BMS 230 Final HW Questions
What is PGD?
"preimplantation genetic diagnosis" used for older people with genetic disorders in the family take out the embryo @ 8-celled stage --> remove 1 cell from embryo --> see how many chromosomes it has --> reimplant and continue pregnancy
A chromosome normally has the structure ABCD-centromere-EFGHIJ. Select the term that correctly describes each of the abnormal chromosome structures below. 1. ABCD-centromere-EFGHFGHIJ 2. ABCD-centromere--EFIJ 3. ABCD-centromere-EIHGFJ
1. duplication 2. deletion 3. inversion
How many genes does a human have?
25,000
What is advanced maternal age and how does it contribute to chromosome abnormalities?
35+ 1/250 risk for trisomy 21 most children with trisomy 21 have a mom that is under the @ risk age @ delivery
What are components needed for PCR?
DNA target sequence polymerase primers free nucleotides (dNPTs) thermocycler
What is transcription, what is used in it, and where does it occur?
DNA to RNA (gene expression) RNA polymerase nucleus
All tumors are cancerous.
F
Cancer begins when a cell divides less frequently that it should.
F
Changes in chromosome number, deletions, and duplications can cause cancer, but point mutations cannot cause cancer.
F
Chromosomes in cancer cells exist in normal numbers.
F
Duplication of a chromosome in a cancer cell reduces the copies of an oncogene.
F
Most cancers are the result of a single genetic change.
F
Most cases of cancer are caused by normal chromosomes.
F
Most cases of cancer arise from inheriting a cancer susceptibility allele from a parent.
F
Oncogenes cause cancer when they are inactivated.
F
What are chromosomes doing during meiosis?
I: replicate chromosomes --> separate homologous chromosomes II: create sister chromatids in 4 genetically different cells
What is translation, what is needed for it, and where does it occur?
RNA to protein ribosome cytoplasm
In a ______________ translocation, the long arms of two acrocentric chromosomes fuse to form a single long chromosome.
Robertsonian
A mutation present in all stages of a tumor acts early in the disease process.
T
Chromosomes in cancer cells may bear translocations.
T
Chromothripsis shatters several chromosomes and may kill the cell - or trigger cancer.
T
Somatic cells may develop mutations in cancer-causing genes.
T
The older a tumor is, the more genetic changes it will have.
T
The process of a tumor spreading is called metastasis.
T
Translocations that join parts of nonhomologous chromosomes turn genes into oncogenes.
T
Cancer can result from a failure of ________________.
a cell cycle checkpoint
An __________ fragment does not have a centromere.
acentric
Determine the description of oncogenes.
activation causes cancer cancer entails a gain-of-function activation is usually associated with a point mutation, translocation, or inversion
What is a frameshift mutation?
add/remove something in multiple other than 3
A cell with a single extra chromosome or missing chromosome is _____________.
aneuploid
A chromosome with a point mutation.
balanced
A chromosome with an inversion.
balanced
Genetic counselors help individuals and families to understand the diagnosis and implications of inherited disorders. Which of the following services are provided by genetic counselors?
construction of pedigrees arrangement for testing for genetic disorders discussion of results of genetic tests info about support groups and services
Which of the following events at the cellular level can result in development of cancer?
dedifferentiation activation of cancer stem cells increase in the proportion of stem cells within a tissue defective tissue repair
A tumor suppressor gene mutation that causes cancer is usually a ____________.
deletion
In a _____________, part of a chromosome is missing.
deletion
A _____________ chromosome has two centromere.
dicentric
A ________________ test is one that is available to the general public without input from a physician or genetic counselor.
direct-to-consumer
In a ________, part of a chromosome is present twice.
duplication
A cell with a normal chromosome number is ____________.
euploid
Cells are altered outside the body and then infused in _________ gene therapy.
ex vivo
Activation of a proto-oncogene into an oncogene could occur due to a mutation or a change in the ________________ of the wild-type gene.
expression
Cancer susceptibility is passed onto future generations when a ___________ mutation has occurred.
germline
The DNA of a gamete or fertilized ovum is altered in __________ gene therapy.
germline
Which complications of traditional gene therapy can be overcome by the CRISPR-Cas9 system?
immune response to viral vectors retroviruses activating oncogenes inserted genes disrupting off-target genes
DNA is introduced directly into the body in _______ gene therapy, which is the most invasive type of gene therapy.
in vivo
Determine the description of tumor suppressor genes.
inactivation causes cancer cancer entails a loss-of-function often inactivation by a point mutation or deletion
In an ____________, the order of a segment of a chromosome is reversed.
inversion
An _______________ is a chromosome with two identical arms.
isochromosome
Which of the following are characteristics of cancer cells?
loss of cell cycle control dedifferentiated lack contact inhibition can induce blood vessel formation
What technique is utilized in most newborn screening tests?
mass spectrometry
In ____________, one chromosome is missing
monosomy
What is the most common mode of inheritance and what is it?
multifactorial inheritance (genes and environment contribute)
A _____________ test incorporates the results of genetic tests and information about diet, exercise, and lifestyle habits.
nutrigenetic
In a _________________ inversion, the inversion does not include the centromere.
paracentric
What are the advantages of using genetic testing to aid in drug selection for patients? Select all correct answers from the list below.
patients likely to experience adverse reactions to a drug can be identified when several drugs are available for the same condition, the drug most likely to be effective can be selected the response to drug treatment can be monitored the patient's prognosis can be predicted
In a ___________ inversion, the centromere is within the inverted region.
pericentric
A ____________ test detects variants of multiple genes or gene expression patterns that affect drug metabolism.
pharmacogenomic
A _____________ test detects a variant of a single gene that affects drug metabolism.
pharmocogenetic
A cell with extra chromosome sets is _____________.
polyploid
Genes that normally stimulate cell division when it is appropriate are called ___________________.
proto-oncogenes
_____________ is a method of treatment that causes adverse effects by harming healthy cells.
radiation
In a ___________ translocation, two different chromosomes exchange parts.
reciprocal
What treatments alter the phenotype?
removal of affected body part replacement of affected body part treatment of diabetes with insulin enzyme replacement therapy for lysosomal storage diseases substrate reduction therapy
What treatments alter the genotype?
replacement of a mutant allele through gene therapy
What are chromosomes doing during mitosis?
replicate chromosomes --> homologous chromosomes divide --> get exact copy in daughter cells
A ________ chromosome forms when a chromosome loses its telomeres and the ends fuse.
ring
A mutation that occurs in cells that do not develop into gametes is called a ___________ mutation.
somatic
DNA is altered only in cells that are affected with an illness in __________ gene therapy. This type of gene therapy is noninheritable.
somatic
Sporadic cancer is due to ___________ mutations.
somatic
The oldest approach to treating cancer is ___________.
surgery
Cancer cells often have longer telomeres due to reactivation of the enzyme ___________.
telomerase
Traditional treatments for cancer, such as radiation and chemotherapy, are effective because _____________.
they kill rapidly
A fusion protein can be produced due to the _________________ of a proto-oncogene to a site next to another gene.
translocation
In a ____________, parts of two chromosomes have been exchanged.
translocation
In ____________, there is an extra copy of one chromosome.
trisomy
RB1 and p53 are ________________.
tumor suppressors
__________________ is targeted based on genetic information.
tyrosine kinase inhibitor
A chromosome with a deletion.
unbalanced
A chromosome with a duplication.
unbalanced
A chromosome with an extra piece of another chromosome due to translocation.
unbalanced
