Our objectives were to investigate: (1) relationships between perceptions of various terms regarding mutation and the depth of knowledge regarding mutation among family members of patients receiving genetic outpatient services, and (2) differences in perceptions of the term "gene mutation" for family members versus university students. Fifty-eight family members and 178 university students responded to two questionnaires: Impressions regarding the term, and Knowledge about the concept of mutation. Factor analyses were conducted to determine the factor structure of ratings of the terms, and two-way analyses of variance [(1)Term, (2)Group × Knowledge] were conducted to examine differences in perceptions of the terms as measured by scores for each extracted factor. Family members had a significantly more negative perception of the term "gene mutation" than "gene change" and a less negative perception of the term "gene mutation" than "gene lesion"; they had significantly more negative perceptions of the term "gene mutation" than did university students.
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