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Vector
An agent that deliver therapeutic genetic material
Genome
total amount of DNA is each cell, all of the genes
SNP
when a mutation is present in at least 1% of the population, a type of point mutation, the most common type of genetic variation among people.
Gene therapy
the alteration of genes of a person afflicted with a genetic disease
Restriction enzyme
endonucleases that catalyze the cleavage of the phosphate bonds within both strands of DNA, only cut at very specific sequences, called recognition sites
Denaturation
hydrogen bonds between the DA strands are disrupted, results in the complete separation of the two DNA strands
Annealing
the two primers bind to their target complements
Extension
Taq polymerase proteins bind to each separated DNA strand and primer combo. Taq then adds the four free deoxynucleotides to a growing complementary strand
In vitro fertilization
a procedure in which gametes are fertilized in a dish in the laboratory, and the resulting zygote is implanted in the uterus for development
Cloning
processes that can be used to produce genetically identical copies of a biological entity
Genetic counselor
A professional who can offer advice and help them navigate their reproductive choices
Karyotype
Can diagnose chromosomal diseases
CVS
First trimester, takes a sample of cells from the placenta
Amniocentesis
Second trimester, takes a sample of fluid
Ultrasound
Identifies structural abnormalities, noninvasive screening
Single gene disorders
Can be detected with SNP analysis
Multifactorial disorders
Environmental and genetic factors
Chromosomal disorders
A disorder that has to do with the addition or deletion of a chromosome
Mitochondrial disorders
Passed mother to child
Dominant disorders
Expressed even when only one allele is present
Recessive disorders
Both alleles have to be present
Sex-linked disorders
Genes determined by the genes carried on the sex chromosomes
Taq polymerase
most commonly used DNA polymerase, is stable at near boiling temperatures, used in PCR
Primers
Identifies the start of a gene that needs to be copied
Lysis buffer
Used to burst cells
dNTPs
The nucleotides used in PCR, Taq adds them to a growing complementary strand
Zygote
A fertilized egg