Upgrade to remove ads
Only $2.99/month

Genetics Exam 4

Terms in this set (54)

A karyotype of a tumor cell can indicate: SATA
Trisomy
Chromosome rearrangements
whole chromosome loss
whole chromosome duplication
dominant and recessive mutations
Trisomy
Chromosome rearrangements
whole chromosome loss
whole chromosome duplication
What is the first disease to be targeted by the Precision Medicine Initiative aka "All of Us Research Initiative"
cancer
How does a mutation in a proto-oncogene contribute to cancer?
The mutation causes the gene to be overactive or improperly expressed so too much cell division is promoted
The 4 main causes of cancer ultimately lead to ____ in ____
blank 1: mutations
blank 2: genes
Why are there warnings about genetic testing on medications containing Warfarin?
Genetic variations may affect how a patient responds to warfarin
Which of the following processes does NOT normally occur at some point during a lifetime (in someone w/o cancer)
metastasis
Why is genetic sequencing essential in the study of microbiomes?
because most microorganisms cannot be cultured and studied in a lab
A cancers spread is called
metastasis
Sporadic cancers result from
recessive or dominant mutation in a somatic cell.
How could epigenetic modifications contribute to tumor development?
methylation could inactivate a tumor suppressor gene
Genes that normally prevent cell division are
tumor suppressor genes
In what circumstance might you consult the American College of Medical Genetics ACTion sheets?
a newborn screens positive for a metabolic disorder
An individual who is a poor metabolizer of codeine likely has two ____alleles of a ___gene
blank 1: loss of fuction
Blank 2: CYP
Identifies heterozygotes of a recessive condition
population carrier screen
Panel of tests for inborn errors of metabolism
newborn screen
tests embryos or fetuses for chromosomal abnormality or other inherited condition
prenatal screen
identifies disease causing recessive alleles in potential parents
preconception testing
detects a mutation for an adult onset disorder in an individual at high risk
predictive test
detects alleles associated with disease
predisposition test
Predisposition testing
individual has an allele that is -associated with an increased risk- of disease
Predictive testing
individual has an allele that predicts they WILL have the disease or WILL develop the disease as an adult
analysis of an individual to determine if they have an allele that causes disease
predictive test
analysis of individual to determine if they are a carrier for a panel of recessive disorders
preconception comprehensive carrier testing
newborn genome sequencing
analysis of a whole genome of a newborn
What is the significant difference between genome scans and genome sequencing?
scans provide info on a limited number of SNPs, whereas sequencing provides the entire genome sequence
which of the following is an example of pharmacogenomics?
adjusting the dosage of a drug based on an individual genetic composition
Which is an example of a germline gene therapy
a transgenic plant or animal
growth of new blood vessels in and around tumors is called
angiogenesis
When compared to their normal "healthy counterparts, cancer cells:
divide uncontrollably and are dedifferentiated
Which of the following might a genetic counselor do as part of his or her job
explain the inheritance of a specific disorder in a family, evaluate risks for relatives, and advise on genetic testing
cancer that arises from bone tissues
sarcoma
newborn screening identifies certain single-gene disorders by detecting which of the following?
the unusual metabolite or lack of enzymes
mutations in ____ help cancer cells ___
blank 1: p53
blank 2: to evade apoptosis
what are some criticisms/ethical concerns of DTC genome services
the results could be misinterpreted if a consumer does not understand risk
there is no way to verify the "owner of the DNA sample
Results are not consistent between DTC providers
(all are correct)
A couple would like to have a baby, but they are concerned that the baby may inherit a very serious x linked recessive condition that is present in the mothers family history. Which of the following tests may be appropriate for this couple?
sperm selection
Which of the following is a single test that detects if an individual is a carrier for 500 recessive diseases?
preconception comprehensive carrier screening
An individuals microbiome: SATA
may be used as a diagnostic tool in the future
may play a role in developing certain diseases
may play a role in preventing certain diseases
may be unique from another individuals microbiome
How does CRISPR/CAS work?
guide RNA is used to direct an enzyme to cut at a specific DNA site
According to the American College of Medical Genetics and Genomics, whole genome sequencing of patients may reveal ____which should ___
blank 1:incidental findings of mutations
blank 2:be reported to the patient and health care provider
What can personal genome sequencing reveal? SATA
predictive information about late onset genetic diseases
an individuals carrier status for mendelian disorders
novel SNPs
Risk factors for multifactorial diseases
(all are correct)
genome mosaicism
the thought that individuals are a collection of related genomes. Individuals have little populations of cells with distinct genomes
mosaicism
idea that each cell population in an individual may have its own genome which was derived from the zygote genome
occurs from the SAME cell line (zygote)
mutation early in development, cells may behave differently
how is mosaicism caused
caused by errors during chromosomal segregation and DNA replication and can occur during any stage of development
Microchimerism
when individuals have small populations of cells originating from a different zygote (individual)
arises from DIFFERENT cell lines of different zygotes
Chimeras
when an individual has 2 or more -genetically distinct- cell lines that originated from different zygotes (individuals)
Chimeric Antigen Receptor CAR
T-mediated Gene Therapy is a new method of the combination of gene therapy, cell therapy, and immune therapy to address cancer. Patients own t cells are used to attack cancer
oncogenes
dominant cancer causing gene leads to gain of function
hyperactive growth stimulating protein (monkey wrench) leads to constant signaling
-about 50% of human tumors have this mutation
large amounts of normal protein can cause
increasing proliferation
translocation
regions of chromosomes are swapped. When produced in excess (gain of function) it can result in oncogene production
Tumor Suppressor Genes
normally control or block cell division (opposite of oncogenes) encode proteins to prevent cancer from forming
what happens when Tumor Suppressor Genes are mutated?
they lose their function and cannot prevent cancer.
mutations to these genes are typically RECESSIVE
result is no protein or non functioning protein: cell division is NOT under control
How many tumor suppressor alleles must be knocked out to completely lose function
2
DNA repair genes
function to repair spontaneous errors made during DNA replication
mutations accumulate and create environments of more mutations. Mistakes are replicated and passed to daughter cells
balance between proliferation ad differentiation becomes harder to maintain
Mutations in DNA repair genes
can occur in proto-oncogenes or tumor suppressor genes drastically increasing the likelihood of cancer
YOU MIGHT ALSO LIKE...