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080701Genes and chromosomes
080701Genes and chromosomes

... X chromosome (45, X) in females. At birth, many babies with Turner syndrome look normal, while some have puffy extremities (lymphoedema) or neck webbing. The main medical problems associated with Turner syndrome are short stature and non-functioning ovaries. Other clinical presentations may include ...
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BIOL 3300
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... Genetics is a required course for majors in the Biology Department and many Agricultural majors as well. This course will provide the basis upon which the student may build in other courses, or in real-life situations. In the laboratory, the student will prepare slides of mitosis, identify the stage ...
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doc Midterm exam

... d.) A large population has a mating system in which first cousins mate. e.) The population is maintained at a size of 20 individuals, and the mutation rate at the locus being examined is zero. Note: Inbreeding in a large population does not lead to loss of genetic variation. It simply reshuffles it ...
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population

... • The Hardy-Weinberg theorem describes a population that is not evolving. • It states that frequencies of alleles and genotypes in a population’s gene pool remain constant from generation to generation, provided that only Mendelian segregation and recombination of alleles are at work. ...
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PROTEIN-SYNTHESIS

... Protein synthesis is the process used by the body to make proteins. The first step of protein synthesis is called Transcription. It occurs in the nucleus. During transcription, mRNA transcribes (copies) DNA. DNA is “unzipped” and the mRNA strand copies a strand of DNA. Once it does this, mRNA leaves ...
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... If this new experiment were to run longer would the end result be the same or different from the original experiment? It would end the same since if the adaptive trait is the recessive gene, the majority of the population would still decline. ...
geneticcounseling.pdf
geneticcounseling.pdf

... their first child soon. A relative of Jeff's died of cystic fibrosis (CF), and he is concerned about the risk of having a child with cystic fibrosis. In cystic fibrosis, the mucus lining the respiratory and gastrointestinal tracts is extremely thick, making it for individuals with this disease to fi ...
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gene patenting webquest - Life Sciences Outreach Program

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protein synthesis worksheet

... Protein synthesis is the process used by the body to make proteins. The first step of protein synthesis is called Transcription. It occurs in the nucleus. During transcription, mRNA transcribes (copies) DNA. DNA is “unzipped” and the mRNA strand copies a strand of DNA. Once it does this, mRNA leaves ...
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Modern Genetics

... dominant allele on the other X chromosome to overpower the recessive X chromosome, labeled (X’). •In males there is not another X chromosome to overpower the recessive one (males are XY), so the recessive phenotype takes over, producing X’Y. Mrs. Degl ...
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Dominant and recessive central core disease associated with

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IMMUNOLOGY ADVANCED

... The fact that there are such a large number of genes that, if mutated, are linked to PIDs just serve to demonstrate how complex the immune system is.  For example, genes involved in the maturation of lymphocyte subsets, such as Btk, RAG-1 and RAG-2 are responsible for immune cytopaenias and result ...
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Phenotypic diversity associated with mitochondrial DNA m

... proportions up to 70% mutation, progressive encephalopathy above 80% and severe Leigh-like syndrome above 95% mutation. One patient did not fit within that frame but presented with characteristics suggesting the presence of an additional disease. ...
A-level Biology B Question paper Unit 2 - Genes and Genetic
A-level Biology B Question paper Unit 2 - Genes and Genetic

... ● The marks for questions are shown in brackets. One mark is awarded for Quality of Written Communication. ● You are reminded of the need for good English and clear presentation in your answers. ● Use accurate scientific terminology in your answers. ● Answers for Questions 1 to 7 are expected to be ...
Genetic Testing for Cystic Fibrosis
Genetic Testing for Cystic Fibrosis

... Use Determine affected or carrier status for the 32 most common CF mutations; determine the presence of the 5T allele. Limitations This assay detects as many as 90% of all the mutations that cause cystic fibrosis. Within specific ethnic groups, there may be higher or lower detection efficiency. Rout ...
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Canine clues: Dog genomes explored in effort to bring

... when there are a lot of mutations to sort through. But not all cancer mutations shared by the two species will necessarily make good drug targets. “It’s just one cog in the wheel of drug discovery, and the extent to which it’s a major innovation will depend on the context,” he says. Of all the work ...
Scoring Matrices: The Arrays Used to Find and Evaluate Protein Homologies
Scoring Matrices: The Arrays Used to Find and Evaluate Protein Homologies

... – Block = ungapped, highly conserved region in a protein family ...
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/+ +/+ +/+ +/+ a +/ b - Molecular and Cell Biology

... make mutations randomly, then you sift through chromosomes (often one at a time) looking for mutant alleles of interest/use ...
Receptor Gene in a Patient with GH Insensitivity Syndrome
Receptor Gene in a Patient with GH Insensitivity Syndrome

... Taken together, not only the G3 T transversion at nucleotide 724 but also the C deletion at nucleotide 981 were essential for the pathogenesis of the patient’s growth failure. It should be determined whether the mutated GHR with the C deletion at 981 is functional or not if it is expressed. The prev ...
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Frameshift mutation



A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein. A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. A frameshift mutation will in general cause the reading of the codons after the mutation to code for different amino acids. The frameshift mutation will also alter the first stop codon (""UAA"", ""UGA"" or ""UAG"") encountered in the sequence. The polypeptide being created could be abnormally short or abnormally long, and will most likely not be functional.Frameshift mutations are apparent in severe genetic diseases such as Tay-Sachs disease and Cystic Fibrosis; they increase susceptibility to certain cancers and classes of familial hypercholesterolaemia; in 1997, a frameshift mutation was linked to resistance to infection by the HIV retrovirus. Frameshift mutations have been proposed as a source of biological novelty, as with the alleged creation of nylonase, however, this interpretation is controversial. A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the catalytic cleft of an ancestral esterase amplified Ald-hydrolytic activity.
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