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Questions and Answers
Match the following genetic disorders with their genetic mechanisms:
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:
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:
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:
Match the following RNA effects with their descriptions:
Match the following processes with their outcomes:
Match the following processes with their outcomes:
Match the following genes to their disorders:
Match the following genes to their disorders:
Match the following proteins with their roles:
Match the following proteins with their roles:
Match the following mutations with their consequences:
Match the following mutations with their consequences:
Match the following outcomes with their causes:
Match the following outcomes with their causes:
Match the following terms with their definitions:
Match the following terms with their definitions:
Match the following techniques with their primary usage:
Match the following techniques with their primary usage:
Match the terms related to genetic variations with their descriptions:
Match the terms related to genetic variations with their descriptions:
Match the following genetic variations with examples:
Match the following genetic variations with examples:
Match the following concepts to their relevance in genomics:
Match the following concepts to their relevance in genomics:
Match the following definitions with their relevant genetic terms:
Match the following definitions with their relevant genetic terms:
Match the following techniques with their applications:
Match the following techniques with their applications:
Match the following pairs related to diseases with their genetic concepts:
Match the following pairs related to diseases with their genetic concepts:
Match the following uses of terms with their descriptions:
Match the following uses of terms with their descriptions:
Match the type of mutation with its description:
Match the type of mutation with its description:
Match the process of cell death with its description:
Match the process of cell death with its description:
Match the type of cell division with its description:
Match the type of cell division with its description:
Match the effect of a mutation with its description:
Match the effect of a mutation with its description:
Match the outcome of PCR with the number of cycles:
Match the outcome of PCR with the number of cycles:
Match the characteristic of apoptosis with its description:
Match the characteristic of apoptosis with its description:
Match the type of DNA repair pathway 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 description of germ-line mutations with its outcome:
Match the type of mutation with its description:
Match the type of mutation with its description:
Match the process of PCR with its outcome:
Match the process of PCR with its outcome:
Match the characteristic of somatic mutations with its description:
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 mutation with its effect on the protein sequence:
Match the type of DNA repair pathway with its function:
Match the type of DNA repair pathway with its function:
Match the type of mutation with its example:
Match the type of mutation with its example:
Match the type of DNA repair pathway with its result:
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 mutation with its effect on the codon:
Match the type of DNA repair pathway with its mechanism:
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 mutation with its effect on the amino acid sequence:
Match the type of bees with their DNA sequence characteristics:
Match the type of bees with their DNA sequence characteristics:
Match the comparison of DNA sequences with their characteristics:
Match the comparison of DNA sequences with their characteristics:
Match the types of genes with their characteristics:
Match the types of genes with their characteristics:
Match the terms with their definitions:
Match the terms with their definitions:
Match the bee types with their epigenetic characteristics:
Match the bee types with their epigenetic characteristics:
Match the gene characteristics with their examples:
Match the gene characteristics with their examples:
Match the DNA sequence comparisons with their conclusions:
Match the DNA sequence comparisons with their conclusions:
Match the PCR characteristics with their consequences:
Match the PCR characteristics with their consequences:
Match the gene types with their characteristics:
Match the gene types with their characteristics:
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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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