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1 MIDTERM EXAM 1 100 points total (6 questions) Problem 1. (20
1 MIDTERM EXAM 1 100 points total (6 questions) Problem 1. (20

... Problem 6. (20 points) E. coli strains bearing a mutation of the deoxyadenosine methylase (dam-) show elevated mutation rates relative to wild type cells, owing to a defect in mismatch repair (for reasons discussed in class). However, the production of very high levels of the wild type enzyme in E. ...
Genetic Review 2007 - Wayne State University
Genetic Review 2007 - Wayne State University

... o Enhancers: are regulator elements that govern the level and location of the gene’s expression. o Promoters elements: specify the site of transcription initiation. o Cap site: is where transcription by RNA Polymerase begins. o Introns (non-coding): begin with GT bases and end with AG bases. o All p ...
File - LFHS AP Biology
File - LFHS AP Biology

... A student was given one point for recognizing that an addition or deletion may alter a large portion of the resulting polypeptide. An additional point was given for explaining the importance of where the deletion or addition occurred, and another point for demonstrating knowledge of the frame shift ...
Restriction Fragment Length Polymorphisms (RFLPs)
Restriction Fragment Length Polymorphisms (RFLPs)

... How are RFLPs used to find different loci ? 1. RFLPs can be used as alleles in pedigree analysis. 2. RFLPs can be directly associated with the sequence changes that cause a normal gene to be a mutant allele (e.g. sickle-cell anemia). 3. In most cases an RFLP is used only as a nearby genetic marker t ...
Why organisms age: Evolution ofsenescence under positive pleiotropy? Linköping University Post Print
Why organisms age: Evolution ofsenescence under positive pleiotropy? Linköping University Post Print

... such as mortality or fecundity, are mostly either positive or zero [11,28-30] with only two of these studies [11,29] providing clear evidence for mutations with age-limited effects required by the MA theory. Moreover, in Caenorhabditis elegans, there was a positive genetic correlation between early- ...
Physiological Homeostasis means …………
Physiological Homeostasis means …………

... Ribosome covers 2 codons of mRNA at a time- tRNA carrying the amino acid specific to its anticodon pairs up with codons. Peptide bond joins amino acids on top of tRNAs – the first tRNA is released and the ribosome moves along a codon – process repeated ...
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Specific BRCA1 gene variations amongst young

... incidence of breast cancer has dramatically increased in recent years. In Morocco, breast cancer is the most frequent cancer in women, accounting for 36% of all female cancers. Because there is no national cancer registry in Morocco, breast cancer cases are rarely recorded. However, in the greater a ...
Exam 3 ANSWER KEY Page 1 [10] 1. The proBA genes are required
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... It is also possible to test for mutations that affect different carbon source utilization pathways, but this would require many different types of media to do the initial screen. Note that insertions in different genes will result in different levels of lacZ expression, but you can get different lev ...
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Within- and between-species DNA sequence variation and the

... under a model of free recombination among nucleotide sites and an equilibrium frequency distribution of mutations (Sawyer and Hartl, 1992; Hartl et al., 1994). The configuration of mutations for DNA sequences from a natural population, however, can be affected by population level phenomena, such as ...
Prenatal Diagnosis and Genetic Counseling
Prenatal Diagnosis and Genetic Counseling

... Cystic fibrosis – Cystic fibrosis is tested by examining 32 different mutations in a particular gene. The disorder affects the normal movement of salt in and out of cells that line the lungs and pancreas. This produces a thick, sticky mucus which leads to frequent lung ...
Genetic disorders of pigmentation - Zielinski Fam
Genetic disorders of pigmentation - Zielinski Fam

... loss-of-function mutation of the P gene (15q11.2-q12).39 In mouse, P mutations result in pink-eye dilution phenotype. The P gene encodes a melanosomal membrane that may play a major role in modulating the intracellular transport of tyrosinase and a minor role for Tyrp1.40 Oculocutaneous albinism typ ...
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Ryanodine Myopathies Without Central Cores-Clinical

... that 49% of recessive cases in their study (n ¼ 106) were noncore myopathies. In these patients, histopathologic presentation evolves during the course of the disease and the typical central cores may only appear in later stages.4,7,11 Patient 3 may be an example of such an evolving course where the ...
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A novel duplication in the HOXA13 gene in a family with atypical

... family described here, the skeletal as well as the urogenital abnormalities show variable expression. Interestingly, V.18 carries a mutation but claims to be unaffected. However, phenotype information could only be acquired by telephone interview and she declined further examination. The polyalanine ...
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Sporadic ALS with compound heterozygous mutations in the

... patients with heterozygous SQSTM1 mutations [20]. However, in the LMNs of the present ALS patient with compound heterozygous SQSTM1 mutations, NCIs positive for only p62 were observed, and Bunina bodies were absent. These results suggest that the neuropathological features of ALS with SQSTM1 mutatio ...
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Niemann-Pick disease types A

... of NPD-A and NPD-B result from the inability of the body to break down properly a lipid known as sphingomyelin, which accumulates in various organs in the body.1 Niemann-Pick disease types A and B are also known as acid sphingomyelinase deficiency and belong to a group of diseases called lysosomal s ...
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Protein Synthesis powerpoint

... • Proteins often have a modular architecture with discrete structural and functional regions called domains. • In many cases, different exons code for different domains of a protein. Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings ...
The Genetics of Breast Cancer
The Genetics of Breast Cancer

... Genes control how a cell functions, including how quickly it grows, how often it divides, and how long it lives. To control these functions, genes produce proteins that perform specific tasks and act as messengers for the cell. Therefore, it is essential that each gene have the correct instructions ...
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Quantifying the Slightly Deleterious Mutation Model of Molecular

... A correlation between constraint and a correlate of generation time was first demonstrated by Ohta (1972a), who showed that the ratio of DNA sequence divergence to protein sequence divergence is negatively correlated to generation time across a broad range of animal taxa (mammals and Drosophilids). ...
IB Topics DNA HL
IB Topics DNA HL

... • DNA is unwound by RNA polymerase; • DNA is split into two strands; • mRNA is made by transcription; • promoter region (by start of gene) causes RNA polymerase to bind; • anti-sense / template strand of DNA is transcribed; • direction of transcription is ; • free nucleotide triphosphates used; • co ...
Biological and clinical heterogeneity of breast cancer
Biological and clinical heterogeneity of breast cancer

... phylogenies were identified; spatial constraints most likely limit clonal competition to the immediately neighboring subclones ...
Transcription and Translation
Transcription and Translation

... Prions are the agents that cause mad cow disease (bovine spongiform encephalopathy), chronic wasting disease in deer and elk, scrapie in sheep, and Creutzfeld-Jakob syndrome in humans. These diseases cause neural degeneration. In humans, the symptoms are approximately those of Alzheimer’s syndrome a ...
doc Sample midterm 2
doc Sample midterm 2

... 12. (1 point) Based upon these results, the map distance between the vg and br genes is estimated to be: a. 18.8 map units. b. 31.2 map units. c. 37.5 map units. d. greater than 50 units because all four classes of offspring were observed. e. None of the above. Answer c. Note that the double heteroz ...
Transcription and Translation
Transcription and Translation

... Prions are the agents that cause mad cow disease (bovine spongiform encephalopathy), chronic wasting disease in deer and elk, scrapie in sheep, and Creutzfeld-Jakob syndrome in humans. These diseases cause neural degeneration. In humans, the symptoms are approximately those of Alzheimer’s syndrome a ...
Instructions fro BLAST Alignment of sequences
Instructions fro BLAST Alignment of sequences

... BLAST — Basic Local Alignment Search Tool ...
< 1 ... 80 81 82 83 84 85 86 87 88 ... 302 >

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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