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From DNA to Protein
From DNA to Protein

...  Proteins are made from subunits called amino acids  Hundreds of thousands of different proteins made by all living things are remarkably similar in their construction  All proteins in living things are assembled from only 20 different amino acids The Structure of Proteins  These 20 amino acids ...
Lecture 12 - School of Science and Technology
Lecture 12 - School of Science and Technology

... • At least 3 critical signals/motifs (donor, acceptor and branch sites) should be recognised in order to predict position of an intron and both splice junctions. • Significant sequence variation in these sites between species and different genes negatively affects quality of predictions. • The best ...
this also allows him to have quicker starts and
this also allows him to have quicker starts and

... 1. Determine whether the inherited mutation is helpful, neutral or harmful to the organism and their reproductive success, given the environment in which the organism lives. 2. State why the mutation is helpful or harmful in that ...
LS50B Problem Set #7
LS50B Problem Set #7

... 4. In your experiment, which alleles for each locus did each type of offspring receive from parent 2 (the homozygous parent)? What is the phenotype of parent 2? 5. In your data, which two phenotypes are most common? Which two phenotypes are least common? 6. Based on this data, which alleles are pres ...
LS50B Problem Set #9
LS50B Problem Set #9

... 4. In your experiment, which alleles for each locus did each type of offspring receive from parent 2 (the homozygous parent)? What is the phenotype of parent 2? 5. In your data, which two phenotypes are most common? Which two phenotypes are least common? 6. Based on this data, which alleles are pres ...
The determination of sense organs in Drosophila: a search for
The determination of sense organs in Drosophila: a search for

... genetic network that controls this early stage of sense organ development. we have attempted to identify other genes that might be involved in this operation. The method we have used is the .genedose titration method- based on the idea that changing the gene dosage of two interacting genes may somet ...
Molecular Basis of diseases II - Fahd Al
Molecular Basis of diseases II - Fahd Al

... The drug competes with ATP for its specific binding site in the kinase domain. Thus, whereas the physiologic binding of ATP to its pocket allows Bcr-Abl to phosphorylate selected tyrosine residues on its substrates (left diagram), a synthetic ATP mimic such as STI571 fits this pocket equally well ...
Lecture PPT - Carol Lee Lab
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... Genetic Recombination • Definition: a process by which a molecule of nucleic acid (usually DNA, but can also be RNA) is broken and then joined to a different one. During Eukaryotic Recombination, the crossover process leads to the offspring having different combinations of alleles from those of the ...
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Practical guidelines for molecular testing in Leber congenital
Practical guidelines for molecular testing in Leber congenital

... CEP290, CRB1, CRX, GUCY2D, RDH12, RPE65, and RPGRIP1 have been shown to be implicated in LCA. Additional genes, including TULP1, MERTK, LRAT and IMPDH1 are implicated in LCA-like entities (Table 1). These genes harbour more than 40 % of all LCA mutations. Molecular testing is complicated by this gen ...
A BIT ON DROSOPHILA GENETICS AND NOMENCLATURE
A BIT ON DROSOPHILA GENETICS AND NOMENCLATURE

... Note that both m1 and m2 are recessive so neither parent exhibits a mutant phenotype. However, 25% of the progeny will have the genotype m1m2 and will exhibit a mutant phenotype because they lack wild-type A gene product. What is the genotype and phenotype of the remaining 75% of the progeny? Utiliz ...
Protein Synthesis PowerPoint
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... silent point mutation  Happens when one base in a codon is changed but both code for the same amino acid. ...
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genetic disorder of haemoglobin

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The Compound-Heterozygous Filter
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... lower the kinship of the parents the higher is the chance that two different mutant alleles of the disease-causing gene are present. Hence, this can be translated into a simple rule of thumb: If the parents are nonconsanguineous, compound heterozygosity is the likeliest explanation for a recessive d ...
BHS 116: Physiology Date: 10/16/12, 1st hour Notetaker: Stephanie
BHS 116: Physiology Date: 10/16/12, 1st hour Notetaker: Stephanie

... o The 2 listed directly above are the most dangerous of the possible symptoms - Primary defect in CF results from abnormal function of an epithelial cAMP-dependent chloride channel protein that sits in the epithelial plasma membrane o Encoded for by the CF transmembrane conductance regulator (CFTR) ...
Computational Complexity - 서울대 Biointelligence lab
Computational Complexity - 서울대 Biointelligence lab

... After Selection, pairs of string are picked at random If string length = n, randomly choose a number from 1 to n 1, then use it as a crossover point. GA invokes crossover ONLY IF a randomly generated no > pc . (pc = the crossover rate) ...
CHAPTER 12
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...  Duplications occur when a section of a chromosome is doubled  Fragile X Syndrome caused by an abnormal number of repeats (CCG) results in retardation & long, narrow face which becomes more pronounced with age ...
DNA Workshop - Mrs. Sills` Science Site
DNA Workshop - Mrs. Sills` Science Site

... Click “ok” and match the mRNA nucleotides with their complementary base pairs on the DNA by moving the bases with your mouse over to the DNA. 16. Which nucleotide is found only in RNA? _________________________________________. 17. What is the complementary base pair for this nucleotide? __________ ...
Gene Section WT1 (Wilms' tumor suppressor gene) Atlas of Genetics and Cytogenetics
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... Various types of mutations, mostly affecting zinc fingers in exons 7-10. (WAGR syndrome, genitourinary (GU) anomalies, Denys-Drash-syndrome, Frasier syndrome; see below). ...
Unit V DNA RNA Protein Synthesis
Unit V DNA RNA Protein Synthesis

... corresponding amino acids. Another type of RNA called transfer RNA (tRNA) is needed to bring the mRNA and amino acids together. As the code carried by mRNA is “read” on a ribosome, the proper tRNAs arrive in turn and give up the amino acids they carry to the growing polypeptide chain. The process by ...
SNP_2_JohnGray
SNP_2_JohnGray

... This region overlapped with an interval previously associated with LCA3 Examined region and found 29 genes - one of which was RDH12 - encoding retinol dehydrogenase -expressed in neuroretina These enzymes help covert Vitamin A to 11-cisretinal. Gene has 7 exons and makes a 316 aa protein Could thi ...
Yvonne Gicheru Presentation
Yvonne Gicheru Presentation

... • The mutant Pax2 protein is still able to bind target DNA and transactivate reporter genes but with reduced efficiency • Genetic background effects cause different phenotypes in mice and humans- modifier genes which affect penetrance, dominance and expressivity • Pax2 could be a candidate gene for ...
Test Information Sheet - The University of Chicago Genetic Services
Test Information Sheet - The University of Chicago Genetic Services

... our team of directors and genetic counselors. All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing. The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less than 20 bp. Deletion/duplication analys ...
Ch09 Lecture-DNA and Its Role in Heredity
Ch09 Lecture-DNA and Its Role in Heredity

... Point mutations change single nucleotides. They can be due to errors in replication or to environmental mutagens. Point mutations in the coding regions of DNA usually cause changes in the mRNA, but may not affect the protein. Other mutations result in altered amino acid sequences and have drastic ph ...
Lecture Presentation to accompany Principles of Life
Lecture Presentation to accompany Principles of Life

... Mutations are changes in the nucleotide sequence of DNA that are passed on from one cell, or organism, to another. Mutations occur by a variety of processes. Errors that are not corrected by repair systems are passed on to daughter cells. Mutations are of two types: Somatic mutations occur in somati ...
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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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