Module 1 Flashcards
Which branch of genetics is the oldest?
A: Transmission genetics—started with selective breeding 10,000+ years ago
What is the cell theory, and when was it postulated?
Cell Theory: All cells come from pre-existing cells (Virchow).
Postulated: 1855
________ ________: traits are passed from one generation to another
Transmission genetics
Name four processes responsible for evolutionary change.
Natural selection
Mutation
Migration
Genetic drift
Evolutionary genetics study genetic relations and what?
the evolution of genes and genomes
Molecular genetics studies the inheritance and variation of what 3 things?
Nucleic acids
Proteins
Genomes
What does PCR stand for, and when was it invented?
PCR (Polymerase Chain Reaction) was invented in 1985 by Kary Mullis.
What is Modern Synthesis?
A unified theory of evolution combining genetics, population biology, and natural selection.
In an experiment, what is an independent variable? What is a dependent variable?
Independent variable: The experimental treatment or category being manipulated.
Dependent variable: The outcome or measurement observed in response to the independent variable
A researcher studying breast cancer may unintentionally favor data supporting the hypothesis that BRCA1 mutations increase risk, while dismissing contradictory evidence
This scenario is an example of what?
How hypothesis-based science may be impacted by confirmation bias.
What is the difference b/w genotype and phenotype?
Genotype: Genetic makeup of an organism
Phenotype: Physical (observable) traits
How big is the human genome?
Approximately 3.1 billion base pairs (3.1 Gbp)
______________: Starts with a specific testable question and tests it.
_______________: Collects data without a preconceived hypothesis.
Hypothesis-based
Discovery-based
Name two or more faculty at UCO involved in genetics research.
Dr. Allyson Fenwick: Population genetics of Mediterranean geckos.
Dr. Matthew Parks: Molecular metabarcoding of microbial communities
What is confirmation bias?
Interpreting information to confirm prior beliefs.
Name at least four common qualities of model organisms.
- Cheap to raise
- Few ethical constraints
- Short life cycle
- Historical data availability.
How big is the fruit fly genome?
135 Mbp (megabase pairs).
Research question, IV,DV, Conclusion
O’Roak et al. 2011:
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity1,2. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched for de novo mutations of major effect. We identified 21 de novo mutations, 11 of which were protein altering. Protein-altering mutations were significantly enriched for changes at highly conserved residues. We identified potentially causative de novo events in 4 out of 20 probands, particularly among more severely affected individuals, in FOXP1, GRIN2B, SCN1A and LAMC3. In the FOXP1 mutation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk3. Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs.
Research question: Do de novo mutations contribute to the genetic etiology of autism spectrum disorders (ASDs)?
Hypothesis: De novo mutations play a significant role in ASDs.
Independent variable: Presence of de novo mutations in ASD individuals.
Dependent variable: Types and effects of mutations observed.
Conclusion: De novo mutations substantially contribute to the genetic basis of ASDs
Research question, IV,DV, Conclusion
Qiao et al. 2018:
It is a long-standing question as to which genes define the characteristic facial features among
different ethnic groups. In this study, we use Uyghurs, an ancient admixed population to query
the genetic bases why Europeans and Han Chinese look different. Facial traits were analyzed
based on high-dense 3D facial images; numerous biometric spaces were examined for divergent
facial features between European and Han Chinese, ranging from inter-landmark distances to
dense shape geometrics. Genome-wide association studies (GWAS) were conducted on a
discovery panel of Uyghurs. Six significant loci were identified, four of which, rs1868752,
rs118078182, rs60159418 at or near UBASH3B, COL23A1, PCDH7 and rs17868256 were
replicated in independent cohorts of Uyghurs or Southern Han Chinese. A prospective model
was also developed to predict 3D faces based on top GWAS signals and tested in hypothetic
forensic scenarios
Research question: What genetic differences define characteristic facial features among ethnic groups?
Hypothesis: Significant loci associated with divergent facial traits exist.
Independent variable: Genetic loci of Uyghurs.
Dependent variable: Biometric facial trait data.
Conclusion: Six loci associated with facial traits were identified and verified in different cohorts
How big are typical bacterial cells compared to eukaryotic cells?
Bacterial cells: ~1-10 micrometers.
Eukaryotic cells: ~10-100 micrometers.
What makes homologous chromosomes homologous?
They have the same genes at the same loci but may carry different alleles
Three ways bacterial DNA distinguishes from Eukaryotic DNA
- Circular
- not bound by histones
- found in the nucleoid region.
Which allele is expressed in the phenotype of each of the following genotypes, assuming complete dominance?
Homozygous dominant (AA):
Heterozygous (Aa):
Homozygous recessive (aa):
Homozygous dominant (AA): Dominant allele is expressed.
Heterozygous (Aa): Dominant allele is expressed.
Homozygous recessive (aa): Recessive allele is expressed
What is the term for bacterial cell division?
Binary fission
Q: Diagram the eukaryotic cell cycle and name major events in each stage.
G1 phase: Cell growth.
S phase: DNA replication.
G2 phase: Preparation for mitosis.
M phase: Division into two daughter cells
MATCH EACH TERM WITH THE CORRECT DEFINITION
A. Phenotype, B. Genotype, C. allele, D. genome, E. Genetics, F. Gene, G. heredity, H. DNA, I. Chromosome
- Study of how traits are inherited and expressed.
- The physical and functional unit of heredity, made of DNA.
- Observable traits or characteristics of an organism.
- Molecule that carries genetic instructions for life.
- A specific version of a gene.
- Total genetic material of an organism.
- The passing of traits from one generation to the next.
8.. A structure made of DNA and proteins that contains genes.
- The genetic makeup of an organism
- Genetics
- Gene
- Phenotype
- DNA
- Allele
- Genome
- Heredity
- Chromosome
- Genotype
