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Medical Interventions Unit 2 Vocabulary
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How is color blindness inherited?
X chromosome (sex-linked)
An inherited disease that is influenced by the environment and genes.
Multifactorial
If two people are heterozygous for sickle cell anemia, what is the chances their child will have sickle cell?
25%
Explain cloning.
Using a somatic or body cell from a multicellular organism to make one or more genetically identical individuals.
What is pre-implantation genetic diagnosis (PGD)
Reproductive technology- determines genetic abnormalities in the embryo before it is transferred into the uterus.
What is In Vitro Fertilization?
A procedure in which gametes are fertilized in a dish in the laboratory, zygotes are then implanted in the uterus.
What is CRISPR
A gene editing tool that is coupled with the Cas9 restriction enzyme to edit genes. Guide RNA leads Cas9 to the area in need of editing.
What does CRISPR stand for?
Clustered Regularly Interspaced Short Palindromic Repeats
Explain in vitro therapy.
Performed in the lab, outside of a living organism.
Explain in vivo therapy.
Taking place inside a living organism.
What is plasmid DNA?
Circular DNA molecules found in prokaryotes and some eukaryotes.
Explain the repair strategy for gene therapy.
A dysfunctional gene is repaired so that it is able to produce a functional protein.
Explain the disable gene therapy strategy.
A dysfunctional gene is disabled, eliminating the impact of the protein.
Explain the insert strategy in gene therapy.
A functional gene is given to a patient providing their body with the means to make function proteins. Deflective gene is still present.
List the three general strategies of gene therapy.
Insert, Disable, Repair
What is a vector?
An agent (as a plasmid or virus) that contains or carries modified genetic material and can be used to introduce extra genes into the genome of an organism.
What is gene therapy?
The alteration of the genes of a person afflicted with a genetic disease.
Explain amniocentesis.
A technique for determining genetic abnormalities in a fetus by the presence of certain chemicals or defective fetal cells in the amniotic fluid.
Explain Chorionic villus sampling (CVS).
A technique for diagnosing genetic and congenital defects in a fetus by removing and analyzing a sample of the fetal placenta.
Name one prenatal test that may occur during the second trimester of pregnancy.
Anatomy ultrasound, Amniocenteses, check chart
Name one prenatal test that might occur during the first trimester of pregnancy.
For example, NT ultrasound, CVS, etc....check chart
List an example of a chromosomal abnormality.
For example, Down syndrome....answers will vary.
Explain a diagnostic test.
Provides a more definitive answer as to whether or not a child will be born with a particular disorder or condition, direct examination of fetal cells.
Explain a screening test.
How likely it is that a child may have a particular condition or disorder.
What is a sticky end?
Restriction enzyme that cuts DNA unevenly, leaving a jagged edge.
What is Haell?
A restriction enzyme that creates a blunt cut as it cuts DNA into fragments. Cuts between gg and cc.
What is a primer (used in PCR)?
A short piece of DNA or RNA that is complementary to a section of template strand and acts as an attachment and starting point during DNA replication.
What is a a restriction enzyme?
A degradative enzyme that recognizes specific nucleotides sequences and cuts up DNA.
What is a single-nucleotide polymorphism? (SNP, pronounced "snips")
One base-pair variation in the genome sequence.
What is a phenotype?
The physical and physiological traits of an organism.
What is a genotype?
The genetic makeup of an organism.
What is a polymerase chain reaction (PCR)?
A technique that involves copying short pieces of DNA and then making millions of copies in a short period of time.
What is a gene?
A discrete unit of heredity information consisting of a specific nucleotide sequence of DNA.
What is a karyotype?
A display of the chromosome pairs of a cell arranged by size and shape.
What is genetic testing?
The use of methods to determine if someone as a genetic disorder, will develop one, or is a carrier.
What is a genome?
The complement of an organism's genes; an organisms genetic material.
Describe the genetic counseling.
A process of communication that deals with the occurrence or risk that a genetic disorder will occur in a family.
What is a gene?
A discrete unit of hereditary information consisting of a specific nucleotide sequence of DNA.


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