Molecular Biology Chapter 18-22 Study Guide

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Questions and Answers

Match the following genetic disorders with their genetic mechanisms:

Fragile X syndrome = CGG triplet repeat expansion in the FMR1 gene Huntington's disease = CAG repeat insertion in protein sequences Sickle cell anemia = Point mutation in the beta-globin gene Cystic fibrosis = Deletion of a phenylalanine in the CFTR gene

Match the following types of blots with their uses:

Southern blot = DNA detection Northern blot = RNA detection Western blot = Protein detection In situ hybridization = Localization of nucleic acids in tissues

Match the following terms with their definitions:

Missense mutation = Change in a single amino acid in a protein Nonsense mutation = Change that results in a premature stop codon Frameshift mutation = Insertion or deletion causing a shift in reading frame Silent mutation = Change that does not alter the amino acid sequence

Match the following RNA effects with their descriptions:

Long non-coding RNA = Initiates X chromosome inactivation mRNA = Template for protein synthesis rRNA = Structural component of ribosomes tRNA = Brings amino acids to the ribosome during translation Signup and view all the answers

Match the following processes with their outcomes:

Methylation = Inactivation of a chromosome Cell swelling = Cell lysis and death Nucleotide insertion = Increase in protein length Triplet repeat expansion = Increased severity of disease symptoms Signup and view all the answers

Match the following genes to their disorders:

FMR1 gene = Fragile X syndrome HTT gene = Huntington's disease CFTR gene = Cystic fibrosis HBB gene = Sickle cell anemia Signup and view all the answers

Match the following proteins with their roles:

FMR protein = Regulates synaptic plasticity Hemoglobin = Carries oxygen in the blood CFTR protein = Regulates chloride channels Huntingtin = Involved in neuronal health Signup and view all the answers

Match the following mutations with their consequences:

UGA to UGG = Missense mutation resulting in longer protein CAG repeat expansion = Neuronal degeneration in Huntington's disease CGG repeat expansion = Fragile X syndrome due to FMR protein deficiency Base pair substitution = Possible silent mutation if amino acid remains unchanged Signup and view all the answers

Match the following outcomes with their causes:

Fragile X syndrome = Expanded CGG repeats Huntington's disease = Expanded CAG repeats Sickle cell disease = Single base mutation in hemoglobin Cystic fibrosis = Delta F508 mutation in CFTR gene Signup and view all the answers

Match the following terms with their definitions:

Transcriptome = The set of all RNAs encoded by the genome SNP = Single nucleotide polymorphism CNV = Copy-number variation RFLP = Restriction fragment length polymorphism Signup and view all the answers

Match the following techniques with their primary usage:

PAGE = Technique for protein size separation GWA = Finding gene associations with diseases Western blotting = Identification of proteins in a sample Proteomics = Study of the protein content of cells Signup and view all the answers

Match the terms related to genetic variations with their descriptions:

SNP = Variation at a single base pair CNV = Variations in the number of copies of DNA sequences RFLP = Change in DNA fragment lengths after restriction enzyme digestion GWA = Association analysis to find disease-linked genes Signup and view all the answers

Match the following genetic variations with examples:

SNP = Different alleles affecting traits CNV = Autism-related genomic variation RFLP = Genetic markers for pedigree analysis GWA = Survey of genetic factors contributing to diseases Signup and view all the answers

Match the following concepts to their relevance in genomics:

Transcriptome = Functional genomics scope PAGE = Used for protein identification SNPs = Key in genome-wide association studies RFLP = Mapping diseases through genetic markers Signup and view all the answers

Match the following definitions with their relevant genetic terms:

Acetylation = Modification of histones affecting transcription Transcription inhibition = Preventing gene expression Protein size identification = Goal of PAGE Genome analysis = Utilizing RFLP techniques Signup and view all the answers

Match the following techniques with their applications:

2D gel = Analysis of complex protein mixtures GWA = Identifying disease-related SNPs RFLP = Detecting variations in fragment length PAGE = Separating proteins by size Signup and view all the answers

Match the following pairs related to diseases with their genetic concepts:

Autism = Example of CNV impact SNPs = Associated with trait variability RFLP = Genetic analysis for familial relationships GWA = Pathway to discovering genetic disorders Signup and view all the answers

Match the following uses of terms with their descriptions:

SNPs in GWA = To find disease-causing genes RFLP in pedigree studies = Mapping family relations CNV in genetic disorders = Exploring variations in genome architecture Acetylation of histones = Influences gene transcription levels Signup and view all the answers

Match the type of mutation with its description:

Somatic mutations = Are inherited by future generations Germ-line mutations = Occur in somatic tissue and are inherited by future generations Signup and view all the answers

Match the process of cell death with its description:

Apoptosis = Programmed cell death triggered by viral infection or DNA damage Necrosis = Programmed cell death that occurs naturally during development Signup and view all the answers

Match the type of cell division with its description:

Mitosis = Somatic cells divide by this process Meiosis = Occur in somatic tissue during cell division Signup and view all the answers

Match the effect of a mutation with its description:

Mutation = Never affects phenotype or cause genetic variation in human height No mutation = Always affects phenotype or cause genetic variation in human height Signup and view all the answers

Match the outcome of PCR with the number of cycles:

2 copies = After 30 cycles 4 copies = After 20 cycles 230 copies = After 30 cycles 1 copy = After 20 cycles Signup and view all the answers

Match the characteristic of apoptosis with its description:

Apoptosis = Can be triggered by viral infection or DNA damage Necrosis = Can be triggered by viral infection or DNA damage Signup and view all the answers

Match the type of DNA repair pathway with its description:

Base excision repair = Repairs bulky DNA lesions Mismatch repair = Repairs incorrectly paired nucleotides Nucleotide excision repair = Repairs damaged bases Direct DNA repair = Repairs altered nucleotides Signup and view all the answers

Match the description of germ-line mutations with its outcome:

Germ-line mutations = Will be inherited by future generations Somatic mutations = Will not be inherited by future generations Signup and view all the answers

Match the type of mutation with its description:

Transition = A base substitution where a purine is changed for a purine Transversion = A base substitution where a purine is changed for a pyrimidine Signup and view all the answers

Match the process of PCR with its outcome:

PCR = Produces 1 copy of the gene after 20 cycles Signup and view all the answers

Match the characteristic of somatic mutations with its description:

Somatic mutations = Occur in somatic tissue and are not inherited by future generations Germ-line mutations = Are involved in production of germ cells Signup and view all the answers

Match the type of mutation with its effect on the protein sequence:

Missense = No protein sequence or protein sequence is longer Nonsense = Protein sequence will be shorter Silent = Protein sequence remains the same Neutral = Protein sequence is shorter or longer Signup and view all the answers

Match the type of DNA repair pathway with its function:

Homologous recombination = Repairs double-strand DNA breaks Nonhomologous end joining = Repairs incorrectly paired nucleotides Signup and view all the answers

Match the type of mutation with its example:

Transition = A → G or T → C Transversion = A → C or G → T Missense = UCA (serine) → UUA (leucine) Silent = UAA (stop) → UUA (leucine) Signup and view all the answers

Match the type of DNA repair pathway with its result:

Base excision repair = Original DNA structure is restored Nucleotide excision repair = Modified DNA structure is restored Direct DNA repair = Altered nucleotides are changed back Mismatch repair = Incorrectly paired nucleotides are corrected Signup and view all the answers

Match the type of mutation with its effect on the codon:

Missense = Codon changes to code for a different amino acid Nonsense = Codon changes to a stop codon Silent = Codon remains the same Neutral = Codon changes to code for the same amino acid Signup and view all the answers

Match the type of DNA repair pathway with its mechanism:

Base excision repair = Replaces damaged bases with correct ones Nucleotide excision repair = Removes bulky DNA lesions Direct DNA repair = Reverses altered nucleotides Mismatch repair = Corrects incorrectly paired nucleotides Signup and view all the answers

Match the type of mutation with its effect on the amino acid sequence:

Missense = Changes one amino acid to another Nonsense = Premature termination of amino acid sequence Silent = No change in amino acid sequence Neutral = No change or change in amino acid sequence Signup and view all the answers

Match the type of bees with their DNA sequence characteristics:

Queen bee = Demethylated DNA sequence for fully expressed genes Worker bee = Methylated DNA sequence with Dnmt3 enzyme Drone bee = Methylated DNA sequence with Dnmt3 enzyme All bees = Same DNA sequence, but different epigenetic effects Signup and view all the answers

Match the comparison of DNA sequences with their characteristics:

Queen bee vs Drone bee = Same DNA sequence, different epigenetic effects Queen bee vs Worker bee = Same DNA sequence, different epigenetic effects Worker bee vs Male bee = Same DNA sequence, no consumption of royal jelly Female bee vs Male bee = Different DNA sequence, same environmental factors Signup and view all the answers

Match the types of genes with their characteristics:

Ortholog genes = Homologous genes found in different species from a common ancestor Paralog genes = Homologous genes found in the same organism due to gene duplication Epigenetic genes = Genes affected by environmental factors PCR genes = Genes amplified through polymerase chain reaction Signup and view all the answers

Match the terms with their definitions:

Homologous genes = Genes with same function, but different species Gene duplication = Process of creating paralog genes Epigenetic effects = Changes caused by environmental factors Polymerase chain reaction = Technique to amplify a specific gene Signup and view all the answers

Match the bee types with their epigenetic characteristics:

Queen bee = Demethylated DNA sequence for fully expressed genes Worker bee = Different epigenetic effects due to environment Drone bee = Regular DNA sequence with Dnmt3 enzyme Female bee = Same epigenetic effects as male bee Signup and view all the answers

Match the gene characteristics with their examples:

Ortholog genes = Hemoglobin in different species Paralog genes = Duplicated genes in the same organism Epigenetic genes = Genes affected by royal jelly PCR genes = Amplified genes through polymerase chain reaction Signup and view all the answers

Match the DNA sequence comparisons with their conclusions:

Queen bee vs Worker bee = Different epigenetic effects due to environment Queen bee vs Drone bee = Same DNA sequence, different epigenetic effects Worker bee vs Male bee = Same DNA sequence, no consumption of royal jelly Female bee vs Male bee = Different epigenetic effects due to environment Signup and view all the answers

Match the PCR characteristics with their consequences:

One copy of the gene in the starting material = Produces 2^20 copies of the gene after 20 cycles of PCR 20 cycles of PCR = Produces 2^20 copies of the gene Gene duplication = Produces paralog genes Polymerase chain reaction = Amplifies a specific gene from a trace amount of DNA Signup and view all the answers

Match the gene types with their characteristics:

Ortholog genes = Found in different species, same function Paralog genes = Found in the same organism, due to gene duplication Epigenetic genes = Affected by environmental factors, but same DNA sequence PCR genes = Amplified through polymerase chain reaction, but not a type of gene Signup and view all the answers

Study Notes

DNA Repair Pathways

Damaged base in DNA is repaired by base excision repair pathway.
Incorrectly paired nucleotides in DNA are repaired by mismatch repair pathway.
Bulky DNA lesions can be repaired by nucleotide excision repair pathway.
Altered nucleotides in DNA can be changed back into their original structures by direct DNA repair pathway.
Double-strand DNA breaks can be repaired by homologous recombination and nonhomologous end joining pathways.

Types of Mutations

Transition: a base substitution mutation where a single purine is changed for a purine (A-G, G-A) or a pyrimidine is changed for a pyrimidine (T-C, C-T); 4 possible scenarios.
Transversion: a base substitution mutation where a purine can switch for a pyrimidine and so on; 8 possible scenarios.
Missense: a base substitution that changes the codon from one amino acid to another (e.g., UCA (serine) → UUA (leucine)) or changes a stop codon to a codon for an amino acid (e.g., UAA (stop) → UUA (leucine)).
Nonsense: a base substitution that changes a codon to a stop codon.
Silent: a base substitution that does not change the amino acid sequence.
Neutral: a base substitution that does not affect the function of the protein.

Histone Acetylation

Sequence with most R and K are more likely to be acetylated.

Transcriptome and Proteomics

The set of all RNAs encoded by the genome is called transcriptome.
PAGE (polyacrylamide gel electrophoresis) is a technique to separate a mixed sample of proteins to identify according to protein size, used for proteomics and western blotting.

Genetic Variations

SNP (single nucleotide polymorphism) is a DNA variation in a single base pair equivalent to different alleles, used for GWA (genome-wide association).
CNV (copy-number variation) is a section of the genome that is repeated and the number of repeats in the genome varies between individuals, used for studying diseases such as autism.
RFLP (restriction fragment length polymorphism) is a technique used to generate genetic markers for genomic analysis, useful for mapping diseases, pedigree, and family relation.

Genome-Wide Association

GWA is used to find SNPs in order to find genes that are causing disease in a genome.

Epigenetics

Epigenetics is the study of heritable changes in gene function that occur without a change in the underlying DNA sequence.
Epigenetics can affect gene expression, but not alter the DNA sequence.

Ortholog and Paralog Genes

Ortholog: homologous genes, found in different species from a common ancestor (e.g., hemoglobin in humans and monkeys).
Paralog: homologous genes, same organism (same individual) due to gene duplication (e.g., hemoglobin in humans).

PCR (Polymerase Chain Reaction)

PCR is used to amplify a specific gene from a trace amount of DNA.
If one copy of the gene is present in the starting material, after 20 cycles of PCR, 2^20 copies of the gene can be produced.
If two copies of the gene are present in the starting material, after 20 cycles of PCR, 2^20 x 2 copies of the gene can be produced.

Somatic and Germ-Line Mutations

Somatic mutations: occur in somatic tissue, not involved in production of germ cells, passed on to daughter cells, but not to daughters/sons.
Germ-line mutations: occur in cells that give rise to gametes, inherited by future generations, passed on to daughters/sons.

Apoptosis and Necrosis

Apoptosis: programmed cell death, can be triggered by viral infection, DNA damage, or mitochondrial damage.
Necrosis: unprogrammed cell death, caused by injury, unexpected circumstances.

X Chromosome Inactivation

X chromosome inactivation is started by long non-coding RNA, which covers the chromosome, then methyl groups attach, leading to DNA methylation and inactivation of the chromosome.

Fragile X Syndrome

Genetic mechanism: CGG triplet repeats increased to 100's or even 1,000's of copies, can't produce enough FMR protein (fragile X mental retardation).

Huntington's Disease

Genetic mechanism: germ line mutation where insertion of CAG repeats into the protein sequences occur (excess of glutamine), causes the progressive breakdown of nerve cells in the brain.

Other Concepts

Southern blot: a technique used to detect specific DNA sequences.
Northern blot: a technique used to detect specific RNA sequences.
Western blot: a technique used to detect specific proteins.
In situ hybridization: a technique used to detect specific RNA or DNA sequences in cells or tissues.

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Description

This study guide covers DNA repair pathways, including base excision repair, mismatch repair, nucleotide excision repair, and direct DNA repair. It also discusses transition and transversion mutations, and DNA repair mechanisms such as homologous recombination and nonhomologous end joining.

Molecular Biology Chapter 18-22 Study Guide

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Questions and Answers

Match the following genetic disorders with their genetic mechanisms:

Match the following types of blots with their uses:

Match the following terms with their definitions:

Match the following RNA effects with their descriptions:

Match the following processes with their outcomes:

Match the following genes to their disorders:

Match the following proteins with their roles:

Match the following mutations with their consequences:

Match the following outcomes with their causes:

Match the following terms with their definitions:

Match the following techniques with their primary usage:

Match the terms related to genetic variations with their descriptions:

Match the following genetic variations with examples:

Match the following concepts to their relevance in genomics:

Match the following definitions with their relevant genetic terms:

Match the following techniques with their applications:

Match the following pairs related to diseases with their genetic concepts:

Match the following uses of terms with their descriptions:

Match the type of mutation with its description:

Match the process of cell death with its description:

Match the type of cell division with its description:

Match the effect of a mutation with its description:

Match the outcome of PCR with the number of cycles:

Match the characteristic of apoptosis with its description:

Match the type of DNA repair pathway with its description:

Match the description of germ-line mutations with its outcome:

Match the type of mutation with its description:

Match the process of PCR with its outcome:

Match the characteristic of somatic mutations with its description:

Match the type of mutation with its effect on the protein sequence:

Match the type of DNA repair pathway with its function:

Match the type of mutation with its example:

Match the type of DNA repair pathway with its result:

Match the type of mutation with its effect on the codon:

Match the type of DNA repair pathway with its mechanism:

Match the type of mutation with its effect on the amino acid sequence:

Match the type of bees with their DNA sequence characteristics:

Match the comparison of DNA sequences with their characteristics:

Match the types of genes with their characteristics:

Match the terms with their definitions:

Match the bee types with their epigenetic characteristics:

Match the gene characteristics with their examples:

Match the DNA sequence comparisons with their conclusions:

Match the PCR characteristics with their consequences:

Match the gene types with their characteristics:

Study Notes

DNA Repair Pathways

Types of Mutations

Histone Acetylation

Transcriptome and Proteomics

Genetic Variations

Genome-Wide Association

Epigenetics

Ortholog and Paralog Genes

PCR (Polymerase Chain Reaction)

Somatic and Germ-Line Mutations

Apoptosis and Necrosis

X Chromosome Inactivation

Fragile X Syndrome

Huntington's Disease

Other Concepts

Studying That Suits You

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