Educational Items Section Apparently balanced structural chromosome rearrangements (ABSCRs) and abnormal phenotype
... duplications and copy number variants in the 200 Kb window around and within the breakpoints. ...
... duplications and copy number variants in the 200 Kb window around and within the breakpoints. ...
PCR
... Diabetes caused by mutations in the HNF1A (encoding hepatocyte nuclear factor-1 alpha) and GCK4 (encoding glucokinase 4) genes is one of the most common types of maturity onset diabetes of the young (MODY). HNF1α is a transcription factor that is important for the normal development of beta cells. M ...
... Diabetes caused by mutations in the HNF1A (encoding hepatocyte nuclear factor-1 alpha) and GCK4 (encoding glucokinase 4) genes is one of the most common types of maturity onset diabetes of the young (MODY). HNF1α is a transcription factor that is important for the normal development of beta cells. M ...
central dogma of molecular biology - Rose
... 5) RNase H degrades the RNA primer in preparation for synthesis of the next fragment. Mistakes The replication DNA polymerase is highly specific, but occasionally it adds the incorrect base (this is more common if the cell contains excessive amounts of one dNTP during DNA synthesis). The incorporati ...
... 5) RNase H degrades the RNA primer in preparation for synthesis of the next fragment. Mistakes The replication DNA polymerase is highly specific, but occasionally it adds the incorrect base (this is more common if the cell contains excessive amounts of one dNTP during DNA synthesis). The incorporati ...
AS 09 Genetic Engineering.pps237.5 KB
... During the process of hormone manufacture by genetic engineering, human RNA is extracted and converted to single stranded DNA by treatment with ....................................... . This is then treated with ................................................... to produce double stranded (double h ...
... During the process of hormone manufacture by genetic engineering, human RNA is extracted and converted to single stranded DNA by treatment with ....................................... . This is then treated with ................................................... to produce double stranded (double h ...
What is DNA sequencing
... Both the Maxam-Gilbert and Sanger-Coulson methods can only produce about 400 bases of sequence at a time. Most genes are larger than this. To sequence a large DNA molecule it is cut up (using two or more different restriction enzymes) into different fragments and each fragment is sequenced in turn 1 ...
... Both the Maxam-Gilbert and Sanger-Coulson methods can only produce about 400 bases of sequence at a time. Most genes are larger than this. To sequence a large DNA molecule it is cut up (using two or more different restriction enzymes) into different fragments and each fragment is sequenced in turn 1 ...
polymorphism
... double stranded DNA molecule, and contains millions of nucleotides (A’s, T’s, G’s and C’s). The pattern of these A’s, T’s, G’s and C’s form the complete human genome. It is currently estimated that the ...
... double stranded DNA molecule, and contains millions of nucleotides (A’s, T’s, G’s and C’s). The pattern of these A’s, T’s, G’s and C’s form the complete human genome. It is currently estimated that the ...
Cell with DNA containing gene of interest
... cuts in one place, opening the circle 4. DNA with the target gene is treated with the same enzyme and many fragments are produced 5. Plasmid and target DNA are mixed and associate with each other ...
... cuts in one place, opening the circle 4. DNA with the target gene is treated with the same enzyme and many fragments are produced 5. Plasmid and target DNA are mixed and associate with each other ...
Mitochondrial DNA Analysis
... • Exist in both hypervariable regions • Sequencing after the C-Stretch is very difficult • Causes strand slippage for DNA polymerase • Becomes “out of phase” between two strands – sequences cannot be aligned • Need to re-sequence this region ...
... • Exist in both hypervariable regions • Sequencing after the C-Stretch is very difficult • Causes strand slippage for DNA polymerase • Becomes “out of phase” between two strands – sequences cannot be aligned • Need to re-sequence this region ...
power point
... • This is important for 2 reasons: – It is a standard or control (i.e. important for Daubert challenges) – one needs to argue that the same amount of DNA is used in each lab, by each lab technician and every time sample is processed – The amount has been optimized for subsequent reactions – so it en ...
... • This is important for 2 reasons: – It is a standard or control (i.e. important for Daubert challenges) – one needs to argue that the same amount of DNA is used in each lab, by each lab technician and every time sample is processed – The amount has been optimized for subsequent reactions – so it en ...
Biotech_Presentation_Honors
... To separate and visualize the fragments produced by PCR, gel electrophoresis would be carried out This technique uses a gel made of a polymer to separate a mixture of nucleic acids or proteins based on size, charge, or other physical properties Running our PCR product through the gel helps to ...
... To separate and visualize the fragments produced by PCR, gel electrophoresis would be carried out This technique uses a gel made of a polymer to separate a mixture of nucleic acids or proteins based on size, charge, or other physical properties Running our PCR product through the gel helps to ...
chromosome disorders.
... FISH • This diagnostic tool combines conventional cytogenetics with molecular genetic technology. • The DNA probe s labeled with a fluorochrome which, after hybridization with the patient’s sample allows the region where hybridization occurred to be visualized using fluorescence microscope. ...
... FISH • This diagnostic tool combines conventional cytogenetics with molecular genetic technology. • The DNA probe s labeled with a fluorochrome which, after hybridization with the patient’s sample allows the region where hybridization occurred to be visualized using fluorescence microscope. ...
T - Crime Scene
... in just the 13 CODIS loci. Therefore, these regions, and only these regions, need to be magnified for analysis, and the polymerase chain reaction (PCR) is used as a molecular Xerox machine just for this purpose. •PCR employs the use of primers, which are short pieces of single stranded DNA complemen ...
... in just the 13 CODIS loci. Therefore, these regions, and only these regions, need to be magnified for analysis, and the polymerase chain reaction (PCR) is used as a molecular Xerox machine just for this purpose. •PCR employs the use of primers, which are short pieces of single stranded DNA complemen ...
Isolation and Purification of Nucleic Acids
... Digest DNA with a restriction enzyme. Resolve the fragments by gel electrophoresis. The number of bands indicates the number of ...
... Digest DNA with a restriction enzyme. Resolve the fragments by gel electrophoresis. The number of bands indicates the number of ...
Chapter 20
... This method synthesizes a nested set of DNA strands complementary to the original DNA fragment. Each strand starts with the same primer and ends with a dideoxyribonucleotide (ddNTP), a modified nucleotide. Incorporation of a ddNTP terminates a growing DNA strand because it lacks a 3—OH group, the s ...
... This method synthesizes a nested set of DNA strands complementary to the original DNA fragment. Each strand starts with the same primer and ends with a dideoxyribonucleotide (ddNTP), a modified nucleotide. Incorporation of a ddNTP terminates a growing DNA strand because it lacks a 3—OH group, the s ...
Direct measurement of electrical transport through DNA molecules
... Changes between stable con®gurations can be induced by an abrupt switch of the applied voltage or by a high current. Measurements at higher bias voltages (beyond the scale of Fig. 3a) also manifest a peak structure, but with more ¯uctuations and less reproducibility. The voltage gap in the I±V curve ...
... Changes between stable con®gurations can be induced by an abrupt switch of the applied voltage or by a high current. Measurements at higher bias voltages (beyond the scale of Fig. 3a) also manifest a peak structure, but with more ¯uctuations and less reproducibility. The voltage gap in the I±V curve ...
Nucleic Acid structure - part 1
... Nucleotides & Nucleic Acids Chargaff’s rules 1940s 1. Base composition of DNA varies from one species to another 2. DNA from different tissues of same species have same base composition 3. Base composition of DNA in given species does not change with age, nutritional state, environment 4. In all ce ...
... Nucleotides & Nucleic Acids Chargaff’s rules 1940s 1. Base composition of DNA varies from one species to another 2. DNA from different tissues of same species have same base composition 3. Base composition of DNA in given species does not change with age, nutritional state, environment 4. In all ce ...
Nucleic Acid structure
... Nucleotides & Nucleic Acids Chargaff’s rules 1940s 1. Base composition of DNA varies from one species to another 2. DNA from different tissues of same species have same base composition 3. Base composition of DNA in given species does not change with age, nutritional state, environment 4. In all ce ...
... Nucleotides & Nucleic Acids Chargaff’s rules 1940s 1. Base composition of DNA varies from one species to another 2. DNA from different tissues of same species have same base composition 3. Base composition of DNA in given species does not change with age, nutritional state, environment 4. In all ce ...
Fluorescence In Situ Hybridization in Cardiovascular Disease
... dividing cells by treating cells first with colcemid or vinblastine to arrest mitosis and then with a hypotonic KCl solution to increase cellular volume. The cells are then fixed with methanol/acetic acid to remove water and disrupt cell membranes before being spread onto microscope slides. A variet ...
... dividing cells by treating cells first with colcemid or vinblastine to arrest mitosis and then with a hypotonic KCl solution to increase cellular volume. The cells are then fixed with methanol/acetic acid to remove water and disrupt cell membranes before being spread onto microscope slides. A variet ...
GENETIC AND PHYSICAL MAPS OF GENE Bph
... products in a total volume of 15 µl. The digestion reaction was incubated for 4 hours to overnight at appropriate incubation temperature for the enzyme used. The PCR products or the DNA fragments produced by restriction digestion were resolved electrophoretically on 1% agarose gel in 1 X TAE buffer. ...
... products in a total volume of 15 µl. The digestion reaction was incubated for 4 hours to overnight at appropriate incubation temperature for the enzyme used. The PCR products or the DNA fragments produced by restriction digestion were resolved electrophoretically on 1% agarose gel in 1 X TAE buffer. ...
Comparative genomic hybridization
Comparative genomic hybridization is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions (a portion of a whole chromosome). This technique was originally developed for the evaluation of the differences between the chromosomal complements of solid tumor and normal tissue, and has an improved resoIution of 5-10 megabases compared to the more traditional cytogenetic analysis techniques of giemsa banding and fluorescence in situ hybridization (FISH) which are limited by the resolution of the microscope utilized.This is achieved through the use of competitive fluorescence in situ hybridization. In short, this involves the isolation of DNA from the two sources to be compared, most commonly a test and reference source, independent labelling of each DNA sample with a different fluorophores (fluorescent molecules) of different colours (usually red and green), denaturation of the DNA so that it is single stranded, and the hybridization of the two resultant samples in a 1:1 ratio to a normal metaphase spread of chromosomes, to which the labelled DNA samples will bind at their locus of origin. Using a fluorescence microscope and computer software, the differentially coloured fluorescent signals are then compared along the length of each chromosome for identification of chromosomal differences between the two sources. A higher intensity of the test sample colour in a specific region of a chromosome indicates the gain of material of that region in the corresponding source sample, while a higher intensity of the reference sample colour indicates the loss of material in the test sample in that specific region. A neutral colour (yellow when the fluorophore labels are red and green) indicates no difference between the two samples in that location.CGH is only able to detect unbalanced chromosomal abnormalities. This is because balanced chromosomal abnormalities such as reciprocal translocations, inversions or ring chromosomes do not affect copy number, which is what is detected by CGH technologies. CGH does, however, allow for the exploration of all 46 human chromosomes in single test and the discovery of deletions and duplications, even on the microscopic scale which may lead to the identification of candidate genes to be further explored by other cytological techniques.Through the use of DNA microarrays in conjunction with CGH techniques, the more specific form of array CGH (aCGH) has been developed, allowing for a locus-by-locus measure of CNV with increased resolution as low as 100 kilobases. This improved technique allows for the aetiology of known and unknown conditions to be discovered.