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Exam 2-2
Genetics
| Term | Definition |
|---|---|
| wild-type alleles | prevalent alleles in a population, encode proteins that function normally + made in popular amounts |
| genetic polymorphism | can produce more than one wild-type in large populations, change in DNA sequence |
| Mendelian inheritance obey two laws | law of segregation + law of independent assortment |
| Simple mendelian inheritance involves | single gene w/2 diff. alleles + alleles display a simple dominant/recessive relationship |
| mutant alleles | alleles that have been altered by mutation, defective in ability to express functional protein, tend to be rare in natural pops., inherited in recessive fashion |
| Why one dominant allele is enough for wild-type | 50% of normal protein is enough to accomplish the proteins cellular function |
| genotype | amount of functional protein |
| gain-of-function | protein encoded by mutant gene that is changed so it gains a new or abnormal function |
| dominant-negative | protein encoded by mutant genes acts as poison to the normal protein |
| haploinsufficiency | mutant is loss-of-function, heterozygote does not make enough product to give wild-type phenotype, 50% not enough |
| incomplete penetrance | dominant allele does not influence the outcome of a trait in heterozygote individual (phenotype), described at a population level |
| expressivity | degree to which a trait is expressed |
| environmental effects on gene expressivity | changes in environment can effects how genes are expressed, ex: coat color in foxes, ability to metabolize phenylalanine (PKU) |
| norm of reaction | effects of environment variation on the phenotype |
| incomplete dominance | heterozygote exhibits a phenotype that is intermediate between the corresponding homozygote, ex: red, white + pink flowers |
| phenotype/trait for shape | can be seen with naked eye, simple dominant/recessive relationship |
| phenotype/trait for starch content | with microscope, incomplete dominance |
| sickle cell anemia | shortens life span of RBC, odd-shaped cell clumps, blocks capillary circulation, recessive, less likely to have malaria |
| multiple alleles | found in natural populations, typically 3 or more alleles, blood type |
| blood type codominance | IA and IB are codominant, both expressed in heterozygous individual |
| codominance | two alleles are both expressed simultaneously w/o forming an intermediate phenotype |