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... - Gains/losses of >50 Kb within custom clinically significant gene set. On request candidate genes can be analyzed at a much lower threshold, depending on gene specific marker density. - UPD testing is recommended for patient results demonstrating a long contiguous region of homozygosity in a single ...
Genomics – The Language of DNA
Genomics – The Language of DNA

... because a repeat unit consists of only 1 to 6 bp and the whole repetitive region spans less than 150 bp. Similar to minisatellites, the number of repeats for a given microsatellite may differ between individuals. Therefore, microsatellites can also be used for DNA fingerprinting ...
Deoxyribonucleic Acid (DNA)
Deoxyribonucleic Acid (DNA)

... Each DNA strand is made of combinations of four chemical units, called nucleotide bases, which comprise the genetic "alphabet." The bases are adenine (A), thymine (T), guanine (G), and cytosine (C). Bases on opposite strands pair specifically: A’s always pair with T’s, and C’s always pair with G’s. ...
Deoxyribonucleic Acid (DNA)
Deoxyribonucleic Acid (DNA)

... Each DNA strand is made of combinations of four chemical units, called nucleotide bases, which comprise the genetic "alphabet." The bases are adenine (A), thymine (T), guanine (G), and cytosine (C). Bases on opposite strands pair specifically: A’s always pair with T’s, and C’s always pair with G’s. ...
The Good, the bad and the ugly of Genetic Engineering
The Good, the bad and the ugly of Genetic Engineering

... Put plasmid back into bacteria (a process called transformation) Bacteria will transcribe and translate our insulin gene even though the insulin protein doesn’t do anything for a bacterial cell. Then we can take out the insulin protein and use it to treat diabetics. ...
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Restriction Enzyme

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The Human Body and Health
The Human Body and Health

... (Stages in meiosis are not required.) (Higher Tier only) understand that genes are sections of DNA molecules that determine inherited characteristics and since body cells contain pairs of chromosomes, the genes which control particular characteristics also come as pairs. ...
The History of DNA WebQuest
The History of DNA WebQuest

... • The discoveries and research that led to the realization that DNA was the genetic material. • The scientists who were involved in discovering the structure of DNA. ...
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... Ff The Y-shaped molecule formed when the H bonds between the base pairs in DNA are broken at the initiation of replication. ...
Semester 2 – Final Exam Review2016
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... 1. What is capable of evolving, populations or individuals? EXPLAIN WHY. 2. Know the Types of Natural Selection and the GRAPHS associated with each type. Directions: Write the name of the type of natural selection in the blank at the top of the 3 boxes; use the outline of each box as the X-axis and ...
Genes have fixed positions on chromosomes.
Genes have fixed positions on chromosomes.

... function, and produce a white kernel. When the element moves, the pigment gene function is restored, producing a reddish splotch of color on the skin of the kernel. ...
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File - Intermediate School Biology

... 3. Diagnostic test for changed genes 4. (a) Shields the –ve DNA from the +ve proteins causing the DNA to clump. (b) Inactivates any enzymes not denatured.(c) removes cellular debris ( cell walls and membranes) (d) removes the protein associated with DNA. (e) DNA is insoluble in ice cold ethanol and ...
Transposable Elements
Transposable Elements

... function, and produce a white kernel. When the element moves, the pigment gene function is restored, producing a reddish splotch of color on the skin of the kernel. ...
AND DNA Genes are located on chromosomes in the nucleus of
AND DNA Genes are located on chromosomes in the nucleus of

... • Genetic engineering is a way scientists use mutations in a beneficial way. It is used to manufacture desired proteins, repair damaged genes, and cure diseases. • A pedigree is a sort of family tree that follows traits through generations of a family. It is useful to predict whether a person carrie ...
DNA and Protein Synthesis
DNA and Protein Synthesis

... copy of your DNA. Why, then, are some cells nerve cells with dendrites and axons, while others are red blood cells that have lost their nuclei and are packed with hemoglobin? Why are cells so different in structure and function? If the characteristics of a cell depend upon the proteins that are synt ...
Molecular biology Tools
Molecular biology Tools

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chapter 14 15 16 study guide
chapter 14 15 16 study guide

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CHAPTER 13
CHAPTER 13

... 4. I would use genetic engineering to change a gene in my unborn child, such as their hair color or eye color. 5. I would use genetic engineering to add a gene to my child that is not human – such as a gene from another organism that could ...
Neuronal Ceroid-Lipofuscinosis type 3 (NCL3)
Neuronal Ceroid-Lipofuscinosis type 3 (NCL3)

... rapid. Other clinical features include seizures and psychomotor deterioration; prognosis is poor. The differential diagnosis of NCL3 from the other NCL types is based on age of onset, clinical phenotype and ultra structural characterisation of the storage material. NCL3 is characterised by the accum ...
Goal 3.01 Quiz 1
Goal 3.01 Quiz 1

... A. Some DNA mutates as the cells are developing. B. Some DNA functions in males, while other DNA functions only in females. C. Some DNA is active in certain cells, while other DNA is active in other cells. D. Some DNA recombines to form different proteins than the DNA found in the original cells. ...
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Cell-free fetal DNA

Cell-free fetal DNA (cffDNA) is fetal DNA circulating freely in the maternal blood stream. It can be sampled by venipuncture on the mother. Analysis of cffDNA provides a method of non-invasive prenatal diagnosis.cffDNA originates from the trophoblasts making up the placenta. It is estimated that 2-6% of the DNA in the maternal blood is fetal in origin. The fetal DNA is fragmented and makes its way into the maternal bloodstream via shedding of the placental microparticles into the maternal bloodstream (figure 1). Studies have shown that cffDNA can first be observed as early as 7 weeks gestation, and the amount of cffDNA increases as the pregnancy progresses. cffDNA diminishes quickly after the birth of the baby, so that it is no longer detectable in the maternal blood approximately 2 hours after birth. cffDNA is significantly smaller than the maternal DNA in the bloodstream, with fragments approximately 200bp in size. Many protocols to extract the fetal DNA from the maternal plasma use its size to distinguish it from the maternal DNA.Studies have looked at, and some even optimized, protocols for testing non-compatible RhD factors, sex determination for X-linked genetic disorders and testing for single gene disorders. Current studies are now looking at determining aneuploidies in the developing fetus. These protocols can be done earlier than the current prenatal testing methods, and have no risk of spontaneous abortion, unlike current prenatal testing methods. Non-invasive prenatal diagnosis (NIPD) has been implemented in the UK and parts of the US; it has clear benefits above the standard tests of chorionic villi sample (CVS) and amniocentesis which have procedure-related miscarriage risks of about 1 in 100 pregnancies and 1 in 200 pregnancies, respectively.As a method of prenatal diagnosis, cell-free fetal DNA techniques share the same ethical and practical issues, such as the possibility of prenatal sex discernment and sex selection.
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