What does phenotypic heterogeneity indicate?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Phenotypic heterogeneity refers to the phenomenon where variations in phenotype can arise from different genetic alterations or mutations affecting the same gene or a gene within the same pathway. This indicates that a single gene can manifest in various ways, leading to different symptoms or syndromes in different individuals. For example, mutations in a specific gene could result in a spectrum of clinical presentations, ranging from mild to severe manifestations, depending on additional genetic, environmental, or epigenetic factors.

In contrast, the other options describe different genetic concepts. One option suggests that the same mutation causes similar symptoms in all individuals. This would depict phenotypic consistency rather than heterogeneity. Another option implies that different genes lead to identical phenotypes, which is more related to genetic redundancy or convergent evolution scenarios. Lastly, the choice stating a single gene variant is present in every affected individual describes a unifying genetic cause leading to a specific phenotype, which again contradicts the concept of heterogeneity. Thus, the chosen answer captures the essence of phenotypic heterogeneity effectively.

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