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WorksheetsHuman Genetics Exam Review
Total questions: 113
Worksheet time: 2hrs 30mins
What term describes the study of chromosome structure, involving location of genes on a chromosome?
karyogenetics
cryptogenetics
hereditarianism
What is the term for the belief that heritable traits are determined solely by environmental effects- ex: acquired characteristics
(a)
In females, meiosis II occurs:
before birth
immediately after birth
after puberty
after menopause
In males, meiosis I and II occur
as a fetus
after puberty
before puberty
before death
Crossing over must occur
true
false
Which of the following are NOT viable trisomies:
trisomy 21
trisomy 13
trisomy X
trisomy 18
What is the term to describe any physical/chemical agent that increases birth defects?
(a)
What is the term used to describe mating between close relatives?
(a)
What is the term that describes the first affected family member that seeks treatment?
(a)
What is incomplete dominance?
phenotype is between parents
phenotype is exactly the same as one parent
phenotype where both parental genes are expressed
What term describes when 2 or more gene mutations cause the same disease- ex: breast cancer, or cancer in general is caused by multiple things
(a)
What term describes when a single gene affects more than 1 disease phenotype?
Ex: 1 gene is responsible for many fx, therefore, mutation is a big problem
(a)
What process involves taking a nucleus from one cell and moving it to another?
(a)
What term describes when each cell contains a mix of mutant and normal mitochondria?
(a)
What is the term for sex that is determined at fertilization?
gonadal sex
phenotypic sex
chromosomal sex
gender identity
Which of the following is not true about the SRY gene?
it plays a major role in the formation of testis from gonadal streak
it is found on the short arm of a chromsome
it is relatively unchanged and passed down through generations
it is found on the X and Y chromosome
The fetus is asexual for the first _______ weeks
7
5
3`
6
Males have ______ ducts, females have _________
mullerian; wolffian
wolffian; wolffian
wolffian; mullerian
mullerian; mullerian
What condition is chracterized by a mutation in the SRY gene leading to a lack of testes formation?
fragile X syndrome
Hemophillia
Turner Syndrome
Sweyer Syndrome
A deficiency of 5-alpha reductase causes:
lactose intolerance
development of male genetalia
disrupted formation of male genitalia leading to female appearance @ birth
disrupted testis formation
What term describes traits that only appear in a certain gender?
(a)
In sex-influenced traits, male heterozygotes _________
express the trait, while females don't
do not express the trait
do not express the trait; females do
What term describes phenotypes that fall into 2 or more distinct categories that are not overlapping
(a)
An H value of 0 means:
genetics are responsible for differences in phenotype
genetics play a small role or no role in phenotype
What term describes an inactive X chromosome that stains darkly and is found in the nuclei of somatic (body) cells
(a)
Monogenic traits are also called (a)
Chromatin is made up of:
DNA
Acetyl group
Glucose
proteins
What is the term to describe DNA that is looser, has genes that can be transcribed, and is easier to access?
(a)
What term describes the appearance of a trait in both twins?
(a)
Which of the following are examples of trans elements?
proteins
DNA sequences
transcription factors
DNA polymerase
What term describes genes that are transcribed continuously?
housekeeping genes
genes related to apoptosis
fetal hemoglobin gene
introns
What term describes a mutation where the wrong nucleotide is added to the DNA sequence, producing the wrong amino acid, but the protein can still function the same as it would normally?
silent mutation
missense mutation (non-conservative)
conservative missense mutation
nonsense mutation
Which of the following is false about DNA mutation/Chromosomal mutations?
larger genes are more likely to mutate
ionizing radiation causes mutations in DNA
A/T nucleotides are more likely to mutate
more repeated nucleotides increase the risk of mutation
What term describes flat, planar molecules that stick between base pairs and disrupt DNA synthesis?
(a)
Removal of an amino group from cytosine produces the nucleotide (a)
What term describes a chromosomal # that is not an exact multiple of the haploid #- ex; some specific chromosomes are too little or too many
(a)
What term describes a chromosomal # that is multiple of the normal haploid chromosome set?
(a)
What type of translocation occurs if chromosome 14 and 21 are joined causing Down Syndrome (Trisomy 21)?
(a)
What reproductive technology involves selecting gametes, fertilizing them in a dish and implanting the resulting zygote in the uterus?
(a)
What type of Assisted Reproductive Technology is considered the most assisted or invasive?
IVF
GIFT
ZIFT
ICSI
What term describes when the zygote implants into the fallopian tubes and not the uterus?
(a)
Which of the following is not a health issue associated with ART?
normal birth weight babies
increase in chances of multiple births at a time
increased chances of ectopic pregnancy
increased risk of transmitting defects to children
What term describes the process of determining if someone has a genotype for a genetic disease/if someone is a carrier?
(a)
What term describes when a phenotype is in between that of the parents?
(a)
What term describes when the phenotype does not equal the disease in all cases- if not all people with the phenotype express symptoms of the disease?
(a)
What term describes when the severity of disease varies between people- for example, if some people w/ the disease express a very severe case of it, and some express it less severely, or w/out all the symptoms?
(a)
Which of the following are viable trisomies?
trisomy X
trisomy 13
trisomy 18
trisomy 21
What term describes when the effect of one gene is masked or modified by one or more genes?
(a)
A mutation always results in the resulting protein being affected?
true
false
What term describes when both parental alleles are expressed equally- both alleles are equally dominant?
incomplete dominance
penetrance
epistasis
codominance
Retinitis pigmentosa causes night blindness and loss of peripheral vision by age 20. One form of this disease is the result of the insertion of a single nucleotide into the coding region of the gene. Because of this insertion, 199 amino acids are deleted from the protein. Due to which mutation does this occur?
missense
nonsense
frame shift
conservative mutation
What factors magnify the effects of mutations?
migration
carriers
natural selection
genetic drift
What term describes the process of testing for a gene variant that affects metabolism of a specific drug/drugs in general?
pharmacogenics
pharmacogenomics
pharmacogenetics
metagenomics
Mendelian traits are determined by ________ genes, while complex traits arise from influences of _________ gene(s)
+1 gene; 1
1 gene; 1/1+ genes and the environment
1 + the environment; 1/1+ genes
0 (just environmental influences); 1/1+
What term describes the field that analyzes and compares genomes?
(a)
What term describes the time during prenatal development when a structure is sensitive to damage from a mutation or environmental intervention?
(a)
What mode of inheritance is characterized by a trait that does not skip generations and occurs equally among males and females?
(a)
What term describes an individual with 2 different recessive alleles in the same gene?
(a)
What term describes the most common phenotype in a population for a gene?
(a)
What term describes a molecule that elicits an immune response?
(a)
What term describes a characteristic that appears to be inherited, but occurs due to the environment?
(a)
What term describes the sex that has half as many x-linked genes as the other?
(a)
What term describes a carrier of an X-linked recessive trait that expresses the phenotype bc the normal allele is inactivated in some tissues?
(a)
Which term describes the probability that a trait will occur based on its incidence in a population + is based on observation
(a)
Which protein, when misfolded is involved in autism, and is found in the presynaptic membrane of a neuron w/ the nt glutamate?
(a)
What type of nervous system cell supports and nurtures neurons?
schwann cells
neuroglial cells
myelin sheath
dendritic cells
What describes a field that aims to prevent and treat disease based on individual differences in gene variants, environmental exposures and lifestyle factors such as diet and exercise?
(a)
Karyotypes display chromosomes from ___________ to ________
smallest; largest
largest; smallest
What portion of the genome does exome sequencing provide info on? (What does the exome include?)
all the info in the genome
all parts of the genome that do not encode proteins
all parts of the genome that code for proteins
none of the above
Traditionally, genealogy considers traits, not relationships between people
true
false
Meiosis I is also referred to as:
(a)
What term describes the miscarriage that occurs when a sperm fertilizes a polar body?
(a)
During ovulation, the body releases a ______ oocyte
primary
quaternary
secondary
tertiary
Paternal age affect is associated with:
polygenic diseases
monogenic (single gene) diseases
x-linked diseases
recessive diseases
Which syndromes are characterized by accelerated aging or shortened life, or they make a person appear older than they are?
(a)
Mitochondrial diseases are passed from ___________ to __________
mothers; their partners
fathers; their children
mothers; their children
fathers; daughters
What term describes a mutation that is transmitted to the next generation?
(a)
What term describes chemicals that remove a DNA base, which is then replaced w/ any of the 4 bases?
(a)
Which type of mutation involves replacing a purine (A, G) with a pyrimidine (T, C) and vice versa?
(a)
What term describes a DNA sequence that is very similar to the sequence of a protein-encoding gene, but is not translated into a protein (may be transcribed in mRNA)?
(a)
Which term describes a chromosome where the centromere establishes one long and one short arm?
metacentric
telocentric
acrocentric
submetacentric
No human cell can be polyploid
true
false
Which type of chromosomal inversion includes the centromere in the loop?
(a)
What term describes when both chromosomes or chromosome segments are inherited from one parent?
(a)
What term describes all of the DNA in a haploid set of chromosomes?
(a)
Which of the following is the most specific map of a chromosome (or DNA)?
linkage map
cytogenic map
physical map
sequence map
What is the name for a group of viruses that use reverse transcriptase to copy their genetic information into DNA, which is then inserted into the host's chromosome?
(a)
To qualify for a patent, DNA related inventions must be:
highly marketable
useful to the population
controlled by one wealthy individual
new to the population, but can be obvious or known to experts
What term describes the use or changing of cells/biological materials for specific purposes?
DNA mapping
bioengineering
biotechnology
gene mapping
Which of the following are required when creating recombinant DNA?
restriction enzymes
cloning enzymes
cloning vectors
recipient cells
all of the above
Which technique allows bacteria to use Cas9 (restriction enzyme) to recognize and cut out DA sequences from the genome?
(a)
What term describes the application of genome editing to kill, alter or make infertile a pathogen?
(a)
Genetic testing is performed on ____________, and genetic screening is performed on _____________
a population; an individual
an individual; a population
a population; a population
an individual; an individual
What term describes when a gene and vector are introduced directly into the body as a form of gene therapy- ex: through a catheter snaked to the appropriate organ?
(a)
In the process of gene therapy, the correct DNA sequence is inserted, but this may insert in the chromosome at random, possibly causing effects
true
false
Which of the following is possible with assisted reproductive technology?
replacing the source of a male or female gamete
helping in fertilization
providing a uterus
all of the above
What term describes the inability to conceive a child after a year of frequent sexual intercourse without contraceptive use?
(a)
Infertility increases in females as age increases because of:
dna degradation
problems w/ the oocyte (abnormal chromosomal # leads to issues w/ pregnancy)
RNA interference
increased risk of other health problems
If a woman's uterine tubes are blocked, but she wants to have a child, what form of ART can she use?
Intrauterine insemination (IUI)
gestational carrier
intracytoplasmic sperm injection (ICSI)
invitro fertilization (IVF)
Which of the following must occur for a population to be in Hardy-Weinberg Equilibrium?
population must be large
members must not mate randomly
members can migrate
there is no natural selection or mutation
What term describes marriage within a community where spouses may be distantly related and unaware of this?
(a)
What term describes when allele frequencies change from one neighboring population to another?
(a)
What term describes a collection of deleterious (negative) recessive alleles in a population?
(a)
What term describes how a harmful recessive condition can remain prevalent if a carrier (heterozygote) has an advantage that improves their chances of reproduction?
(a)
What term describes programs/policies that control human reproduction w/ the intent of changing the genetic structure of the population?
(a)
What term describes the entry of a specific gene variant into a genome from an individual of a dif species/subspecies?
(a)
Which of the following, when detected, causes an immune response?
antibody
pathogen
foreign antigen
Which of the following is not part of the innate immune response?
swelling
skin barrier
t cell activity
mucous membranes
What term describes a cytokine that causes fever, triggering a higher body temp that kills some bacteria and viruses?
(a)
Which type of transplant involves tissue from an individual who is not genetically identical to the recipient, but is the same species?
isograft
allograft
autograft
xenograft
Which gene in DNA profiling is used to determine the gender of the person whose DNA sample was found?
(a)
A single, tall peak on STR indicates that a person is a heterozygote
true
false
What term describes a group of genes/DNA variations on a chromosome that are inherited together?
(a)
