Term
What type of inhereitance:
two unaffected heterozygotes have children the percentage of affected children is (on average) 25% |
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Definition
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Term
| Characteristic age of onset |
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Definition
| the age at which the disease appears |
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Term
| loss of function mutations |
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Definition
| result in human recessive alleles, cause reduction of loss of function in the encoded protein |
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Term
Which type of inheritance:
Affected offspring usually has one or both affected parents,
Can be lethal in homozygous conditions |
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Definition
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Term
| Three explanations of dominant disorders |
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Definition
haploinsufficiency
gain of function mutation
dominant-negative mutation |
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Term
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Definition
| a person has only a single functional copy of a gene and that single functional copy does not result in a normal phenotype. |
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Term
| gain of function mutatuion |
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Definition
| change the gene product so it 'gains' a new and abnormal function |
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Term
| dominant- negative mutation |
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Definition
| the altered gene product acts antagonistically to the normal gene product |
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Term
What type of Inheritance:
Males much more likey to exhibit. |
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Definition
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Term
What type of inheritance:
Females are much more likey to exhibit disease and affected sons usually die early due to lethality. |
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Definition
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Term
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Definition
| phenomenon in which a particular type of disease may be caused by mutations in two or more different genes. |
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Term
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Definition
| use of testing methods to determine if an individual carries a particular allele, halotype, or alteration in chromosome structure or number. |
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Term
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Definition
| refers to population wide genetic testing |
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Term
Three ways genetic testing can be done prior to birth
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Definition
amniocentesis
chorionic villus sampling (CVS)
preimplantation genetic diagnosis (PGD) |
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Term
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Definition
| a doctor removes amniotic fluid containing fetal cells, using a needle that is passed through the abdominal wall. cultured for several weeks the subjected to genetic testing; karyotyping. |
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Term
| Chronic Villus sampling (CVS) |
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Definition
| small piece of the chorion (fetal part of placenta) is removed and genetic testing can be conducted directly on the collected cells. |
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Term
| Preimplantation genetic diagnosis (PGD) |
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Definition
| conducted before pregnancy even occurs involves testing of embryos that have been produced via in vitro fertilization. |
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Term
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Definition
| disease causing agent composed entirely of protein |
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Term
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Definition
| a disease characterized by uncontrolled cell division |
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Term
| cancerous growth is said to be clonal in origin, what does this mean? |
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Definition
| A single infected cell has daughter cells and usually undergo a series of genetic changes that accumulate during cell division |
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Term
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Definition
| a precancerous genetic change- that is then followed by additional genetic changes that lead to cancerous cell growth |
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Term
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Definition
cells that have three common characteristics
1. cell division continues in an unlimited manner
2. the cells are invasive
3. the cells are metastatic |
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Term
| If a cell is Invasive it... |
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Definition
| can invade healthy tissues |
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Term
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Definition
| which means they can migrate to other parts of the body and cause secondary tumors |
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Term
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Definition
environmental agent that promotes genetic changes in somatic cells
ex. UV light, certain chemicals |
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Term
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Definition
| abnormally active gene that promotes cancerous growth |
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Term
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Definition
| a normal, non mutated gene that has potential to become an oncogene |
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Term
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Definition
| signaling molecules that coordinate cell division |
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Term
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Definition
| prevents cancerous growth |
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Term
| Most commonly altered gene in human cancers is |
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Definition
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Term
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Definition
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Term
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Definition
proteases that carry out apoptosis.
they digest selected cellular proteins |
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Term
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Definition
| cellular mechanisms that either prevent mutations from occuring and/or prevent mutatnt cells from surviving or dividing |
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Term
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Definition
detect genetic abnormalities
DNA breaks, improperly segregated chromosomes |
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Term
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Definition
| mutations change the product so it gains new abnormal function |
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Term
| Knudson's two hit hypothesis was about: |
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Definition
| a person must have two mutations occur in the same cell to get the disease. Two rare events are more less likely to happen rather than one. Inherited and non-inherited forms make a difference |
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Term
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Definition
| the loss of function of a normal allele when the other allele was already inactivated |
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