Lecture 4 Flashcards by Murilo Zanette

Q

Tests that have a high __________ are best for SCREENING.

A

sensitivity

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Q

Tests that have a high __________ are best for DIAGNOSIS.

A

specificity

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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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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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Q

DNA testing tends to be highly __________.

A

specific

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Q

Protein testing and enzyme assay tends to be highly _________.

A

sensitive

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Q

Karyotyping is best employed for what genetic abnormalities?

A

aneuploidies

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

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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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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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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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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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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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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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Q

What is the most common indication for genetic testing?

A

newborn screening

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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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Q

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

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

Study These Flashcards

A

c. Caucasian

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

Study These Flashcards

A

b. French Canadian

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

Study These Flashcards

A

d. Mediterranean, Southeast Asian

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

Study These Flashcards

A

b. amniocentesis

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

Study These Flashcards

A

a. chorionic villus sampling

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

Study These Flashcards

A

preimplantation

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?

Study These Flashcards

A

presymptomatic /predisposition testing

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?

Study These Flashcards

A

presymptomatic /predisposition testing

Q

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

Study These Flashcards

A

Susceptibility testing

what is the potential benefit of germ line gene therapy?

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

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

may lead to cancers if integrated near a promoter region

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

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

What are the 3 types of gene therapy?

- Zinc fingers - TALENS - CRISPR

RNA viruses use ___________ to convert RNA to DNA.

reverse transcriptase

Delivery of genes by a virus is termed _______.

transduction

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

- retroviruses | - adenoviruses

What are the 2 main uses for lipoplexes?

- cancer | - cystic fibrosis

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

gene augmentation

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

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

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

Voretigene neparvovec (Luxturna) for treatment of Leber Congenital Amaurosis (LCA)