MGY 250 EXAM QUESTIONS WITH CORRECT ANSWERS LATEST UPDATE 2025/2026
hierarchical shotgun sequencing - Answers break up DNA, sequence and find overlapping
pieces, then assemble
DNA cloning - Answers assemble recombinant DNA and direct their replication within model
organisms
Sanger sequencing - Answers selective incorporation of chain-terminating deoxynucleotides by
DNA polymerases during in-vitro DNA replication
chromosome - Answers packaged and organized structure containing most of the DNA of a
living organism
gene - Answers DNA made up of nucleotides; basic unit of heredity
allele - Answers version of a gene; get one from each parent
loci - Answers position of a gene on a chromosome
mitosis - Answers part of cell division where the nucleus splits in two (chromosome into two
nuclei)
interphase - Answers cell copies its DNA to prepare for mitosis (cell division); spends most of
the time here
medical genetics - Answers application of genetics to health and disease
genome - Answers all the DNA in a cell or organism
transcription - Answers converting DNA to RNA by polymerase adding complementary base
pairs to make a new strand
telomere - Answers repetitive nucleotide sequences at the end of the chromosome that protect
the ends of it and act as "caps" to hold the DNA together
prevents translocation and fusion and DNA degradation
centromere - Answers the point of the chromosome that is attached to a spindle fibre during
cell division
where kinetochore is found for mitotic spindle to attach
recombination - Answers rearrangement of genetic material, especially by crossing over in
,chromosomes
genetic maps - Answers methods used to identify the locus of a gene and the distances
between genes
physical maps - Answers made by breaking up the genome; allow you to infer physical distances
between parts of the gene e.g. shotgun sequencing, chromosome walking
C-value paradox - Answers DNA content is not related to organismal complexity
mitochondrial genome - Answers inherited from mother, mostly protein-coding, some RNA
genes and regulatory sequences, highly conserved
nuclear genome - Answers only 1% protein coding
4% RNA / regulatory sequences
45% transposons
6% heterochromatin
45% other sequences that are poorly conserved
non-coding RNA - Answers protein synthesis and export
RNA maturation
DNA synthesis/telomere function
gene regulation
transposon control
phylogenetic footprinting - Answers technique used to identify transcription factor binding sites
(TFBS) within a non-coding region of DNA by comparing it to the orthologous sequence in a
different species
non-homologous recombination - Answers transferring of genetic material between two non-
homologous chromosomes that can result in gene duplication which can cause disease
pseudogene - Answers functionless relatives of genes that have lost their gene expression in
the cell or their ability to code protein
cis regulation - Answers regulators on the same side of the same molecule
trans regulation - Answers factor on another molecule that regulates and binds a cis element
epigenetics - Answers changes in organisms caused by modification of gene expression rather
than alternation of the genetic code itself; imparts cellular memory
, promoter - Answers allows transcription to start at the start codon of a gene
polymerase - Answers makes long chains of nucleotides
polymerase I - Answers repair DNA damage, connect Okazaki fragments by removing RNA
primers and replacing the strand with DNA
polymerase II - Answers 5' → 3' DNA synthesis capability as well as 3' → 5' exonuclease
proofreading activity
polymerase III - Answers holoenzyme that can proofread DNA and part of the replisome at the
replication fork that enables DNA replication
POLRMT - Answers mitochondrial RNA polymerase
RNA polymerase - Answers produces primary transcript RNA, necessary for transcription
RNA Pol I - Answers transcribe rRNA genes
RNA Pol II - Answers transcribe protein coding genes
RNA Pol III - Answers transcribe tRNA, 5S RNA, and other small RNA genes
types of mutation causing disease - Answers mainly protein coding mutations
small % in regulatory sequences --> largely underestimated
comparative genomics - Answers compares the human genome to other genomes and looks for
differences and conserved elements
splicing - Answers editing of pre-mRNA where introns are cut and exons are joined together to
make mature RNA
alternative splicing - Answers regulation process during gene expression that results in a single
gene coding for multiple proteins (changes the way RNA is cut, making different combinations)
role of splice site mutations in disease - Answers can cause exclusion of exon (truncated
protein or frameshift mutation)
can cause inclusion of intron (introduce stop codon or insert "toxic" amino acids causing
dominant negative mutation)
miRNA - Answers small non-coding RNA molecule that functions in RNA silencing and post-
transcriptional regulation of gene expression
segmental duplications - Answers >1000 bp DNA segments that are 90% identical; can give rise
to chimeric genes
hierarchical shotgun sequencing - Answers break up DNA, sequence and find overlapping
pieces, then assemble
DNA cloning - Answers assemble recombinant DNA and direct their replication within model
organisms
Sanger sequencing - Answers selective incorporation of chain-terminating deoxynucleotides by
DNA polymerases during in-vitro DNA replication
chromosome - Answers packaged and organized structure containing most of the DNA of a
living organism
gene - Answers DNA made up of nucleotides; basic unit of heredity
allele - Answers version of a gene; get one from each parent
loci - Answers position of a gene on a chromosome
mitosis - Answers part of cell division where the nucleus splits in two (chromosome into two
nuclei)
interphase - Answers cell copies its DNA to prepare for mitosis (cell division); spends most of
the time here
medical genetics - Answers application of genetics to health and disease
genome - Answers all the DNA in a cell or organism
transcription - Answers converting DNA to RNA by polymerase adding complementary base
pairs to make a new strand
telomere - Answers repetitive nucleotide sequences at the end of the chromosome that protect
the ends of it and act as "caps" to hold the DNA together
prevents translocation and fusion and DNA degradation
centromere - Answers the point of the chromosome that is attached to a spindle fibre during
cell division
where kinetochore is found for mitotic spindle to attach
recombination - Answers rearrangement of genetic material, especially by crossing over in
,chromosomes
genetic maps - Answers methods used to identify the locus of a gene and the distances
between genes
physical maps - Answers made by breaking up the genome; allow you to infer physical distances
between parts of the gene e.g. shotgun sequencing, chromosome walking
C-value paradox - Answers DNA content is not related to organismal complexity
mitochondrial genome - Answers inherited from mother, mostly protein-coding, some RNA
genes and regulatory sequences, highly conserved
nuclear genome - Answers only 1% protein coding
4% RNA / regulatory sequences
45% transposons
6% heterochromatin
45% other sequences that are poorly conserved
non-coding RNA - Answers protein synthesis and export
RNA maturation
DNA synthesis/telomere function
gene regulation
transposon control
phylogenetic footprinting - Answers technique used to identify transcription factor binding sites
(TFBS) within a non-coding region of DNA by comparing it to the orthologous sequence in a
different species
non-homologous recombination - Answers transferring of genetic material between two non-
homologous chromosomes that can result in gene duplication which can cause disease
pseudogene - Answers functionless relatives of genes that have lost their gene expression in
the cell or their ability to code protein
cis regulation - Answers regulators on the same side of the same molecule
trans regulation - Answers factor on another molecule that regulates and binds a cis element
epigenetics - Answers changes in organisms caused by modification of gene expression rather
than alternation of the genetic code itself; imparts cellular memory
, promoter - Answers allows transcription to start at the start codon of a gene
polymerase - Answers makes long chains of nucleotides
polymerase I - Answers repair DNA damage, connect Okazaki fragments by removing RNA
primers and replacing the strand with DNA
polymerase II - Answers 5' → 3' DNA synthesis capability as well as 3' → 5' exonuclease
proofreading activity
polymerase III - Answers holoenzyme that can proofread DNA and part of the replisome at the
replication fork that enables DNA replication
POLRMT - Answers mitochondrial RNA polymerase
RNA polymerase - Answers produces primary transcript RNA, necessary for transcription
RNA Pol I - Answers transcribe rRNA genes
RNA Pol II - Answers transcribe protein coding genes
RNA Pol III - Answers transcribe tRNA, 5S RNA, and other small RNA genes
types of mutation causing disease - Answers mainly protein coding mutations
small % in regulatory sequences --> largely underestimated
comparative genomics - Answers compares the human genome to other genomes and looks for
differences and conserved elements
splicing - Answers editing of pre-mRNA where introns are cut and exons are joined together to
make mature RNA
alternative splicing - Answers regulation process during gene expression that results in a single
gene coding for multiple proteins (changes the way RNA is cut, making different combinations)
role of splice site mutations in disease - Answers can cause exclusion of exon (truncated
protein or frameshift mutation)
can cause inclusion of intron (introduce stop codon or insert "toxic" amino acids causing
dominant negative mutation)
miRNA - Answers small non-coding RNA molecule that functions in RNA silencing and post-
transcriptional regulation of gene expression
segmental duplications - Answers >1000 bp DNA segments that are 90% identical; can give rise
to chimeric genes
