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9 Cards in this Set
- Front
- Back
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allele |
allele is a variation in nucleotide sequence in a given gene that may or may not result in a detectable phenotype. some can lead to a dominant or recessive phenotype. |
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gene redundancy |
change in gene may not result in change in phenotype. |
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types of mutations |
silent mutation, missence mutation, stop or frame-shift mutation. dependent on location of mutation to have an effect. |
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change in gene |
could lead to change in protein structure, often leading to improper function but could gain function (rare), or interfere with other processes. |
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haplo-inefficiency |
have one functioning allele may not be sufficient therefore the mutant becomes the wild type (over time) |
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dominant negative |
mutant becomes dominant or interferes with wild type hence mutant phenotype is seen. Wild type needs to WT to work |
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co dominance |
all alleles of a gene are co dominant at the genetic level. |
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dominant negative phenotype |
mutant alleles block function of wild type allele, occurs when functional protein is a dimer, results in change of phenotype. |
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recessive lethal |
mutant may block the WT phenotype therefore leading to death. |
