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Genetics > Lecture 4 > Flashcards

Lecture 4 Flashcards

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1
Q

Tests that have a high __________ are best for SCREENING.

A

sensitivity

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2
Q

Tests that have a high __________ are best for DIAGNOSIS.

A

specificity

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3
Q

How is genetic testing limited by mosaicism?

A

individual has 2 different genotypes within their body so testing can easily produce false negatives

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4
Q

Which of the following types of genetic tests look for a specific genotype?

a. protein testing
b. enzyme assay
c. DNA testing

A

c. DNA testing

* protein testing and enzyme assay test for biochemical phenotype NOT genotype

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5
Q

DNA testing tends to be highly __________.

A

specific

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6
Q

Protein testing and enzyme assay tends to be highly _________.

A

sensitive

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7
Q

Karyotyping is best employed for what genetic abnormalities?

A

aneuploidies

*e.g. Turner’s Syndrome or Down Syndrome

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8
Q

In a karyotype, cells are grown until maximal chromosomal condensation occurs. At what phase of the cell cycle is that?

A

prometaphase or metaphase

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9
Q

Which of the following genetic tests are best to identify unstable repeat expansion disorders?

a. Recombinant DNA
b. Southern Blotting
c. ASO probe
d. FISH
e. Comparative Genome Hybridization (CGH)

A

b. Southern Blotting

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10
Q

Which of the following is the best method to evaluate for suspected diseases of single or very few-nucleotide substitutions or deletions (e.g. Sickle Cell Disease)?

a. Recombinant DNA
b. Southern Blotting
c. ASO probe
d. FISH
e. Comparative Genome Hybridization (CGH)

A

c. ASO probe

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11
Q

Which of the following tests is best for suspected diagnosis of a microdeletion or single-nucleotide substitution disorder?

a. Recombinant DNA
b. Southern Blotting
c. ASO probe
d. FISH
e. Comparative Genome Hybridization (CGH)

A

d. FISH

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12
Q

This test is most useful in identifying chromosomal structural abnormalities too small to be seen on karyotyping but too large or undefined to perform a FISH.

a. Recombinant DNA
b. Southern Blotting
c. ASO probe
d. FISH
e. Comparative Genome Hybridization (CGH)

A

e. Comparative Genome Hybridization (CGH)

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13
Q

If you have a phenotypic suspicion for a genetic abnormality what test would you do after a normal or non-diagnostic karyotype has been performed?

a. Recombinant DNA
b. Southern Blotting
c. ASO probe
d. FISH
e. Comparative Genome Hybridization (CGH)

A

e. Comparative Genome Hybridization (CGH)

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14
Q

What is the most common indication for genetic testing?

A

newborn screening

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15
Q

Sickle cell anemia is most common in which of the following populations?

a. African American
b. French Canadian
c. Caucasian
d. Mediterranean, Southeast Asian

A

a. African American

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16
Q

Cystic fibrosis is most common in which of the following populations?

a. African American
b. French Canadian
c. Caucasian
d. Mediterranean, Southeast Asian

A

c. Caucasian

17
Q

Tay Sachs disease is most common in which of the following populations?

a. African American
b. French Canadian
c. Caucasian
d. Mediterranean, Southeast Asian

A

b. French Canadian

18
Q

Thalassemias and hemoglobin variants are most common in which of the following populations?

a. African American
b. French Canadian
c. Caucasian
d. Mediterranean, Southeast Asian

A

d. Mediterranean, Southeast Asian

19
Q

Which of the following prenatal diagnostic tests can be done at 16-18 weeks of gestation?

a. chorionic villus sampling
b. amniocentesis
c. percutaneous umbilical blood sampling
d. maternal serum screening

A

b. amniocentesis

20
Q

Which of the following prenatal diagnostic tests can be done at 10-12 weeks of gestation?

a. chorionic villus sampling
b. amniocentesis
c. percutaneous umbilical blood sampling
d. maternal serum screening

A

a. chorionic villus sampling

21
Q

This is a method by which parents at high risk of passing a severe genetic abnormality to their progeny can conceive without risking passing a genetic abnormality to a fetus

A

preimplantation

22
Q

What type of testing can be used to determine if an individual is at risk of developing a late-onset genetic disease or whether they are at increased risk of a multifactorial genetic disease?

A

presymptomatic /predisposition testing

23
Q

What type of testing is often used in the offspring of individuals with Huntington’s disease to determine if they will develop the disorder?

A

presymptomatic /predisposition testing

24
Q

This type of testing in indicated for a disease for which the inheritance is multifactorial (e.g. Alzheimer’s)

A

Susceptibility testing

25
Q

what is the potential benefit of germ line gene therapy?

A

potential for offering a permanent therapeutic effect for all who inherit the target gene

26
Q

What is the potential adverse effect of integrating vectors for gene addition?

A

may lead to cancers if integrated near a promoter region

27
Q

What is the main difference between non-integrating and integrating vectors for gene addition?

A
  • non-integrating: do not rely on insertion of new genetic material into the genome
  • integrating: new genetic material is inserted into the genome
28
Q

What are the 3 types of gene therapy?

A
  • Zinc fingers
  • TALENS
  • CRISPR
29
Q

RNA viruses use ___________ to convert RNA to DNA.

A

reverse transcriptase

30
Q

Delivery of genes by a virus is termed _______.

A

transduction

31
Q

What are the 2 most commonly used types of virus for viral vectors?

A
  • retroviruses

- adenoviruses

32
Q

What are the 2 main uses for lipoplexes?

A
  • cancer

- cystic fibrosis

33
Q

In this type of gene therapy method a foreign gene replaces defective or a missing gene.

A

gene augmentation

34
Q

What are the 2 types of gene inhibition and what differentiates them?

A
  • antigene: Oligonucleotide that binds to double-stranded DNA, blocking transcription of gene
  • antisense: Oligonucleotide that binds to mRNA, blocking translation into proteins
35
Q

What is the first in vivo gene therapy approved by the FDA?

A

Voretigene neparvovec (Luxturna)

for treatment of Leber Congenital Amaurosis (LCA)

Genetics (4 decks)

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