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In order for Mendel’s monohybrid cross experiment to work, the true breeding plants in the parent generation must be:
Homozygous
Heterozygous
Homozygous (monohybrid= testing one trait and crossing traits)
If both parents are homozygous for the dominant allele the probability that you will display the dominant phenotype is:
0%
25%
50%
100%
100%
If both parents are homozygous for the recessive allele the probability that you will display the dominant phenotype is:
0%
25%
50%
100%
0%
The sour tasting phenotype discovered by accident in 1931.
Gene (TAS2R38) discovered in 2003.
Dominant allele corresponds to the sour tasting phenotype.
Recessive allele (multiple forms) corresponds to the non-tasting phenotype.
In a cross between a true-breeding taster and non-taster
In a cross between a true-breeding taster and heterozygote
In a cross between two heterozygous parents?
Reminder: Taster is the dominant phenotype
What are the possible genotypes of their offspring? Probability of each genotype?
What are the possible phenotypes of their offspring? Probability of each phenotype?
—-
In a cross between a true-breeding taster and non-taster the probability of their offspring showing the tasting phenotype is:
0%
25%
50%
75%
100%
100%
In a cross between a true-breeding taster and heterozygote the probability of the TT genotype is:
0%
25%
50%
75%
100%
50%
In a cross between two heterozygous parents the probability of being a non-taster is:
0%
25%
50%
75%
100%
25%
If you have two of the same alleles (i.e., TT or tt) then you have what type of genetic variant?
Homozygous
Heterozygous
De novo
SNP
Homozygous
If two heterozygous parents produce offspring, the odds that they will produce homozygous offspring are:
0%
25%
50%
100%
50%
Mendel’s law of dominance states that:
Two different alleles will both exert effects on the trait. For example, if an allele for being short and an allele for being tall are present then the trait will be having average height
The dominant allele masks the effect of the recessive allele
The dominant and recessive allele will both exert effects depending on which part of the body the gene is in.
B- the dominant allele masks the effect of the recessive allele
What is the probability of the offspring in this design having yellow skin?
0%
25%
50%
75%
75%
What is the probability of having wrinkly skin?
0%
25%
50%
100%
25%
What is the probability of the offspring having the yyrr genotype (i.e., homozygous for the recessive genotype for both traits)?
1/16
2/16
6/16
12/16
1/16
Conclusion
Dihybrid same results as monohybrid (3-1)
According to Mendel’s second law, if I know what gene you carry for Trait X then I can predict the gene you carry for Trait Y:
True
False
False
All human traits follow a mendelian pattern of inheritance, where a single gene causes the outcome
True
False
False
Mendel used the dihybrid cross design to demonstrate his second law, which states that:
Alleles are inherited randomly
Alleles for one trait are inherited independent of alleles for another trait
One allele can mask or dominate another allele
Dihybrid cross designs work
B: Alleles for one trait are inherited independent of alleles for another trait
Because of 3-1 ratio
In a dihyrbid cross design, the odds of being homozygous recessive for both traits is:
1/2
1/4
1/8
1/16
1/16
For an autosomal recessive disorder to present in the offspring the risk increasing alleles must be present in:
Both parents
Only the paternal side
Only the maternal side
Both parents
1-22 autosomes (same in all individuals)
Both parents because you only get one copy from each parent and you need both
For an X-linked dominant disorder to present in biological male (XY) offspring the dominant allele must be present in:
Both parents
Only the paternal side
Only the maternal side
Only the paternal side (Y chromsome comes from dad)
What is the order of RNA, Protein, and DNA
DNA → RNA → Protein
What are A, T, C, and G
DNA bases
A direct role of genes is to:
Control your heart rate
Provide instructions for making proteins (also known as polypeptides)
Keep our legs warm
Make ribosomes
Provide nstructions for making prteins (also known as polypeptides)
Most of the genome varies across individuals.
True
False
False (.1 percent differnece)
Most of the genome consists of protein coding genes
True
False
False (99% coding, 1% noncoding)
When a gene is expressed, the directional flow of information reflects:
RNA -> DNA -> protein
Protein -> RNA -> DNA
DNA -> RNA -> protein
DNA -> protein -> RNA
DNA → RNA → protein
In a Robertsonian translocation:
One chromosome fuses with another chromosome
Two chromosomes exchange regions
Recombination between two homologous chromosomes occurs
Two sets of chromosomes are deleted
One chromosome fuses with another chromosome
What is recombinations between two homologous chromsomes?
Meiosis
What is it called when two sets of chromsomes are delted?
Doesn’t happen
Karyotyping refers to the process of:
Photographing chromosomes
Aneuploidy
Nondisjunction errors
Trinucleotide repeat expansions
A- photographing chromosomes
Deletion of an entire chromosome is a form of:
Partial trisomy
Aneuploidy
Partial monosomy
A robertsonian translocation
Aneuploidy
What disorder is associated with anepleuidt in chromsome 21
Down syndrome— most common there because 21 is a lot smaller
What disorder is associated with anepleudity in chromsome X
Klinefelters
Organisms that have more chromosomes are more biologically complex
True
False
False
How many autosomal chromosome pairs do humans have?
11
22
23
40
22
23rd chromsome is X and Y chromsome
The primary gene that was being investigated for its association with depression using candidate gene methods was?
DRD2 (dopamine receptor gene)
SCL6A4 (or 5-HTTLPR; serotonin transporter gene)
GABRA1 (GABA receptor gene)
ADH1B (alcohol dehyrdogenase gene)
B
The Common Disease-Common Variant Hypothesis (CDCVH) states:
Common diseases should be caused by genetic variants that are equally common
Common diseases are caused by rare variants with large effect
Common diseases are due to new genetic mutations
Common diseases are caused by aneuploidy
A- Common diseases should be caused by genetic variants that are equally common
Candidate gene studies failed because of:
Uncontrolled population stratification
Low statistical power
Selecting genes that weren’t associated with the phenotype
All of the above
All of the above
Most common genetic variants (MAF > 1%) that are associated with human complex traits have:
Huge effects on the phenotype
Medium effects on the phenotype
Small (very tiny) effects on the phenotype
Small (very tiny) effects on the phenotype
Linkage studies rely on:
The knowledge of where a particular genetic marker for another trait is physically located on the genome
Studying patterns of inheritance within families
The ability to measure the whole genome
A and B
A and B
Candidate gene studies sought to:
Scan the entire genome for genetic effects
Use family-based patterns of inheritance to identify the location of a risk increasing gene
Measure a specific genetic variant based on theory and prior research to see if it is associated with the outcome of interest
Measure a specific genetic variant based on theory and prior research to see if it is associated with the outcome of interest
Candidate gene studies failed to replicate due to:
Small participant sample sizes used to try and detect small effects (i.e., low statistical power)
Failure to control for population stratification
Picking genes that were not actually associated with the traits
All of the above
All of the above
Microarray GWAS studies involve directly measuring (typing):
The entire human genome
The entire human exosome
All common variants (MAF > 1%)
A subset of ~500,000 common variants
A subset
If we find that a genetic variant is associated with a trait, we know that is the causal variant in the population:
True
False
False
Genome-wide studies are currently representative of the different ancestry groups in the global population
True
False
False
The most common plot associated with a genome-wide association study is known as:
Miami Plot
Mahattan plot
Scatter plot
Correlation matrix
Manhattan plot
The x-axis of a manhattan plot are the:
Log10 p-values of the GWAS effects
Chromosomes
centiMorgans
linkage
Chromosomes
The most well-powered GWAS has discovered all of the genetic signal in certian human complex traits
True
False
False
Height: very heritable
GWAS: 40% heritability of height from half a million people
GWAS uses recent technology that only measures most common variants
LD-score regression can be used to estimate
Heritability
Genetic correlations
The effects of individual genetic variants
A and B
A and B
Polygenic scores are most predictive when using:
Only the SNPs (genetic variants) that are significantly associated with the trait
The top 5% of SNPs
The top 50% of SNPs
All SNPs
A
X-chromosome inactivation is a form of
A. GWAS
b. Methyli
C. Epigenetics
D. Cola
Epigenetics
genomic imprinting means
the process by which only one copy of a gene in an individual (either from their mother or their father) is expressed, while the other copy is suppressed.
Functional annotations are constructed using ___ __
GWAS data
Epigenetic reprogramming refers to
How methylation is measured
That sex cells erase 99% of epigenetic signatures
Transcription
C.
Epigenetic research most commonly studies
Methylation
Transcription
Genotypes
Histone Marks
Mythlation
The environmental exposure most often associated with changes in methylation is
Smoking
Exercise
Depression
Alzheimers
Smoking
Measures all genetic varaints
Whole genome sequencing
GWAS examunes the association between a phenotype and
All genetic variants
All common genetic variants
Intronic reigons
Exonic regions
All common genetic variants
If a biological mother is heterozygous for an automsomal dominant disorder, the probability that her offspring will have the disorder are
0%
25%
50%
100%
50%
A researcher selectively breeds mice that are not aggessive at all for 30 generations. She finds that the aggressiveness scores of the two lines of mice do not differ significant;y. Does this result provide evidence for genetic influences on aggression?
Yes
No
No— nondiverging lines means no genetic influence
Two mice differ significantly in senstivity to alcohol. Does this result provide evidence for genetic influences on alcohol sensitivity?
Yes
That same study found that some of the mice were much more sensitivty to alcohol than others. What does this result tell us?
Genetic influences on sensitivity to alcohol
Evviornmental influences on sensitivity to alcohol
No genetic influences on sensitivty to alcohol
No enviornmental influences on sensivitivy to alcohl
Evviornmental influences on sensitivity to alcohol