©SOPHIABENNET@2024-2025 Friday, August 23, 2024 10:49 AM
HMX Genetics- ALL Exam Study Guide
with Complete Solutions
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)
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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
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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
3
HMX Genetics- ALL Exam Study Guide
with Complete Solutions
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)
1
, ©SOPHIABENNET@2024-2025 Friday, August 23, 2024 10:49 AM
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
2
, ©SOPHIABENNET@2024-2025 Friday, August 23, 2024 10:49 AM
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
3
