HMX Genetics UPDATED Questions and
CORRECT Answers
Single Nucleotide Variant (SNV) - CORRECT ANSWER - differences in DNA sequence.
46 chromosomes. >1% of population. Common complex traits
bp in nucleus - CORRECT ANSWER - 6 billion
Chromatin - CORRECT ANSWER - packaged DNA. Composed of DNA helix wound
around histone proteins forming nucleosomes. 150 bp of DNA wound around each histone core
Amino acid - CORRECT ANSWER - 20 different molecules used to build proteins. Coded
by genes. Organic. Contains a Carboxyl (-COOH) and an Amino (-NH2) group
Central dogma - CORRECT ANSWER - flow of information in cell from DNA to RNA to
protein
Codon - CORRECT ANSWER - set of 3 nucleotides
DNA - CORRECT ANSWER - deoxyribonucleic acid. contains deoxyribose sugar (5
carbon), phosphate group, and a nitrogenous base (ATCG). Hydrogen bond connects nucleotides
(A=T C=G). Directs production of RNA by transcription. Nitrogen-containing base on 1' carbon.
Hydroxyl group on 3'. Phosphate group on 5'. Encodes information
Frameshift variant - CORRECT ANSWER - caused by insertions or deletions of a single
gene
Genotype - CORRECT ANSWER - genetic makeup
,Missense variant - CORRECT ANSWER - point mutation, single nucleotide change
results in codon that codes for different amino acid
Nonsense variant - CORRECT ANSWER - genetic alteration that causes premature
termination of a protein
nucleic acid - CORRECT ANSWER - many nucleotides linked in a long chain. DNA or
RNA
phenotype - CORRECT ANSWER - physical makeup
protein - CORRECT ANSWER - provide structure and function (phenotype)
RNA - CORRECT ANSWER - provides portability. Directs production of proteins by
translation
Silent variant - CORRECT ANSWER - don't have observable effect on organism's
phenotype
Single Nucleotide Polymorphisms (SNP) - CORRECT ANSWER - common SNVs, occur
in >1% of population, create human genetic diversity
Transcription - CORRECT ANSWER - DNA-->RNA. mediated by RNA polymerase. 2
(RNAPII) complex and produces primary RNA molecule. Primary RNA molecule is spliced and
processed to become a mature mRNA
Translation - CORRECT ANSWER - RNA-->Protein. Produces a protein from protein
coding region of a mature mRNA. 5' and 3' of mRNA molecule aren't translation-ed and are
called untranslated regions (UTRs)
, Transcription factor - CORRECT ANSWER - TF. Protein that controls the rate of
transcription of genetic information from DNA to mRNA, by binding to a specific DNA
sequence
Nucleosome - CORRECT ANSWER - made up of 150 bps of DNA wrapped around
protein core composed of 8 histone proteins
Base - CORRECT ANSWER - measurement of DNA length indicating one nucleotide.
Unit can be modified by multipliers.
Kilobase (Kb) - CORRECT ANSWER - 1,000 bases
Megabase (Mb) - CORRECT ANSWER - 1,000,000 bases
genetic variation - CORRECT ANSWER - difference in genotype. Variants in regulation
regions and UTRs can affect RNA or protein levels. Variant affecting protein structures have to
be in the protein coding region -> activity/specificty of enzyme TAA.
Variable Expressivity - CORRECT ANSWER - degree of phenotypic expression differs
among individuals with same genotype
Alleles - CORRECT ANSWER - different forms of genes
Autosomal - CORRECT ANSWER - have 46 chromosomes (44 autosomes and 2 sex
chromosomes). Diploid
Carrier - CORRECT ANSWER - individuals who are heterozygous in recessive
inheritance
Centromeres - CORRECT ANSWER - highly condensed region of chromosome where
sister chromatids are connected
CORRECT Answers
Single Nucleotide Variant (SNV) - CORRECT ANSWER - differences in DNA sequence.
46 chromosomes. >1% of population. Common complex traits
bp in nucleus - CORRECT ANSWER - 6 billion
Chromatin - CORRECT ANSWER - packaged DNA. Composed of DNA helix wound
around histone proteins forming nucleosomes. 150 bp of DNA wound around each histone core
Amino acid - CORRECT ANSWER - 20 different molecules used to build proteins. Coded
by genes. Organic. Contains a Carboxyl (-COOH) and an Amino (-NH2) group
Central dogma - CORRECT ANSWER - flow of information in cell from DNA to RNA to
protein
Codon - CORRECT ANSWER - set of 3 nucleotides
DNA - CORRECT ANSWER - deoxyribonucleic acid. contains deoxyribose sugar (5
carbon), phosphate group, and a nitrogenous base (ATCG). Hydrogen bond connects nucleotides
(A=T C=G). Directs production of RNA by transcription. Nitrogen-containing base on 1' carbon.
Hydroxyl group on 3'. Phosphate group on 5'. Encodes information
Frameshift variant - CORRECT ANSWER - caused by insertions or deletions of a single
gene
Genotype - CORRECT ANSWER - genetic makeup
,Missense variant - CORRECT ANSWER - point mutation, single nucleotide change
results in codon that codes for different amino acid
Nonsense variant - CORRECT ANSWER - genetic alteration that causes premature
termination of a protein
nucleic acid - CORRECT ANSWER - many nucleotides linked in a long chain. DNA or
RNA
phenotype - CORRECT ANSWER - physical makeup
protein - CORRECT ANSWER - provide structure and function (phenotype)
RNA - CORRECT ANSWER - provides portability. Directs production of proteins by
translation
Silent variant - CORRECT ANSWER - don't have observable effect on organism's
phenotype
Single Nucleotide Polymorphisms (SNP) - CORRECT ANSWER - common SNVs, occur
in >1% of population, create human genetic diversity
Transcription - CORRECT ANSWER - DNA-->RNA. mediated by RNA polymerase. 2
(RNAPII) complex and produces primary RNA molecule. Primary RNA molecule is spliced and
processed to become a mature mRNA
Translation - CORRECT ANSWER - RNA-->Protein. Produces a protein from protein
coding region of a mature mRNA. 5' and 3' of mRNA molecule aren't translation-ed and are
called untranslated regions (UTRs)
, Transcription factor - CORRECT ANSWER - TF. Protein that controls the rate of
transcription of genetic information from DNA to mRNA, by binding to a specific DNA
sequence
Nucleosome - CORRECT ANSWER - made up of 150 bps of DNA wrapped around
protein core composed of 8 histone proteins
Base - CORRECT ANSWER - measurement of DNA length indicating one nucleotide.
Unit can be modified by multipliers.
Kilobase (Kb) - CORRECT ANSWER - 1,000 bases
Megabase (Mb) - CORRECT ANSWER - 1,000,000 bases
genetic variation - CORRECT ANSWER - difference in genotype. Variants in regulation
regions and UTRs can affect RNA or protein levels. Variant affecting protein structures have to
be in the protein coding region -> activity/specificty of enzyme TAA.
Variable Expressivity - CORRECT ANSWER - degree of phenotypic expression differs
among individuals with same genotype
Alleles - CORRECT ANSWER - different forms of genes
Autosomal - CORRECT ANSWER - have 46 chromosomes (44 autosomes and 2 sex
chromosomes). Diploid
Carrier - CORRECT ANSWER - individuals who are heterozygous in recessive
inheritance
Centromeres - CORRECT ANSWER - highly condensed region of chromosome where
sister chromatids are connected
