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Medical Intervention Unit 4 study guide
Terms in this set (33)
What are the two types of factors that play a role in genetic disorders?
Phenotype and genotype.
caused by a combination of environmental factors and mutations in multiple genes which results in many of the most common chronic illnesses
Single Gene Disorders
caused by changes or mutations in the DNA sequence of one gene which results in the production of a non-functional protein
caused by mutations in non-chromosomal DNA which is passed from mother to child
caused when there are missing or extra copies of genes, or breaks, deletions or rejoinings of chromosomes
Names of steps of PCR
Denaturation, annealing, and extension.
First step of PCR; Temperature is increased to about 92 degrees Celsius in order to separate the DNA strands.
Second step of PCR; Temperature is dropped to between 48 and 72 degrees Celsius, allowing primers to base pair to complementary DNA template.
Third step of PCR; Temperature is between 68 and 72 degrees Celsius, and polymerase extends primer to form nascent DNA strand. After this, exponential amplification is performed in order to amplify the DNA of interest.
the chromosomes of a cell, usually displayed as a systematized arrangement of chromosome pairs in descending order of size.
the deliberate production of genetically identical individuals. Each newly produced individual is a clone of the original.
the permitted creation of cloned human tissues for surgical transplant.
Difference between Reproductive and Therapeutic Cloning
Reproductive clones the entire organism by inserting the blastula into the uterus, while therapeutic is intended to improve the health of an already existing organism by adding the cloned tissue.
a surgical procedure for obtaining a sample of amniotic fluid from the amniotic sac in the uterus of a pregnant woman by inserting a hollow needle through the abdominal wall, used in diagnosing certain genetic defects or possible obstetric complications.
a thermostable enzyme used to extend the DNA.
free deoxyribonucleotides needed for extension.
a solution used to incubate the reaction components
designed to correspond to the start and end of the target DNA being amplified
polymerase chain reaction
separation of DNA fragments based on molecular weight
recognition of SNPs and cutting of DNA
extraction of cells
Uses instrument called a transducer that emits high-frequency sound, inaudible to human ears, and then records the echoes as the sound waves bounce back to determine the size, shape, and consistency of soft tissues and organs.
Its purpose can be to diagnose certain diseases, particularly ones affecting the liver, gallbladder, and spleen.
Positive Behaviors to follow during pregnancy
Learn about family health history, manage existing medical conditions since the treatment may differ when pregnant, exercise regularly, and avoid extreme weight diets.
Negative Behaviors to avoid during pregnancy
Drinking alcohol, having a high amount of stress in your life, and avoiding the high intake of mercury through large amounts of fish.
Chorionic Villus Sampling
Can reveal whether or not a baby has a chromosomal disorder, such as down syndrome, or the. Since it removes the sample from the placenta of a baby, which feeds oxygen and nutrients to the baby, the test is considered rather invasive.
Amniocentesis vs. CVS
Amniocentesis is much less invasive than CVS. Amniocentesis is performed by going through the abdomen, while CVS goes in through the vagina, entering through the cervix.
a laboratory apparatus most commonly used to amplify segments of DNA via the polymerase chain reaction (PCR). Thermal cyclers may also be used in laboratories to facilitate other temperature-sensitive reactions, including but not limited to restriction enzyme digestion or rapid diagnostics. Raises and lowers temperatures.
When an egg cell is removed from the species of interest, and then a somatic cell (the cell with the advantageous DNA) is inserted into the egg after the nucleus is removed from the egg. The fertilized egg is then stimulated, and placed in a culture.
Carries it in the form of RNA, 8000 BP long, can transcribe RNA into DNA, but is linked to cancer and AIDS.
Double stranded DNA, 7500 BP long, but is only a temporary solution, and can cause an immune response.
ssDNA (Single Stranded DNA), 5000 BP long, can integrate into genome specific location on chromosome 19, but affects a wide range of cells.
PTC and taster types
75% have the gene, and are able to taste PTC, while 25% are unable to do so. Two common forms are the tasting allele and the non-tasting allele. The shape of the receptor protein determines how strongly an individual can taste PTC.
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