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The spectrum of human diseases
The spectrum of human diseases

... a, In direct association analysis,all functional variants (red arrows) are catalogued and tested for association with disease. A GeneSNPs image of the CSF2 gene is shown. Genomic features are shown as boxes along the horizontal axis (for example, blue boxes indicate exons). Polymorphisms are shown a ...
LEQ: How do we splice new genes into DNA?
LEQ: How do we splice new genes into DNA?

... Recombinant DNA technology is used to add a human gene for a desired human trait (protein) to the genome of a mammal in such a way that the gene’s products, such as antithrombin (protein that prevents blood clots), are secreted in the milk of the animal; Transgenic mammals allow scientists to model ...
Understanding Heritability and Epigenetics
Understanding Heritability and Epigenetics

... refers to the epigenome. The prefix “epi” means above, while “genome” refers to all of an individual’s genetic information. Thus, the epigenome is information about us that is stored outside of our DNA — just outside of it, as it happens. Specifically, special chemicals called tags can become attach ...
Document
Document

... Due only to COMBINATORIAL diversity In practice, some H + L combinations do not occur as they are unstable Certain V and J genes are also used more frequently than others. There are other mechanisms that add diversity at the junctions between genes - JUNCTIONAL diversity GENERATES A POTENTIAL B-CELL ...
NonMendelian Inheritance PPT
NonMendelian Inheritance PPT

... offspring distinguishes between maternally-inherited and paternallyinherited alleles, and selectively expresses only one of them while inactivating the other. ...
Unit1-Probesweb
Unit1-Probesweb

... Microarrays can be used to study the expression of genes and compare patterns between healthy and unhealthy cells. It is the mRNA from cells which is used to form labelled probes (after it has been copied into single stranded DNA). ...
Genetics BIOL 335 Optional Worksheet 1 solutions 1
Genetics BIOL 335 Optional Worksheet 1 solutions 1

... 4. A mutant E coli has no activity for the enzyme isocitrate lyase. Does this result prove that the mutation is in the gene coding for isocitrate lyase? If not, what other mutations could result in the same phenotype? No, it does not. Mutations that affect gene expression could be involved. For exam ...
Recombination and Genetic Engineering
Recombination and Genetic Engineering

... and the termini tend to be l0 to 40 base pairs in length with perfect or nearly perfect repeats. These sequences also tend to have RNA termination signals as well as nonsense codons in all three reading frames and are therefore polar. Typically they encode one large open reading frame of 300 to 400 ...
Handout
Handout

... The process repeats so that one amino acid is added at a time to the growing polypeptide (which is always anchored to a tRNA bound within the ribosome) The polypeptide continues to grow until the ribosome reaches a stop codon At the stop codon, the polypeptide chain is released from the last tRNA an ...
Overview of Articles for the literature talks Nr PMID Titel Date
Overview of Articles for the literature talks Nr PMID Titel Date

... bottleneck, we used DNase-seq data from 19 diverse human cell types to identify proximal and distal regulatory elements at genome-wide scale. Matched expression data allowed us to separate genes into classes of cell-type-specific up-regulated, down-regulated, and constitutively expressed genes. CG d ...
Pathogen Genomics COURSE
Pathogen Genomics COURSE

... 3.3) The two major outliers appear to suggest that “membrane” proteins and “adhesins” may be important for pathogenesis of E. coli O157:H7. You can use the “Query” function in TaxPlot to highlight other membrane proteins and adhesins in the plot. Q6: Are there other membrane proteins and adhesins t ...
ACTIVITY - genetic factors in aggression File
ACTIVITY - genetic factors in aggression File

... BIOLOGICAL EXPLANATIONS OF AGGRESSION ...
Genes and How They Work
Genes and How They Work

... Genes composed of DNA within the chromosome  Genes code for proteins  DNA is transcribed into RNA  RNA is translated into Protein by ribosomes  Genes regulated by control of RNA production ...
law of independent assortment
law of independent assortment

... When the connection between Mendelian inheritance and chromosomes was first made, it was thought that the normal chromosome number in humans was 48; the correct number of 46 was not established until 1956, 3 years after the correct structure of DNA was proposed. Within a few years it was shown that ...
DNA Technology
DNA Technology

...  DNA library made up of “DNA clones” reconstructed using reverse transcriptase  Must be made from mRNA ...
Nerve activates contraction
Nerve activates contraction

... protein is made? How can you control this? • Gene expression control = which genes are “on” • Levels of control – • 1) chromatin (DNA) packing and chromatin modification change access sites on DNA for RNA Polymerase so that its binding decreases/increases (epigenetics - layer of control above the ge ...
chapter 20: dna technology and genomics
chapter 20: dna technology and genomics

... Viruses can also be used to make a library: pieces of foreign DNA can be inserted into the virus’s genome using a restriction enzyme and ligase. This then is packaged in a capsid and allowed to infect cells. So as the virus’ DNA replicates, so does the foreign DNA of interest. ...
240.1 Caren
240.1 Caren

... have been found in rare tumors. The genes are all, except for CORT, associated with a CpG island in their respective promoter regions. Methylation of CpG islands is a common mechanism for the inactivation of tumor suppressor genes and has been found in a wide range of tumor types. The most common wa ...
SBI4U Ch6- Practice Quiz Fall 2014
SBI4U Ch6- Practice Quiz Fall 2014

... a) If a mutation occurred affecting the operator site such that a component could not bind, what effect on the transcription of structural genes would one observe in the presence and absence of lactose. Clearly state your response to both scenarios. What would be the disadvantage to the organism? (2 ...
PCR - Polymerase Chain Reaction
PCR - Polymerase Chain Reaction

... high melting domain, which is usually artificially created at one end of the molecule by incorporation of a GC clamp. This is accomplished during PCR amplification using a PCR primer with a 5' tail consisting of a sequence of 40 GC. Run DGGE animation here – from http://www.charite.de/bioinf/tgge/ ...
Genetics
Genetics

... • We share several of these with our most recent evolutionary ancestors – There are several thousand in the human genome ...
Epigenetics of Coeliac Disease
Epigenetics of Coeliac Disease

... and environmental factors. • It may translate the effects of risk factors in terms of molecular events. • It is feasable with the recent development of micro arrays/Si RNA knowledge. • There is no data published to date on this topic (pubmed June 2012). ...
PowerPoint file
PowerPoint file

... Every gene start with a start-codon and ends with a stop-codon. An exon cannot consists of more than one stop-codon. Non coding areas (majority usually) has a lot more random behavior than genes. Most of the DNA is non coding. Genes can be detected by some statistics regularities, like codon usage, ...
Multiple Sclerosis Basic Facts Series
Multiple Sclerosis Basic Facts Series

... Genes are the units of heredity discovered by Gregor Mendel more than a century ago. They contain the recipes, or instructions, for making the proteins of which all living things, from bacteria to humans, are built and which all organisms use to carry out their functions. Since the 1970s, scientists ...
Biotechnology and Recombinant DNA
Biotechnology and Recombinant DNA

... -usually inducible promoters are used to allow expression of gene independent of host cell gene expression -e.g. Lac Operon: inducible promoter that can be turned on with IPTG -level of expression can be controlled by concentration of inducer -once expressed (transcription ! translation), gene produ ...
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Human genome



The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%) and bonobos. Humans share 50% of their DNA with bananas.The Human Genome Project produced the first complete sequences of individual human genomes, with the first draft sequence and initial analysis being published on February 12, 2001. The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data are used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance.There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been elucidated.
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