NURS 6501 ADVANCED PATHOPHYSIOLOGY WEEK 1 QUESTIONS AND CORRECT
DETAILED ANSWERS|WALDEN UNIVERSITY| A+ GRADE
1. Acrocentric - (ANSWER)refers to the terminal location of centromere on
chromosomes 13, 14, 15, 21, and 22
2. Allelic heterogeneity - (ANSWER)the situation in which multiple alleles at a single
locus can produce one or more disease phenotypes.
3. Amorphic - (ANSWER)refers ro mutations that cause a complete loss of function for
the respective gene, and therefore yield the same phenotype as a complete gene #$%^&*()(*
deletion. &^%
4. Aneuploidy - (ANSWER)a general term used to denote any unbalanced chromosome
complement
5. Antimorphic - (ANSWER)refers to mutations that when present in heterozygous form
opposite a nonmutant allele will result in a phenotype similar to homozygous for
loss of function alleles.
6. Ascertainment bias - (ANSWER)the situation in which individuals or families in a
genetic study are not representative of the general population because of the way in
which they are identified
7. Autosomal - (ANSWER)located on chromosomes 1-22 rather than x or y
8. Cpg island - (ANSWER)a segment of DNA that contains a relatively high density of 5'
- CG-3' dinucleotides. Such segments are frequently unmethylated and located
close to ubiquitously expressed genes.
9. Dictyotene - (ANSWER)the end of prophase during female meiosis I in which fetal
oocytes are arrested prior to ovulation.
10. Dominant - (ANSWER)a pattern of inheritance or mechanism of gene action in
which the effects of a variant allele can be observed in the presence of a nonmutant
allele.
11. Dominant negative - (ANSWER)a type of pathophysiologic mechanism that occurs
when a mutant allele interferes with the normal function of the nonmutant gene
product.
DETAILED ANSWERS|WALDEN UNIVERSITY| A+ GRADE
1. Acrocentric - (ANSWER)refers to the terminal location of centromere on
chromosomes 13, 14, 15, 21, and 22
2. Allelic heterogeneity - (ANSWER)the situation in which multiple alleles at a single
locus can produce one or more disease phenotypes.
3. Amorphic - (ANSWER)refers ro mutations that cause a complete loss of function for
the respective gene, and therefore yield the same phenotype as a complete gene #$%^&*()(*
deletion. &^%
4. Aneuploidy - (ANSWER)a general term used to denote any unbalanced chromosome
complement
5. Antimorphic - (ANSWER)refers to mutations that when present in heterozygous form
opposite a nonmutant allele will result in a phenotype similar to homozygous for
loss of function alleles.
6. Ascertainment bias - (ANSWER)the situation in which individuals or families in a
genetic study are not representative of the general population because of the way in
which they are identified
7. Autosomal - (ANSWER)located on chromosomes 1-22 rather than x or y
8. Cpg island - (ANSWER)a segment of DNA that contains a relatively high density of 5'
- CG-3' dinucleotides. Such segments are frequently unmethylated and located
close to ubiquitously expressed genes.
9. Dictyotene - (ANSWER)the end of prophase during female meiosis I in which fetal
oocytes are arrested prior to ovulation.
10. Dominant - (ANSWER)a pattern of inheritance or mechanism of gene action in
which the effects of a variant allele can be observed in the presence of a nonmutant
allele.
11. Dominant negative - (ANSWER)a type of pathophysiologic mechanism that occurs
when a mutant allele interferes with the normal function of the nonmutant gene
product.
