Patho. 4 & 5 vocab
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Created by:
lmanney34 on September 24, 2011
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Here are the vocab words we need to know for the genetics lectures. I know this 'same' set was just posted while I was working on it and I didn't want all of my efforts to go to waste so I posted mine as well!! hahaha
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36 terms
Terms | Definitions |
|---|---|
 Law of Segregation | Mendel's first law. Homologous genes separate from one another during reproduction and that each reproductive cell carries only one of the homologous genes. |
| Independent Assortment | Mendel's second law. The hereditary transmission of one gene has no effect on the transmission of another. |
| Transcription | Process of DNA to RNA |
| Translation | Process of RNA to amino acids |
| Trisomy | A type of aneuploidy. A cell containing three copies of a chromosome. An example of this is Down Syndrome |
| Alternative Splicing | The process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing. Therefore, a single gene may code for multiple proteins. |
| Degeneracy of genetic code | Redundancy of the genetic code. There are 4 nucleotides that can be arranged in combinations of three. Therefore we have 64 possible codons but only 20 amino acids. |
| Missense mutation | A base pair substitution, In which one nucleotide is switched for another. Causes a change in amino acid sequence. |
| Silent Mutation | When there is a base pair substitution but the amino acid does not change because of redundancy. |
| Nonsense Mutation | A point mutation when a stop codon is formed instead of an amino acid. |
| Frameshift mutation | The insertion of deletion of a base pair. Causes a shift in all of the codons to follow. |
| Crossing over | When arms of homologous chromosome pairs intertwine and exchange portions of their DNA during the first meiotic stage. A new combination of alleles can be formed. |
| Recombination | The process of forming new arrangements of alleles when crossing over occurs. |
| Phenotype | The outward appearance of an individual, which is the result of both genotype and the environment. |
| Genotype | The composition of genes at a given locus. |
| Dominance | The allele whose effects are observable. |
| Recessive | The allele whose effects are said to be hidden. |
| Codominance | What the locus is said to exhibit when the heterozygote is distinguishable from both homozygotes. |
| Autosomal | Pertaining to a chromosome (1-22) or trait that is not linked to sex chromosomes (23) |
| Sex-linkage | Traits linked to the sex-chromosomes |
| Proband | The one individual in a family that begins a pedigree. (Propositus-male, Proposita-female) |
| X-inactivation | The process by which one of the two copies of the X chromosome present in female mammals is inactivated. |
| Pentrance | Percentage of individuals with a specific genotype who also exhibit the expected phenotype. |
| Expressivity | The variation in allelic expression when the allele is penetrant. |
| Epigenetics | The collection of chemical modifications that can produce dramatically different phenotypes from the same DNA sequence. |
| Phenocopies | When an individual shows a genetic phenotype because of environmental factors. |
| Environmental effects | Any factor that is not related to genetics. |
| Polygenic | Traits in which variation is thought to be caused by the combined effects of multiple genes. |
| Genetic Background | The set of genes with which a gene of interest is associated. Recombination moves genes from one genetic background to another. |
| Multifactorial Inheritance | When environmental factors are also believed to cause variations in the trait. |
| Gene-Environment Interaction | Both genetic and non-genetic factors influences the likelihood of developing a common disease. |
| Quantitative Genetics | Studying genetics that are multifactorial like blood pressure and height. |
| Heritability (H) | The proportion of phenotypic variation in a population that is due to genetic variation between individuals. |
| Relative Risk | Incidence rate of the disease among individuals exposed to a risk factor / Incidence rate of the disease among individuals NOT exposed to a risk factor |
| Recurrence Risk | When a child is born with a disease, it is the probability that subsequent children in that family are born with that same disease. |
| Consanguinity | Marriage between related individuals. A factor in producing children with recessive diseases. |
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