CFPII Block 4 Flashcards
Expressivity
degree or severity in which symptoms are shown in individuals who possess specific genotype
Mosaicism
not all of the cells in the individual are genetically identical
Anticipation
severity of a disease gets worse with each generation
Genomic imprinting
type of disease can vary based on whether they inherited the genetic defect from their mother or father
Phenocopy
the same phenotype can caused by a genetic defect, disease or environmental
allelic heterogeneity
different alleles of the same gene produce the same disease
Locus heterogeneity
mutations in different genes or on different chromosomes can cause the same disease
Complete penetrance
all individuals who have the genotype will express it in their phenotype
Incomplete penetrance
some individuals with the genotype may not show in their phenotype
Episomal genes
non-integrated genes or extra-chromosomal genes
Germline therapy
Modification in gametes, changes are HERITABLE, not performed in humans
Somatic Therapy
gene modification done in non-gamete cells, the changes are NOT HERITABLE, may need to repeated for future generations
non-reproductive
Transduction
delivering a gene of interest into cells using cell-specific viruses with a high efficiency of gene transfer (viral mediated gene therapy)
Transfection
delivering a gene of interest into cells using non-viral methods
Gene alteration therapy
used to regulate gene expression/ protein production through the use of miRNA with attached inhibitor
degree to which gene turned on or off
Gene replacement therapy
swaps the abnormal gene for a normal gene through homologous recombination
Gene augmentation
insert normal gene into a non-specific location within the genome
replace nonfunctional
Gene inhibition therapy
gene silencing, performed using antisense techniques or RNAi to block protein synthesis
inhibits gain of function
Gene repair therapy
repairs an abnormal gene using zinc finger nucleases to cut the abnormal gene and homologous recombination to fix the error
47th Chromosome technique
artificial chromosome capable of carrying large amounts of genetic material.
Integrating viral vectors
viruses which integrate their nucleic acid into the host genome
Retrovirus and lentivirus
Non-integrating viral vectors
viruses which do not integrate their nucleic acid with the host genome
adeno, pox, herpes
Receptor-mediated endocytosis
viral coat binds to cell receptor site forming an endosome for entrance and ultimate incorporation into cell genome
In vivo Liposome gene delivery
transfer of DNA through FUSION of an artificial lipid sphere with an aqueous core with the lipid bi-layer of the cells
Ex vivo transfection
involves extraction of cells from an organism, insertion of foreign gene into the cells, then re-introduction of the modified cells into the organism
In vivo transfection
transfection that involves insertion of foreign gene into the cells of a living organism
directly introduced
Bacterial gene transfer
uses bacteria to introduce foreign genes into target cells
The first patient to be successfully treated with gene therapy had this disease?
ADA deficiency
This disease was caused in a child who was treated for X-SCID in France
Leukemia
One pt died due to an immune reaction to the engineered adenovirus inserted into the liver to treat this disease
OTC deficiency
Apoptosis Characteristics
Chromatin Condensation
Cell shrinkage
Preservation of organelles and cell membranes
Rapid engulfment by phagocytic cells
Necrosis Characteristics
Nuclear Swelling Cell Swelling Disruption of organelles Rupture of cell and release of cellular contents Inflammatory response
Adds the inhibitory phosphate to CDK
Wee-1 kinase
Adds the activating phosphate to CDK
CAK (CDK-activating kinase)
Removes the inhibitory phosphate form CDK
Cdc-25 phosphatase
Separase
breaks cohesins bonds that keep sister chromatids together
Securin
keeps separase inactive
APC/C/Cdc20
ubiquitinate securin so that separase is released
Totipotent
stem cells able to generate every cell type including extraembryonic (placental) tissue –> only a fertilized egg (zygote) possesses this capability
Pluripotent
germ cells but NOT placental or umbilical cord
Multipotent
cannot form all body’s cell lineage
Unipotent
single cell lineage
Penetrance
the proportion of people who possess the genotype that actually sow the phenotype