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With PKU, it is unknown whether an individual who is heterozygous with a wild type allele is affected or not. Much the same is true with phenylketonuria (PKU), where the majority of patients are heterogeneous for mutations. A combination of two severe mutations leads to severe CF, while two mild mutations or one mild and one severe may lead to mild or severe CF, depending on the specifics. Some mutations produce more severe results than do others. CF is a non-dominant mutation in which a chloride channel is inactive or partially inactive, leading to a number of traits including pancreatic insufficiency and airway obstruction. Also a gene, and hence a mutation, may be syndromic and affect several traits.Īn example of a disease resulting from an activity-altering mutation in a syndromic gene is cystic fibrosis (CF). Some mutations may produce alleles that are activity-altering mutations, creating alleles in which the gene product is changed and the efficiency of the product altered without a total loss or gain of function. Similarly, a loss of function mutation produces recessive or dominant-negative alleles.
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A gene could experience a gain of function mutation, which would produce a dominant allele. This is b ecause genes can experience many different types of mutations. This means that, while one can expect to see several sets of similar phenotypes, one can also expect to see a wide range of these phenotypes with a wide range of effects. No two alleles produce exactly the same gene product. The easily observable simple traits can provide clues to population history, while those not so easily observable (such as mild variants) must be further studied in order to better understand the effects of mutations in both general and specific cases. Sometimes these traits are easily observable phenotypes and sometimes they are not. Mutations in single genes, however, do not usually result in changes of just one trait. A simple trait is one that arises from a single gene.