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genetics exam 1
| Term | Definition |
|---|---|
| William harvey | theory of epigenesis |
| Louis pasteur | disproved spontaneous generation through his experiment with swan neck flasks. |
| darwin | theory of evolution & natural selection |
| alfred russel wallace | theory of evolution |
| mendel | works with pea plants and formed basis of genetics. found that each trait is controlled by genes & that during gamete formation, members of a gene pair separate. |
| chromosome theory of inheritance | inherited traits are controlled by genes residing on chromosomes. Transmitted through gates, keeping genetic continuity. |
| Avery, McLeod, & McCarty | DNA is genetic career for bacteria |
| Hershey & Chase | found that genes are DNA, not protein |
| Watson & Crick | first model of DNA |
| Chargaff's rules | C=G & T=A |
| purines | A+G, double ringed |
| pyrimidines | C+T, single ringed |
| metacentric | centromere in middle |
| submetacentric | centromere between middle and end |
| acrocentric | centromere close to end. |
| telocentric | centromere on the end. |
| psedoautosomal region | loci on X and Y that lets them connect despite different shapes. |
| karyokinesis | separation of DNA and nucleus, while cytokinesis is the volume splitting into two. |
| Kinetochore | protein in the centromere that lets the microtubules stick to the chromosomes |
| shugoshin | protects cohesion at the centromere region despite separase |
| G1 checkpoint | are we ok? Should we go to G0 or apoptosis? |
| G2 checkpoint | are we ready for mitosis? |
| M checkpoint | have the spindle fibers correctly attached? |
| mendels postulates | 1. Unit factors (genes) for each trait. 2. Dom/Recess 3. Segregation |
| Test cross | unknown dominant genotype with a recessive to determine genotype. |
| Trihybrid crosses | forked lines method. multiply fractions |
| proband | on a pedigree, first person to bring phenotype to family attention |
| null allele | complete loss of a function |
| lethal recessive ratio | 2:1 |
| epigenesis | each step of development increases the complexity of the organ or feature of interest and is under the control of many genes. |
| epistasis | expression of one gene masks or modifies the effect of a second gene |
| epistatic | the allele dominating another |
| hypostatic | the allele being dominated by another |
| complementary gene interaction | 9:7 ratio. Dominant phenotype requires at least 1 dominant allele from each gene. |
| Complementation Analysis | Lets us see fi 2 independent mutations are in the same gene. If ma and mb have normal kids, then they aren't on the same gene, but if they have mutant kids, then it is one the same gene and there's no complementation occurring. |
| pleiotropy | some genes can have multiple phenotypes EX: the mutation can cause different symptoms |
| crisscross pattern of inheritance | homozygous mothers pass on the trait to all their sons. |
| penetrance | the % of people that have the mutation |
| expressivity | the range of expression of the mutant genotype |
| position effect | location of gene can influence expression, especially if close to heterochromatin region. |
| auxotroph | organisms with mutations affecting nutrient synthesis. EX: lactose intolerance |
| genetic anticipation | each generation the disease gets earlier and stronger |
| 1 mu/cM | 1% recombination |
| double the recombination rate | the crossover rate |
| 3 point mapping needs: | 1. heterozygote. 2. all gametes can be determined based on phenotypes. 3. Enough offspring produced to be representative. |
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010307