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1 Characterization of the p.Q189X nonsense mutation in dpy
1 Characterization of the p.Q189X nonsense mutation in dpy

... Unc were possible selected against due to their uncoordinated behavior and short morphology. Thus, there may be strong linkage between the dpy-17 mutant allele and the unc-32 WT allele; there is also strong linkage association between the dpy-17 WT allele and the mutated unc-32 WT allele, thereby re ...
IJBT 10(3) 270-273
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- Free Documents

... Purpose of gene cloning To study genes in the laboratory, it is necessary to have many copies on hand to use as samples for different experiments. Such experiments include Southern or Northern blots, in which genes labeled with radioactive or fluorescent chemicals are used as probes for detecting sp ...
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... fragment containing Atbfructl was identified by screening a genomic library (EMBL3, Clontech, Palo Alto, CA) with a 1kb fragment from a cDNA encoding a cell-wall invertase in D. carota (Sturm and Chrispeels, 1990). The Atbfructl cDNA clone was identified by screening an A. thaliana cDNA library with ...
Nature, Nurture, and the Disunity of Knowledge
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... – A dominant allele is expressed as a phenotype when at least one allele is dominant. – A recessive allele is expressed as a phenotype only when two copies are present. – Dominant alleles are represented by UPPERCASE letters – Recessive alleles by lowercase letters. ...
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Familial juvenile hyperuricemic nephropathy: Detection of mutations

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Genetic Engineering and Gene Technology
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Communiqué of GTTAC meeting of 17 January 2017
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... the dark coat-color phenotype. GENE MUTATION A gene mutation is any change in the DNA sequence of a gene. Gene mutations can change the structure of the resulting protein. A change in protein structure can change, negate, or have no effect on function. There are several types of mutations, and sever ...
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... of gene duplication between the two extremes, including a duplication at f2 0.84. This represents the duplication, at ~80 Ma, whereby yeast gained its ability to ferment sugars found in fruits created by angiosperms. Also noticeable are recent duplications of genes that enable yeast to speed DNA syn ...
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... assays can be used to gain information about how a particular section of DNA drives gene expression in isolation from a chromosomal context. There are advantages and disadvantages associated with using transient analysis. The obvious disadvantage is that promoters do not always behave in the same fa ...
geneticcounseling.pdf
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... Cystic fibrosis (CF) has an autosomal recessive pattern of inheritance. If you are unfamiliar with patterns of inheritance, review the information in the box on the next page. About 1 in 25 Caucasians carry one mutant cystic fibrosis gene. The rate is lower for Hispanics (1 in 40), Blacks (1 in 60), ...
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Suppl Y1 Genetics 20.. - UR - College of Science and Technology
Suppl Y1 Genetics 20.. - UR - College of Science and Technology

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Gene nomenclature

Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. An international committee published recommendations for genetic symbols and nomenclature in 1957. The need to develop formal guidelines for human gene names and symbols was recognized in the 1960s and full guidelines were issued in 1979 (Edinburgh Human Genome Meeting). Several other species-specific research communities (e.g., Drosophila, mouse) have adopted nomenclature standards, as well, and have published them on the relevant model organism websites and in scientific journals, including the Trends in Genetics Genetic Nomenclature Guide. Scientists familiar with a particular gene family may work together to revise the nomenclature for the entire set of genes when new information becomes available. For many genes and their corresponding proteins, an assortment of alternate names is in use across the scientific literature and public biological databases, posing a challenge to effective organization and exchange of biological information. Standardization of nomenclature thus tries to achieve the benefits of vocabulary control and bibliographic control, although adherence is voluntary. The advent of the information age has brought gene ontology, which in some ways is a next step of gene nomenclature, because it aims to unify the representation of gene and gene product attributes across all species.Gene nomenclature and protein nomenclature are not separate endeavors; they are aspects of the same whole. Any name or symbol used for a protein can potentially also be used for the gene that encodes it, and vice versa. But owing to the nature of how science has developed (with knowledge being uncovered bit by bit over decades), proteins and their corresponding genes have not always been discovered simultaneously (and not always physiologically understood when discovered), which is the largest reason why protein and gene names do not always match, or why scientists tend to favor one symbol or name for the protein and another for the gene. Another reason is that many of the mechanisms of life are the same or very similar across species, genera, orders, and phyla, so that a given protein may be produced in many kinds of organisms; and thus scientists naturally often use the same symbol and name for a given protein in one species (for example, mice) as in another species (for example, humans). Regarding the first duality (same symbol and name for gene or protein), the context usually makes the sense clear to scientific readers, and the nomenclatural systems also provide for some specificity by using italic for a symbol when the gene is meant and plain (roman) for when the protein is meant. Regarding the second duality (a given protein is endogenous in many kinds of organisms), the nomenclatural systems also provide for at least human-versus-nonhuman specificity by using different capitalization, although scientists often ignore this distinction, given that it is often biologically irrelevant.Also owing to the nature of how scientific knowledge has unfolded, proteins and their corresponding genes often have several names and symbols that are synonymous. Some of the earlier ones may be deprecated in favor of newer ones, although such deprecation is voluntary. Some older names and symbols live on simply because they have been widely used in the scientific literature (including before the newer ones were coined) and are well established among users.
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