Pseudodeficiency alleles
Pseudodeficiency Alleles
Pseudodeficiency alleles (pronunciation: soo-doh-dee-fish-en-see uh-leels) are genetic variants that can cause a decrease in enzyme activity in laboratory tests, but do not cause disease in individuals who carry them.
Etymology
The term "pseudodeficiency" is derived from the Greek word "pseudo", meaning false, and the Latin word "deficientia", meaning lacking. "Alleles" is derived from the Greek word "allelon", meaning of each other. Thus, pseudodeficiency alleles refer to those genetic variants that falsely appear to be deficient or lacking in function.
Related Terms
- Enzyme: A protein that acts as a catalyst to bring about a specific biochemical reaction.
- Genetic Variant: A difference in the DNA sequence in the genome of an individual.
- Genome: The complete set of genes or genetic material present in a cell or organism.
- Biochemical Reaction: A chemical reaction that occurs inside the cells of living organisms.
- Disease: A particular abnormal condition that negatively affects the structure or function of all or part of an organism.
Pseudodeficiency Alleles in Medical Context
Pseudodeficiency alleles can complicate the interpretation of genetic testing results, as they can lead to false-positive results for certain genetic disorders. For example, pseudodeficiency alleles have been identified for several lysosomal storage disorders, including Gaucher's disease and Fabry disease. In these cases, individuals with pseudodeficiency alleles may show reduced enzyme activity in laboratory tests, but do not exhibit any symptoms of the disease.
It is important for clinicians and genetic counselors to be aware of pseudodeficiency alleles when interpreting genetic testing results. This knowledge can help prevent unnecessary worry and potential harm from inappropriate treatment.
External links
- Medical encyclopedia article on Pseudodeficiency alleles
- Wikipedia's article - Pseudodeficiency alleles
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