15) GENETIC INFLUENCE ON PATIENT
OUTCOMES QUESTIONS & ACTUAL
CORRECT ANSWERS
Locus - CORRECT ANSWER Refers to the particular location, or position, of a
segment of DNA; can refer to the position of a single gene or to the position of a
segment of DNA containing many genes such as the β-globin locus on chromosome 11
which contains five functional genes and one pseudogene
Gene - CORRECT ANSWER The term that defines a unit of heredity; there are both
coding (protein-coding genes) and noncoding genes
Allele - CORRECT ANSWER All humans inherit a copy of their DNA from each parent
and each parental set of chromosomes contains different versions (approximately 3-5
million different bases) termed alleles; for any given gene there are two alleles: the
maternal and the paternal versions; for any given gene there is a common allele
referred to as the wild-type allele
Variant (Mutant) - CORRECT ANSWER Refers to the sequence differences in a gene
relative to that of the wild-type gene due to the presence of a mutation; can refer to
mutation causing disease but does not necessarily imply difference in function
Polymorphism - CORRECT ANSWER Denotes variant alleles of a particular DNA
sequence; the most common polymorphisms are single nucleotide polymorphisms
(SNP) but the term can refer to much larger sequences of DNA
Genotype - CORRECT ANSWER Refers to the overall genetic composition of a
genome in an organism
Phenotype - CORRECT ANSWER Refers to the observable characteristics resulting
from an organism's genotype; genotype does not always specifically control phenotype
due to the processes of epigenetics
Homozygous/homozygote - CORRECT ANSWER Refers to having the same allele on
both homologous chromosomes at a particular locus
Heterozygous/heterozygote - CORRECT ANSWER Refers to having different alleles on
both homologous chromosomes at a particular locus