Genetica examen 27.

01

1). How do GWAS differ from candidate gene studies?

a. starting from a theoretical hypothesis

b. do not start from a theoretical hypothesis
c. the researcher chooses polymorphisms, in genes that encode proteins in the biological
mechanisms underlying the phenotype
d. most of the known SNPs, from the whole genome, are studied
e. a limited number of polymorphisms is usually studied

2). Okazaki Fragments:

a. are complementary to a sequence on the 3'-5' strand, which serves as a template

b. are synthesized in the 3'-5' direction
c. are synthesized in the 5'-3' direction
d. are complementary to a sequence on the 5'-3' strand, which acts as a template
e. are involved in DNA replication

3). If the phenotypic correlation is 0.54 in monozygotic twins and 0.33 in dizygotic twins,
what is the effect of the shared environment?

a. 0.14
b. 0.51
c. 0.12
d. 0.22
e. 0.33

4). What do you know about 5-HTTLPR?

a. was associated, in a study on candidate genes, with anxiety as a trait

b. is found in the serotonin transporter gene
c. it is an indel type polymorphism
d. influences the transcription level of the 5-HTT gene
e. the interaction of 5-HTTLPR x recent stressful events would contribute to the
pathogenesis of depression

5). The genetic code represents the correspondence between:

a. mRNA
b. proteins
c. DNA
d. amino acids
e. codons
6). What is the variable element, which encodes information, in the structure of DNA?

a. the chains
b. deoxyribose
c. hydrogen bridges
d. the sequence of nitrogenous bases
e. the 5' end

7). What methodological principles adopted in GWAS give them a better methodological
quality, compared to twin studies?

a. focus on functional polymorphisms

b. very large samples, which give statistical power to search for small or very small
genotype-phenotype associations
c. replication in two independent samples
d. correcting the significance threshold for testing multiple hypotheses
e. studying SNPs

8). What is the method of twin comparisons based on?

a. Mendelian transmission
b. the assumption that the environment in which monozygotic and dizygotic twins grow up is
similar
c. the presumption of equal environment
d. the known difference between the degree of genotypic similarity in monozygotes and
dizygotes
e. the causal role of genes in behavior

9). What are chromosomes made of?

a. centromere
b. histones
c. chromatin
d. chromatids
e. DNA

10). In the monohybridization experiments in which Mendel crossed pure pea varieties, how
many individuals in the F1 generation were heterozygous?

a. half
b. 3 out of 4
c. a quarter
d. everyone
e. 1 in 4
11). Promoter:

a. is found upstream of the start sequence of the gene

b. is essential for the initiation of transcription
c. is part of the ribosome
d. is a DNA sequence
e. is an RNA sequence
12). According to the effect on transcription, gene variations are divided into:

a. polymorphisms
b. functional
c. recessive
d. non-functional
e. mutations

13). A human gene:

a. contains introns
b. is a nucleotide sequence on DNA
c. contains exons
d. is one of over 20,000
e. encodes a protein

14). Differential susceptibility theory:

a. conceptualizes the role of genes through the lens of context sensitivity (plasticity alleles)
b. conceptualizes the role of genes in terms of disease risk (risk alleles)
c. tries to explain both adaptive behavior and maladaptive behavior
d. focuses on interactions between genetic predispositions and positive and negative
environmental factors
e. tries to explain exclusively the occurrence of diseases

15). A hypofunctional allele:

a. blocks gene transcription

b. is associated with a lower level of transcription of the gene
c. is created by a genetic variation in the promoter
d. does not block gene transcription
e. produces an amino acid substitution

16). Which of the statements below are supported empirically?

a. in the case of behavior and mental illnesses, we cannot talk exclusively about the
environment
b. between any two individuals, they differ very little in the genome (about 1%)
c. in the case of behavior and mental illnesses, we cannot speak of exclusively genetic
determinism
d. behavior is polygenic and its genetic variant involves hundreds or thousands of genetic
variations
e. all behaviors are the result of gene-environment interactions

17). Twin studies have estimated that the genetic variant of depression is 30-40%. The
variance explained by SNPs associated with depression in the largest GWAS to date is
0.89%. What is this problem called?
a. gene-environment interaction
b. pleiotropic effect
c. reproductive matching
d. dominant effect
e. lack of heritability

18). What types of bonds are there between neighboring deoxynucleotides on a DNA
strand?

a. CNVs
b. SNPs
c. hydrogen bridges
d. phosphodiesteric
e. polyadenylic

19). What does microarray or SNP array mean?

a. hybridization of some single-stranded DNA fragments from the genotyped individual of

"probe" sequences with complementary sequences to the regions of interest
b. amplification, i.e. copying a DNA region thousands of times
c. separation by molecular weight of the pieces of DNA that contain the alleles of a genetic
variation
d. amplification with dideoxynucleotides with a certain nitrogenous base, which stop
elongation
e. characterization of endophenotypes

20). According to the results of the 1000 Genomes Project, what order of magnitude is the
number of SNPs in the human genome:

a. tens of millions
b. tens of thousands
c. hundreds
d. millions
e. thousands
21). Caspi's study on depression:

a. indicated that a polymorphism in the 5-HTT gene moderates the effect of recent stress
b. was based on a diathesis-stress hypothesis
c. was later reinterpreted from the perspective of differential susceptibility theory
d. is an example of a study on a gene-environment interaction
e. showed that a polymorphism in the MAOA gene moderates the effect of childhood
maltreatment

22). What does a significant phenotypic correlation between the parents of twins in a sample
indicate?

a. reproductive matching
b. violation of the equal environment presumption
c. high heritability
d. that the twins are not representative of the general population
e. the effect of chorionicity

2. 3). What is an endophenotype?

a. any intermediate phenotype, between genes and disease

b. a biological mechanism of a disease
c. a psychological mechanism of a disease
d. an innate phenotype
e. a phenotype that cannot be measured

24). What was the purpose of the Human Genome Project?

a. improving the Sanger sequencing method

b. description of all SNPs in the human genome
c. identification of common genetic variations in humans
d. identification of specifically human phenotypes
e. complete sequencing, nucleotide by nucleotide, of human DNA

25). The main criticism of candidate gene studies has been related to low replicability. What
was the main cause of this limit?

a. the samples used were too small and did not confer sufficient statistical power
b. were susceptible to errors of type I (false positive effects) and II (false negative effects)
c. focused on polymorphisms
d. could not study SNPs
e. they used PCR for genotyping
26). What is crossing-over or recombination?

a. mixing the characters of the parents in the children

b. the process by which the sequences corresponding to introns are removed from mRNA
c. the process by which chromosomes can exchange genetic material during meiosis
d. random separation of chromosomes during gamete generation
e. the process by which the sequences corresponding to exons are removed from mRNA

27). What did Gregor Mendel discover in his experiments on peas?

a. characters (phenotypes) like those studied by him are determined by a pair of hereditary
factors
b. the hereditary factors from the parents segregate randomly
c. one hereditary factor comes from each parent
d. hereditary factors for different characters (phenotypes) are transmitted independently
e. when the hereditary factors in a pair differ, only one can be phenotypically expressed

28). What does imputation refer to?

a. the derivation of polygenic scores based on the genotypes significantly associated with
the phenotype
b. identification of the majority of SNPs in the genome based on the linkage disequilibrium
between them
c. phenotype-genotype association in GWAS
d. calculation of heritability based on SNPs
e. genotyping a sample of several hundred thousand SNPs, through SNP arrays

29). What does homozygous mean?

a. genotype with identical alleles

b. genotype with different alleles
c. recessive genotype
d. dominant genotype
e. Mendelian character

30). The ACE model tested in the analyzes of twin studies refers to:

a. shared environment
b. unshared medium
c. dominant type genetic effects
d. additive genetic effects
e. high heritability