hierarchical shotgun sequencing correct answers break up DNA, sequence and find overlapping
pieces, then assemble
DNA cloning correct answers assemble recombinant DNA and direct their replication within
model organisms
Sanger sequencing correct answers selective incorporation of chain-terminating
deoxynucleotides by DNA polymerases during in-vitro DNA replication
chromosome correct answers packaged and organized structure containing most of the DNA of a
living organism
gene correct answers DNA made up of nucleotides; basic unit of heredity
allele correct answers version of a gene; get one from each parent
loci correct answers position of a gene on a chromosome
mitosis correct answers part of cell division where the nucleus splits in two (chromosome into
two nuclei)
interphase correct answers cell copies its DNA to prepare for mitosis (cell division); spends most
of the time here
medical genetics correct answers application of genetics to health and disease
genome correct answers all the DNA in a cell or organism
transcription correct answers converting DNA to RNA by polymerase adding complementary
base pairs to make a new strand
telomere correct 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 correct 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 correct answers rearrangement of genetic material, especially by crossing over in
chromosomes
,genetic maps correct answers methods used to identify the locus of a gene and the distances
between genes
physical maps correct 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 correct answers DNA content is not related to organismal complexity
mitochondrial genome correct answers inherited from mother, mostly protein-coding, some RNA
genes and regulatory sequences, highly conserved
nuclear genome correct answers only 1% protein coding
4% RNA / regulatory sequences
45% transposons
6% heterochromatin
45% other sequences that are poorly conserved
non-coding RNA correct answers protein synthesis and export
RNA maturation
DNA synthesis/telomere function
gene regulation
transposon control
phylogenetic footprinting correct 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 correct answers transferring of genetic material between two
non-homologous chromosomes that can result in gene duplication which can cause disease
pseudogene correct answers functionless relatives of genes that have lost their gene expression in
the cell or their ability to code protein
cis regulation correct answers regulators on the same side of the same molecule
trans regulation correct answers factor on another molecule that regulates and binds a cis element
epigenetics correct answers changes in organisms caused by modification of gene expression
rather than alternation of the genetic code itself; imparts cellular memory
promoter correct answers allows transcription to start at the start codon of a gene
polymerase correct answers makes long chains of nucleotides
polymerase I correct answers repair DNA damage, connect Okazaki fragments by removing
RNA primers and replacing the strand with DNA
, polymerase II correct answers 5' → 3' DNA synthesis capability as well as 3' → 5' exonuclease
proofreading activity
polymerase III correct answers holoenzyme that can proofread DNA and part of the replisome at
the replication fork that enables DNA replication
POLRMT correct answers mitochondrial RNA polymerase
RNA polymerase correct answers produces primary transcript RNA, necessary for transcription
RNA Pol I correct answers transcribe rRNA genes
RNA Pol II correct answers transcribe protein coding genes
RNA Pol III correct answers transcribe tRNA, 5S RNA, and other small RNA genes
types of mutation causing disease correct answers mainly protein coding mutations
small % in regulatory sequences --> largely underestimated
comparative genomics correct answers compares the human genome to other genomes and looks
for differences and conserved elements
splicing correct answers editing of pre-mRNA where introns are cut and exons are joined
together to make mature RNA
alternative splicing correct 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 correct 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 correct answers small non-coding RNA molecule that functions in RNA silencing and
post-transcriptional regulation of gene expression
segmental duplications correct answers >1000 bp DNA segments that are 90% identical; can
give rise to chimeric genes
DNA methylation correct answers controls gene expression by turning it off (inhibits
transcription)