HMX GENETICS- ALL EXAM STUDY GUIDE
Nucleotide - Answer -deoxyribose, a 5C sugar with a hydroxyl group on the 3' carbon
and a phosphate group on the 5' carbon, and a nitrogen base attached to the 1' carbon
Amino acid - Answer -coded 5' to 3' (N terminus to C terminus)
Central dogma - Answer -describes the flow of information from DNA (genotype) to
RNA (portable) to protein (phenotype) via transcription and translation
Codon - Answer -A specific sequence of three adjacent bases on a strand of DNA or
RNA that provides genetic code information for a particular amino acid
DNA - Answer -is usually right-handed with 10 bp/turn
Exons - Answer -RNA chunks that contain the actual coding genes
Introns - Answer -filler portions of RNA that are removed from transcript
Frameshift variant - Answer -a nucleotide exchange that changes all of the amino acids
after it (usually an insertion, deletion, or duplication)
Genotype - Answer -An organism's genetic makeup, or allele combinations.
Missense variant - Answer -an exchange of nucleotides that leads to a change in a
single amino acid within a chain
Nonsense variant - Answer -a nucleotide exchange that leads to stopping translation
early by encoding a stop codon
Nucleic acid - Answer -a complex organic substance present in living cells, especially
DNA or RNA, whose molecules consist of many nucleotides linked in a long chain.
Phenotype - Answer -the physical manifestation of genes; shows through protein
structure and function
Protein - Answer -A three dimensional polymer made of monomers of amino acids.
RNA - Answer -more portable than DNA; has uracil and ribose sugars
Silent variant - Answer -an exchange of nucleotides that results in identical amino acid
chains to the original template
, SNP - Answer -a common variant affecting one nucleotide (must be present in more
than 1% of the population)
Transcription - Answer -synthesis of an RNA molecule from a DNA template
Translation - Answer -decoding of a mRNA message into a polypeptide chain
Transcription factor - Answer -A regulatory protein that binds to DNA and affects
transcription of specific genes.
How are genes typically written? - Answer -in the 5' to 3' direction
Nucleosome - Answer -DNA helix wound around histone proteins; makes up chromatin
Alignment - Answer -the position of data within a cell; how DNA is organized for
genome sequencing
Cas9 Protein - Answer -nuclease used in CRISPR to cut certain sequences of DNA
(guide RNA finds the sequence first)
CRISPR - Answer -Clustered Regularly Interspaced Short Palindromic Repeats; the
leading approach to genomic editing
Epigenomics - Answer -study of epigenetic component of a cell (ex: DNA methylation)
Genome editing - Answer -an experimental method of detecting and correcting
defective genes in an individual (ex: CRISPR)
Genomics - Answer -study of whole genomes, including genes and their functions
Genomic library - Answer -complete collection of cloned DNA fragments from an
organism
Genotyping - Answer -the process of determining differences in the genetic make-up
(genotype) of an individual by examining the individual's DNA sequence using biological
assays and comparing it to another individual's sequence or a reference sequence.
Guide RNA - Answer -RNA molecule that serves as a template for an alteration made
in mRNA during RNA editing or CRISPR
Massively parallel sequencing - Answer -Sequencing of all DNA from site at one time
Metabolomics - Answer -study of metabolic expression in cells
Microbiomics - Answer -Study of the human microbiome (in the gut)
Nucleotide - Answer -deoxyribose, a 5C sugar with a hydroxyl group on the 3' carbon
and a phosphate group on the 5' carbon, and a nitrogen base attached to the 1' carbon
Amino acid - Answer -coded 5' to 3' (N terminus to C terminus)
Central dogma - Answer -describes the flow of information from DNA (genotype) to
RNA (portable) to protein (phenotype) via transcription and translation
Codon - Answer -A specific sequence of three adjacent bases on a strand of DNA or
RNA that provides genetic code information for a particular amino acid
DNA - Answer -is usually right-handed with 10 bp/turn
Exons - Answer -RNA chunks that contain the actual coding genes
Introns - Answer -filler portions of RNA that are removed from transcript
Frameshift variant - Answer -a nucleotide exchange that changes all of the amino acids
after it (usually an insertion, deletion, or duplication)
Genotype - Answer -An organism's genetic makeup, or allele combinations.
Missense variant - Answer -an exchange of nucleotides that leads to a change in a
single amino acid within a chain
Nonsense variant - Answer -a nucleotide exchange that leads to stopping translation
early by encoding a stop codon
Nucleic acid - Answer -a complex organic substance present in living cells, especially
DNA or RNA, whose molecules consist of many nucleotides linked in a long chain.
Phenotype - Answer -the physical manifestation of genes; shows through protein
structure and function
Protein - Answer -A three dimensional polymer made of monomers of amino acids.
RNA - Answer -more portable than DNA; has uracil and ribose sugars
Silent variant - Answer -an exchange of nucleotides that results in identical amino acid
chains to the original template
, SNP - Answer -a common variant affecting one nucleotide (must be present in more
than 1% of the population)
Transcription - Answer -synthesis of an RNA molecule from a DNA template
Translation - Answer -decoding of a mRNA message into a polypeptide chain
Transcription factor - Answer -A regulatory protein that binds to DNA and affects
transcription of specific genes.
How are genes typically written? - Answer -in the 5' to 3' direction
Nucleosome - Answer -DNA helix wound around histone proteins; makes up chromatin
Alignment - Answer -the position of data within a cell; how DNA is organized for
genome sequencing
Cas9 Protein - Answer -nuclease used in CRISPR to cut certain sequences of DNA
(guide RNA finds the sequence first)
CRISPR - Answer -Clustered Regularly Interspaced Short Palindromic Repeats; the
leading approach to genomic editing
Epigenomics - Answer -study of epigenetic component of a cell (ex: DNA methylation)
Genome editing - Answer -an experimental method of detecting and correcting
defective genes in an individual (ex: CRISPR)
Genomics - Answer -study of whole genomes, including genes and their functions
Genomic library - Answer -complete collection of cloned DNA fragments from an
organism
Genotyping - Answer -the process of determining differences in the genetic make-up
(genotype) of an individual by examining the individual's DNA sequence using biological
assays and comparing it to another individual's sequence or a reference sequence.
Guide RNA - Answer -RNA molecule that serves as a template for an alteration made
in mRNA during RNA editing or CRISPR
Massively parallel sequencing - Answer -Sequencing of all DNA from site at one time
Metabolomics - Answer -study of metabolic expression in cells
Microbiomics - Answer -Study of the human microbiome (in the gut)
