Single-gene inheritance - The molecular basis of mendelian iheritance patterns - Alleles at the molecular level
8 important questions on Single-gene inheritance - The molecular basis of mendelian iheritance patterns - Alleles at the molecular level
- Mutant alleles from which the proteins encoded by them completely lack function
- Mutant alleles reduce the level of enzyme function
DNA sequencing often detects changes that have no functional impact at all, so they are functionally wild type. Hence, we see that the terms wild type and mutant sometimes have to be used carefully.
- Null alleles
- Leaky mutations (because some wild-type function seems to “leak” into the mutant phenotype)
What are silent mutations?
What is, formally, dominant or recessive, eventhough in practice, geneticists more often apply the term to alleles?
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Recessiveness is observed in null mutations in genes that are functionally ..., loosely meaning that one gene copy has enough function to produce a wild-type phenotype.
What is a haplo-insufficient gene?
Although a wild-type diploid cell normally has two fully functional copies of a gene, does one copy of a haplosufficient gene provide enough gene product (generally a protein) to carry out the normal transactions of the cell?
A null mutant allele will be dominant because, in a heterozygote (+/P), the single wild-type allele cannot provide enough product for normal function.
Can, in some cases, mutation results in a new function for the gene?
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