While assessing a patient, the nurse notes an irregularity that has been observed in other patients, but on an inconsistent basis. This nurse has most likely discovered a(n):

1. Polymorphism.
2. Mutation.
3. Single-gene inheritance pattern.
4. X-linked inheritance pattern.


Polymorphism.

Rationale: Polymorphisms differ from mutations in that they are observed more frequently in the general population than mutations. Polymorphisms and mutations are key determinants of an individual's observable traits, or phenotype, and clinical status. Whether the gene variation is identified as a mutation or polymorphism has more to do with how often the allele is observed instead of whether the allele is harmful or beneficial. A mutation
is a change in DNA sequence that has been identified in less than 1% of the population. A polymorphism is a change in DNA sequence that has been identified in more than 1% of the population and is thus more commonly observed than a mutation. A single-gene inheritance pattern will follow a pattern of being present in every member of a generation or will skip a generation, depending on whether the alteration is dominant or recessive. In the X-linked inheritance pattern, the mutant gene is located on the X chromosome. Males have only one X chromosome with no counterpart for the genes; therefore the alteration will appear in all males. Because the female has two X chromosomes, the alteration may or may not occur.

Nursing

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