar...

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 re...

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 geno...

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 62...

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 th...

Ngày tải lên: 07/07/2014, 01:20

... 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...

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 Geno...

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 pr...

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

... 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 valu...

Ngày tải lên: 07/07/2014, 01:20