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INHERITANCE: BASIC CONCEPTS IN RISK ASSESMENT
INHERITANCE: BASIC CONCEPTS IN RISK ASSESMENT

... a. Pattern of inheritance differs from X-linked (1). Maternal inheritance; mitochondria are derived (by replication independent of nuclear division) from those that are present in the ovum. (2). Male and female offspring have equal chances of being affected. b. Severity of symptoms may be variable. ...
AQA Biology: Genetics, populations, evolution
AQA Biology: Genetics, populations, evolution

... Regulate cell division by coding for growth factors; so cells only divide when necessary/for growth and repair. ...
Document
Document

... you would expect based on phylogeny. The tool we developed investigates this, and is also useful for identifying cross-domain lateral gene transfer events (i.e. Trans - Bacteria, Archaea and Eukarya). Description: Proteins in a given pathogen genome that are more similar to eukaryote proteins than o ...
AQA Biology: Genetics, populations, evolution
AQA Biology: Genetics, populations, evolution

... Regulate cell division by coding for growth factors; so cells only divide when necessary/for growth and repair. ...
Conjugative plasmids are circular pieces of DNA that not only
Conjugative plasmids are circular pieces of DNA that not only

... 3. What was the evidence that suggested to the authors that nes DNA was the target rather than mRNA? How did the authors test this – what trick did they use to change the DNA but not the RNA? 4. Why did the authors also test for interference using transformation? What is the important difference bet ...
Salt-Wasting Congenital Adrenal Hyperplasia: Detection of
Salt-Wasting Congenital Adrenal Hyperplasia: Detection of

... and R357W 5 12.7%. We did not find alleles with the mutation F308insT, and we found three alleles with the cluster E6. The frequency of the mutations analyzed in this study, and the frequencies of the same mutations found in other populations are shown in Table 1. The complete genotype was determine ...
Leukaemia Section ins(9;4)(q33;q12q25) Atlas of Genetics and Cytogenetics in Oncology and Haematology
Leukaemia Section ins(9;4)(q33;q12q25) Atlas of Genetics and Cytogenetics in Oncology and Haematology

... and Rhee, 2010). CDK5RAP2-knockdown cells have increased resistance to paclitaxel and doxorubicin (Zhang et al., 2009). Homozygous mutations in CDK5RAP2 can cause microcephaly (Bond et al., ...
ficient method to localize genes with point mutations
ficient method to localize genes with point mutations

... products of interest. Although we have used chloramphenicol, any selectable marker may be chosen. Furthermore, use of the readily available KanR KEIO collection (Baba et al., 2006) allows for positive selection throughout the process. Gene replacement permits the removal of the KanR marker sequence ...
The Role of RNA
The Role of RNA

... Types of Mutations Mutations are heritable changes in genetic information. There are two categories of mutations: gene mutations and chromosomal mutations. Gene mutations produce changes in a single gene. Point mutations involve only one or a few nucleotides. Substitutions, insertions, and deletions ...
Preformationism and epigenesis
Preformationism and epigenesis

... certain   common   questions   and   certain   shared   thematic   answers,   such   as:   do   both   parents   contribute   equally   to   conception,   or   does   one   parent   have   greater   efficacy   over   the   other?;   what   dete ...
Epigenetics
Epigenetics

... How many genes do we have ? The answer to this question is almost meaningless because: • Each gene can give rise to several proteins by alternative splicing • And each protein can be modified in multiple ways by phosphorylation, methylation, acetylation, glycosylation etc. • These modified proteins ...
HGSS Chapter 23: Schizophrenia and Psychopathology
HGSS Chapter 23: Schizophrenia and Psychopathology

... aka DiGeorge syndrome; increased risk for mental retardation, autism, bipolar disorder, and schizophrenia. • only 6 good CNV studies as of 2010 but evidence for rare CNV deletions in 1q21.1 and 15q13.3 which affect psychosis and other behavioral problems • strong effect, but account for about 1% per ...
NeuroAnatomic and Genetic Approaches to Memory Formation
NeuroAnatomic and Genetic Approaches to Memory Formation

Gene Mutation
Gene Mutation

... A giant chromosome consisting of many identical chromatids lying in parallel register Found in the nuclei of the salivary gland(唾腺) and certain other tissues of the larvae(幼虫) of Drosophila and other two-winged flies The interphase chromosomes go through 10 rounds of replication without ever enterin ...
The Diagnosis of Mitochondrial Diseases
The Diagnosis of Mitochondrial Diseases

... of disorders characterized by defects in mitochondrial function. Because the mitochondrion is the only non-nuclear organelle in the animal cell that contains proteins encoded by its own DNA, inherited defects causing mitochondrial dysfunction can be due to mutations either in nuclear DNA (nDNA) or i ...
probability and genetics
probability and genetics

... - ABO blood types – both alleles are expressed in heterozygotes - When more than 2 alleles exist for a given locus, a “multiple allele system” PROBABILITY AND GENETICS - geneticists use probability to predict outcomes of crosses - the chance that 2 or more independent events will occur together is t ...
Quiz 3 Thursday Answer Key
Quiz 3 Thursday Answer Key

Two Y genes can replace the entire Y chromosome for assisted reproduction in mice
Two Y genes can replace the entire Y chromosome for assisted reproduction in mice

... Because the overall efficiency of ROSI with two Y genes was lower than with regular, fertile mice, the researchers then looked to see whether the addition of other Y genes could improve it. ...
An update on ongoing projects within Biorange SP3.2.2.1
An update on ongoing projects within Biorange SP3.2.2.1

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... available for yeast, humans and plants ...
Chapter 21
Chapter 21

... • Both the three-stage process and the wholegenome shotgun approach were used for the Human Genome Project and for genome sequencing of other organisms • At first many scientists were skeptical about the whole-genome shotgun approach, but it is now widely used as the sequencing method of choice • T ...
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More on microarrays. (2/17)

... neighborhood kernel h. Thus, the SOM functions as a conventional clustering algorithm if the width of the neighborhood kernel is zero. – Whereas in the K-means clustering algorithm the number K of clusters should be chosen according to the number of clusters there are in the data, in the SOM the num ...
Overlapping gene structure of human VLCAD and
Overlapping gene structure of human VLCAD and

... and is transcribed in the opposite direction. DLG4 encodes postsynaptic density-95 (PSD95) protein, which plays critical roles in the formation and maintenance of synaptic junctions. The transcription start site of the VLCAD gene was determined by primer extension analysis and the overlapping struct ...
DNA and RNA Chapter 12
DNA and RNA Chapter 12

... TRANSLOCATION Segment breaks off and joins a different non-homologous chromosome ...
Viral gene therapy
Viral gene therapy

... Given  intratumoral  or  intravenous  with  5-­‐ fluorocytosine   ...
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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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