PCOL 838 GENETIC EXAM 2025
QUESTIONS AND ANSWERS
Acrocentric - ANS the terminal location of the centromere on chromosomes 13, 14, 15, 21,
and 22
Allelic heterogeneity - ANS The situation on which allels at a single locus can produce one or
more disease phenotypes
Amorphic - ANS general term used to denot any unbalances chromosome complement
Antimorphic - ANS pathogenic variants that, when present in heterozygous form opposite
nonmutant allele, will result in a phenotype similar to homozygosity for loss-of-function alleles
Ascertainment bias - ANS The situation when individuals or families in a genetic stude are
not representative of the general population because of the way in which they identify
1 @COPYRIGHT THESTAR 2025/2026
, Autosomal - ANS located on chromosomes 1-22 rather than X or Y
CpG island - ANS 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.
Dictyotene - ANS The end of prophase during female meiosis I in which fetal oocytes are
arrested prior to ovulation
Dominant - ANS a pattern of inheritance or mechanism of gene action in which the effects of
a variant allele can be observed in the presence of nonmutant allele
Dominant negative - ANS A type of pathophysiological mechanism that occurs when a
mutant allele interferes with the normal function of the nonmutant gene product
2 @COPYRIGHT THESTAR 2025/2026
QUESTIONS AND ANSWERS
Acrocentric - ANS the terminal location of the centromere on chromosomes 13, 14, 15, 21,
and 22
Allelic heterogeneity - ANS The situation on which allels at a single locus can produce one or
more disease phenotypes
Amorphic - ANS general term used to denot any unbalances chromosome complement
Antimorphic - ANS pathogenic variants that, when present in heterozygous form opposite
nonmutant allele, will result in a phenotype similar to homozygosity for loss-of-function alleles
Ascertainment bias - ANS The situation when individuals or families in a genetic stude are
not representative of the general population because of the way in which they identify
1 @COPYRIGHT THESTAR 2025/2026
, Autosomal - ANS located on chromosomes 1-22 rather than X or Y
CpG island - ANS 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.
Dictyotene - ANS The end of prophase during female meiosis I in which fetal oocytes are
arrested prior to ovulation
Dominant - ANS a pattern of inheritance or mechanism of gene action in which the effects of
a variant allele can be observed in the presence of nonmutant allele
Dominant negative - ANS A type of pathophysiological mechanism that occurs when a
mutant allele interferes with the normal function of the nonmutant gene product
2 @COPYRIGHT THESTAR 2025/2026
