Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

REPRODUCTIVE TECHNOLOGIES | CYTOGEN FINALS > GENETIC COUNSELING, TESTING & TREATMENT > Flashcards

GENETIC COUNSELING, TESTING & TREATMENT Flashcards

1
Q

Specialized health care service provided by professionals known as genetic counselors
 Primary aim: to help individuals &
families understand and make informed
decisions about genetic conditions that
may affect them or their offspring

A

GENETIC COUNSELING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q
  • Health care professional with a master’s degree who can help patients & their families understand the inheritance pattern of a specific medical condition, evaluate the risk, & possibly navigate the path of genetic testing.
A

GENETIC COUNSELOR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Reasons to seek genetic counseling:

A

i. Family history of abnormal
chromosomes
ii. Elevated risk of single-gene
disease
iii. Family history of multifactorial
disease
iv. Family history of cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Focuses on assessing & discussing the risk of genetic conditions or birth defects in a pregnancy

A

PRENATAL GENETIC COUNSELING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Focuses on helping individuals understand their risk of developing certain genetic conditions that typically manifest in adulthood (cardiac, neurologic, & hematologic conditions)

A

GENETIC COUNSELING FOR ADULT-ONSET DISEASES

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Medical tests that analyze an individual’s DNA to identify changes in specific genes/chromosomes

A

GENETIC TEST

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

GENETIC TESTS THROUGH HUMAN
LIFE CYCLE

A

1) Preconception and Prenatal
2) Newborns
3) Children
4) Adults
5) Posthumous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q
  • “GAMETE DONOR SELECTION
    BASED ON CALCULATIONS”
  • Computer program that predicts the results of meiosis in the gametes of an individual
  • Analyzes possible gamete phenotypes
    of the “recipient” (presumably a woman) & a “plurality of donors” (presumably men), considering penetrance & epistasis
  • “Hypothetical offspring”  Also detects if potential parents are
    close blood relatives
A

PRECONCEPTION AND PRENATAL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q
  • Sperm are labeled with fluorescent
    markers: X-bearing sperm cells glow
    more intensely than Y-bearing sperm
    because the X chromosome is so much
    larger.
  • Sperm are collected & separate them
    into fractions that are enriched for X- bearing or Y-bearing cells, to attempt to
    conceive a girl or a boy, respectively
A

FLOW CYTOMETRY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

It identify genetic conditions or
disorders early in life to enable timely medical intervention, treatment, or
management.

A

GENETIC TESTING FOR NEWBORNS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

analytical chemistry technique that detects abnormal metabolites

A

MASS SPECTOMETRY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

aims to detect certain genetic, metabolic/congenital conditions shortly after birth, even before symptoms become apparent.

A

DNA TESTING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Involves analyzing a child’s DNA to identify genetic variations, mutations, or abnormalities that may be associated with specific medical conditions or
genetic disorders.

A

GENETIC TESTING FOR NEWBORNS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Detects small deletions, duplications, & other CNVs associated with certain
phenotypes.

A

CHROMOSOMAL MICROARRAY ANALYSIS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Diagnoses unrecognized syndromes/ atypical cases; family comparisons
distinguish de novo from inherited
mutations in children.

A

EXOME SEQUENCING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q
  • Genetic testing after death
  • Involve examining DNA samples
    obtained during an autopsy, tissue
    preservation, or using stored biological
    samples from the deceased person
A

POSTHUMOUS GENETIC TESTING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q
  • A service that allows individuals to obtain information about their genetic makeup directly from a company w/o involving a health care professional/medical provider

 Marketed directly to customers via television, print advertisements, or the Internet, & the tests can be bought
online or in stores.

A

DIRECT-TO-CONSUMER GENETIC TESTING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Certain Individuals possess a genetic advantage that predisposes them to excel
in specific sports or physical activities.

A

TEST FOR INBORN ATHLETIC ABILITY

17
Q

Examines an individual’s genetic makeup to
provide personalized dietary recommendations

A

NUTRIGENETICS TESTING

18
Q

Focus on understanding how an individual’s genetic makeup
influences their for medications

A

PHARMACOGENETIC & PHARMACOGENOMIC TETSING

19
Q

detects a variant of a single gene that affects drug metabolism

A

PHARMACOGENETIC TEST

19
Q

detects variants of multiple genes/gene expression patterns that affect drug metabolism

A

PHARMACOGENOMIC TEST

20
Q
A
21
Q
A
22
Q
A
22
Q

 AKA drug repositioning/drug
reprofiling

 Process of identifying new therapeutic
uses for existing drugs that were
originally developed for different
indications

 Less costly than developing new drugs

A

DRUG REPURPOSING

22
Q

Delivers working copies of genes to specific cell types or body parts, Typically as part of modified viruses that function as carriers (vectors)

A

GENE THERAPY

23
Q

Alters the DNA of a gameteor
fertilized ovum, so that all cells of
the individual have the change & the correction is heritable, passing to offspring

A

GERMLINE GENE THERAPY

23
Q

Corrects only the cells that an illness affects & is nonheritable, in which the recipient does not pass the genetic correction to offspring, unless the cells that give risetogametes are inadvertently altered

A

SOMATIC GENE THERSPY

23
Q

COMMON SITES OF
SOMATICGENETHERAPHY
- Can be genetically altered to secrete proteins into the circulation

A

endothelium

24
Q

COMMON SITES OF
SOMATICGENETHERAPHY
- Immature muscle cells given healthy dystrophin genes may treat muscular dystrophy.

A

MUSCLE

24
Q

COMMON SITES OF
SOMATICGENETHERAPHY
- To treat certain inborn errors of
metabolism, only 5% of the liver’s
10 trillion cells need to be
genetically altered.

A

LIVER

24
Q

COMMON SITES OF
SOMATICGENETHERAPHY
-

A
25
Q

COMMON SITES OF
SOMATICGENETHERAPHY
- Gene therapy can reach damaged
lungs through an aerosol spray. Enough cells would have to be reached to trat hereditary emphysema (alpha-1-antitrypsin
deficiency) or cystic fibrosis

A

LUNGS

25
Q

COMMON SITES OF
SOMATICGENETHERAPHY
- Gene therapy can target skin cells
to treat certain skin disorders, such as epidermolysis bullosa

A

SKIN

25
Q
  • Cells are altered outside the body
    & then infused into the
    bloodstream through a vein
A

EX VIVO GENE THERAPY

26
Q

COMMON SITES OF
SOMATICGENETHERAPHY
- “In the living body”, the gene & its
vector are introduced directly into
the body, such as through a
catheter inserted & snaked to the
appropriate organ

A

IN VIVO GENE THERAPY

27
Q

amplify specific DNA sequences from a DNA sample, generating large amounts of the target gene for further analysis, manipulation, or delivery into target cells

A

PCR

27
Q
  • Manipulation & combination of DNA from different sources to create new DNA sequences that encode therapeutic genes or their modified versions.
A

RECOMBINANT DNA TECHNOLOGIES

27
Q

Had severe combined immune deficiency due to adenosise deaminase (ADA) deficiency

A

ASHANTI (“ASHI”) DESILVA

27
Q

 Had ornithine transcarbamylase
(OTC) deficiency & could not
make a liver enzyme required to
break down dietary proteins

 Trillion adenoviruses carried
functional human OTC genes
through a tube into his liver

 Viruses entered not only the
hepatocytes as intended, but also
macrophages that alert immune
system

A

JESSE GELSINGER

28
Q

 Not only delivers a gene to a specific
part of the genome, but can replace a
gene, remove a gene, or add a gene, &
do so in multiple places or insert, correct, or delete multiple genes

 Can be combined with genome
sequencing to engineer an animal
model of a family’s inherited disease, to
refine diagnosis & reveal how the
symptoms arise (family with thoracic
aortic aneurysm & dissection)

A

CRISPR-CAS9 IN DIAGNOSIS AND TREATMENT

28
Q
  • Reactivating the quiescent globin genes can treat the disease
  • Use of induced pluripotent stem cells (iPS cells)→ CRISPR-Cas9 replaces 1sickle cell mutation with a wild type of
    the copy of the beta globin gene
  • Use CRISPR-Cas9 to silence a gene that normally switches fetal hemoglobin production off after birth
A

SICKLE CELL DISEASE

28
Q
  • Enzyme glucocerebrosidase is
    deficient or absent
  • Due to little/no enzyme: buildup of
    substrates lysosomes swell →
    bursting cells
  • Symptoms: enlarged spleen & liver, bone pain, & deficiencies of blood
    cells
  • Variable in age of onset, severity
    of symptoms, & rate of
    progression
A

TYPE 1 GAUCHER DISEASE

REPRODUCTIVE TECHNOLOGIES | CYTOGEN FINALS (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions