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student - Shawnee Science
student - Shawnee Science

... is likely that most sex cells contain gene mutations of some sort. It is now thought that the frequency of new mutations in humans is about 1 for every 10,000 genes per generation. If this number is correct, every individual would be expected to have 2-3 mutations on average. Complicating the pictur ...
Topic: Hereditary breast/ovarian cancer
Topic: Hereditary breast/ovarian cancer

... - Multiple cases of breast and/or ovarian cancer in family, especially o in closely related relatives o in more than one generation, and o when breast cancer is diagnosed before age 50 - A family member with breast cancer diagnosed before age 35; - A family member with both breast and ovarian cancer ...
Integration within Health-care records
Integration within Health-care records

... We have demonstrated the significance of information fusion based tools for bio-geo health care informatics. • As a data warehouse for various data sets involved in bio-geo health care informatics studies. • To provide and demonstrate a set of information fusion tools for disease research. ...
Hereditary vs. Genetic Disorders in Mortality Risk Assessment
Hereditary vs. Genetic Disorders in Mortality Risk Assessment

... examples of diseases that have very high correlation with family history, based upon the genetic nature of the disease. Those include autosomal (dominant and recessive) disorders and those that are associated with mutations on the X chromosome. These latter are referred to as X-linked diseases, and ...
Genes and Mutations 1. Define: Genetics – Genetics may be defined
Genes and Mutations 1. Define: Genetics – Genetics may be defined

... would encode Aspartic acid. If a substitution caused the guanine to be replaced by a pyrimidine (cytosine or thymine), the new codon would encode glutamic acid. 19. Substitutions/ Ultra violet light 20. Ultra violet (UV) light/ deletion 21. Transposons or transposable elements/ translocations (trans ...
inherited cancer screen
inherited cancer screen

... population risk level ...
Genetic Mutations Mutation
Genetic Mutations Mutation

... them to stick to each other. • This pulls RBC’s out of shape into a sickle shape. ...
The spectrum of human diseases
The spectrum of human diseases

... • Also collect from equal number of people without disease • Genotype each individual in subgroups for haplotypes throughout entire genome • Look for association between haplotype and disease phenotype • Association represents linkage disequilibrium • If successful, provides high resolution to narro ...
Chromosome Mutations
Chromosome Mutations

... amount of an organism’s genetic material  When a change in genotype produces a change in phenotype, then the mutation is apparent ...
Study of the evolution of animal parasite bacteria and plant symbionts
Study of the evolution of animal parasite bacteria and plant symbionts

Biological information
Biological information

... Transcriptional control can be modified by the insertion of transposable elements (e.g. Alu sequences) or mutation. ...
Genetics Vocabulary
Genetics Vocabulary

notes
notes

... • Thermus aquaticus (which lives in hot springs) provides DNA polymerase enzyme for PCR • Escherichia coli (which lives in our guts) provides “plasmids” (mini-chromosomes) used in cloning • 100s of bacterial species provide “restriction enzymes” that cut DNA at specific sequences of bases (4 - 8 bas ...
Genetics Review
Genetics Review

... Genes control the layout, make-up and function of the bodies of all organisms. Examples of traits influenced by genes: • Appearance (hair, skin, eyes, height, etc.) • Body structure of an organism • Susceptibility to diseases • Personality traits • Behavior (instincts as well as other behaviors) ...
epigenomics - IES Valldemossa
epigenomics - IES Valldemossa

... RNA Interference technique could epigenetically silence the mutated gene, thus eliminating the translation of the CAG triplet repeat. ...
“Cancer is a genetic disease—that is, it is caused by changes to
“Cancer is a genetic disease—that is, it is caused by changes to

... release chemicals, reactive oxygen species, that are mutagenic for nearby cancer cells ...
Projecting Human Lifespan
Projecting Human Lifespan

... chromosome, which protects the end of the chromosome from deterioration These sequences shorten in length as cell age and make them vulnerable to mutation and death Expanding the length of telomeres with drugs or by gene therapy may be a way of extending lifespan Am J Hum Biol 2011;23:149-67 ...
24. DNA testing
24. DNA testing

... Almost all mutations are single nt changes, 65% of mutations are deletions of 1 or although most common is a 3 nt deletion more exons 5% duplications 30% nonsense or splice site mutations New mutations are very rare New mutations are very frequent Mosaicism not a problem Mosaicism is common; especia ...
Control of Gene Expression and Cancer
Control of Gene Expression and Cancer

... – Contains all genes necessary to develop into entire organisms – Reproductive cloning shows that cells are totipotent ...
Mutations
Mutations

... Germline mutation- happens before meiosis; affects all cells in the new organism Somatic mutation- happens before mitosis; after only immediate daughter cells and their descendents – More severe the earlier it occurs – Creates a mosaic – Can lead to some forms of cancer ...
3687317_mlbio10_Ch14_TestA_3rd.indd
3687317_mlbio10_Ch14_TestA_3rd.indd

... 9. People who are heterozygous for sickle cell disease are generally healthy because they a. are resistant to many different diseases. b. have some normal hemoglobin in their red blood cells. c. are not affected by the gene until they are elderly. d. produce more hemoglobin than they need. 10. If no ...
Lecture 32 Slides
Lecture 32 Slides

... - part of a gene: if functional domain is duplicated --> functional enhancement -complete gene gene dosage enhanced New function can evolve due to relaxed selection on one copy ...
Gene Section MTA3 (metastasis associated 1 family, member 3)
Gene Section MTA3 (metastasis associated 1 family, member 3)

... gene silencing; ELM (Egl-27 and MTA1 homology) domain: unknown function; SANT (SWI3, ADA2, N-CoR and TFIIIB B) domain: putative DNA binding domain; ZnF (GATA-type zinc finger) domain: direct DNA binding domain. ...
Genomic Organization in Eukaryotes
Genomic Organization in Eukaryotes

... vaccine is for use in girls/women, ages 9-26 years. The vaccine is given through a series of three shots over a six-month period. The total cost is approx. $365. • The vaccine is a derivative of a surface protein found in the HPV virus. It launches an immune response, but because it is only a protei ...
Topic 4: Wearing Your Genes Continuous vs. Discrete Variation
Topic 4: Wearing Your Genes Continuous vs. Discrete Variation

... Dominant trait: an inherited trait that shows up in the offspring. Recessive an inherited trait that shows up in the offspring only if both parents passed on the genes for the trait; when mixed with genes for a dominant trait, a recessive trait does not show up in the offspring. Mutations: ​ Mutatio ...
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Oncogenomics



Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.
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