GMS 6012 Exam Block 1 questions with
correct answers
types of DNA sequences - correct answer ✔✔(1) single copy
(2) moderately repetitive
(3) highly repetitive
single copy DNA sequence characteristics - correct answer ✔✔- one copy or a few copes (1-3) per
haploid genome
- no upper or lower size (i.e., length) limit
- consists of almost all human genes
- contains coding and non-coding regions or parts of genes
gene size - correct answer ✔✔dictates the target size for mutations --> the larger the gene, the larger
the target
2,000 base pairs - correct answer ✔✔lower limit of a gene size
2 million (or 2400 kb) - correct answer ✔✔upper limit of gene size for protein-coding genes
BRACA1 and Rb - correct answer ✔✔two very large genes --> have a higher likelihood of developing a
mutation because of their size; associated with breast cancer and retinoblastoma, respectively
gene family - correct answer ✔✔a set of genes descended by duplication and (relatively slight) variation
from some ancestral gene;
gene family characteristics - correct answer ✔✔- homologous throughout the entire length of their
nucleotide sequence (65% or higher)
- may be clustered together or dispersed on different chromosomes
- have closely related biochemical functions
,60-65% or higher - correct answer ✔✔percent similarity of DNA nucleotide sequence required for two
genes to be considered gene family members
20-30% or higher - correct answer ✔✔percent similarity of amino acid sequence that is required for two
genes (that code for proteins) to be considered gene family members --> much lower than that of DNA
nucleotides
duplication and mutation - correct answer ✔✔how gene families are formed (also how genes can get
specialization of gene function)
immunoglobins - correct answer ✔✔example of a gene (segment) family --> slight twist because they
need to be assembled and can recombine from segments
variable regions - correct answer ✔✔antigen binding site on an immunoglobin, on the Ig's light chain
V and J segments in immunoglobin light chain - correct answer ✔✔- heavy chain has V(D)J segments; VJ
only in the light
- introns between J and C regions in both heavy and light chains
pre-initiation complex - correct answer ✔✔series of proteins that come together so that RNA
polymerase can do its job and transcribe RNA from a gene; defines the beginning of a gene and
determines the first nucletide in the RNA
primary transcript - correct answer ✔✔the first piece of RNA that comes off the template that is
included in both exons and introns; used to identify gene positions in genetics data science
V600E and melanoma - correct answer ✔✔mutation in the Val in position 600 on the Braf kinase for a
glutamate will cause a change in the charge of the protein (as gluatame is negatively charged) and it will
look like it is phosphorylated, which leads to the activation of a pro-signaling pathway --> associated with
melanoma
, beginning and end of a gene - correct answer ✔✔considered to begin at or close to the point in the DNA
sequence where transcript (primary transcript) is initated, and to end or close to the poit where
transcription terminates (due to the consideration of regulatory elements)
intergenic spaces - correct answer ✔✔codons in between protein coding genes
positive strand - correct answer ✔✔5' is on the left and 3' is on the right
negative strand - correct answer ✔✔3' is on the left and 5' is on the right
positive and negative strands - correct answer ✔✔in a given DNA molecule, genes tend to alternate
between being coded on the _______
3'-end of UTR - correct answer ✔✔exception of rule about gene overlap --> partial overlap based on
hairpin loop
introns and opposite strands - correct answer ✔✔the non-protein coding DNA is often found on ____
supergene families - correct answer ✔✔composed of partially homolgous genes (about 1/2
homologous); however, there are completely unrelated regions of mRNA on these genes (not all
segments are homologous) ---> have physiological relationships but don't necessarily share the same
biochemical function
immunoglobin gene family - correct answer ✔✔example of a supergene family --> certain exons are
similar, but other exons are completely different
difference between gene family and supergene family - correct answer ✔✔- all proteins in a gene family
have a closely related biochemical function (ex., globin proteins)
- most proteins in a supergene family are a part of a related physiological system (ex., immune system)
gene cluster - correct answer ✔✔homologous, related genes encoding proteins with closely related
molecular functions that are next to each other on the chromosome (relationship of physical location)
correct answers
types of DNA sequences - correct answer ✔✔(1) single copy
(2) moderately repetitive
(3) highly repetitive
single copy DNA sequence characteristics - correct answer ✔✔- one copy or a few copes (1-3) per
haploid genome
- no upper or lower size (i.e., length) limit
- consists of almost all human genes
- contains coding and non-coding regions or parts of genes
gene size - correct answer ✔✔dictates the target size for mutations --> the larger the gene, the larger
the target
2,000 base pairs - correct answer ✔✔lower limit of a gene size
2 million (or 2400 kb) - correct answer ✔✔upper limit of gene size for protein-coding genes
BRACA1 and Rb - correct answer ✔✔two very large genes --> have a higher likelihood of developing a
mutation because of their size; associated with breast cancer and retinoblastoma, respectively
gene family - correct answer ✔✔a set of genes descended by duplication and (relatively slight) variation
from some ancestral gene;
gene family characteristics - correct answer ✔✔- homologous throughout the entire length of their
nucleotide sequence (65% or higher)
- may be clustered together or dispersed on different chromosomes
- have closely related biochemical functions
,60-65% or higher - correct answer ✔✔percent similarity of DNA nucleotide sequence required for two
genes to be considered gene family members
20-30% or higher - correct answer ✔✔percent similarity of amino acid sequence that is required for two
genes (that code for proteins) to be considered gene family members --> much lower than that of DNA
nucleotides
duplication and mutation - correct answer ✔✔how gene families are formed (also how genes can get
specialization of gene function)
immunoglobins - correct answer ✔✔example of a gene (segment) family --> slight twist because they
need to be assembled and can recombine from segments
variable regions - correct answer ✔✔antigen binding site on an immunoglobin, on the Ig's light chain
V and J segments in immunoglobin light chain - correct answer ✔✔- heavy chain has V(D)J segments; VJ
only in the light
- introns between J and C regions in both heavy and light chains
pre-initiation complex - correct answer ✔✔series of proteins that come together so that RNA
polymerase can do its job and transcribe RNA from a gene; defines the beginning of a gene and
determines the first nucletide in the RNA
primary transcript - correct answer ✔✔the first piece of RNA that comes off the template that is
included in both exons and introns; used to identify gene positions in genetics data science
V600E and melanoma - correct answer ✔✔mutation in the Val in position 600 on the Braf kinase for a
glutamate will cause a change in the charge of the protein (as gluatame is negatively charged) and it will
look like it is phosphorylated, which leads to the activation of a pro-signaling pathway --> associated with
melanoma
, beginning and end of a gene - correct answer ✔✔considered to begin at or close to the point in the DNA
sequence where transcript (primary transcript) is initated, and to end or close to the poit where
transcription terminates (due to the consideration of regulatory elements)
intergenic spaces - correct answer ✔✔codons in between protein coding genes
positive strand - correct answer ✔✔5' is on the left and 3' is on the right
negative strand - correct answer ✔✔3' is on the left and 5' is on the right
positive and negative strands - correct answer ✔✔in a given DNA molecule, genes tend to alternate
between being coded on the _______
3'-end of UTR - correct answer ✔✔exception of rule about gene overlap --> partial overlap based on
hairpin loop
introns and opposite strands - correct answer ✔✔the non-protein coding DNA is often found on ____
supergene families - correct answer ✔✔composed of partially homolgous genes (about 1/2
homologous); however, there are completely unrelated regions of mRNA on these genes (not all
segments are homologous) ---> have physiological relationships but don't necessarily share the same
biochemical function
immunoglobin gene family - correct answer ✔✔example of a supergene family --> certain exons are
similar, but other exons are completely different
difference between gene family and supergene family - correct answer ✔✔- all proteins in a gene family
have a closely related biochemical function (ex., globin proteins)
- most proteins in a supergene family are a part of a related physiological system (ex., immune system)
gene cluster - correct answer ✔✔homologous, related genes encoding proteins with closely related
molecular functions that are next to each other on the chromosome (relationship of physical location)
