Urinalysis Unit 5 - Molecular Diagnostics

The study of all the genes in a cell or organism.

genomics

The study of all proteins.

Proteomics

Person who discovered "nuclein" which is known today as DNA?

Johann Friedrick Miescher

What year was DNA discovered?

1869

Two people responsible for introducing and explaining the structure of DNA.

Watson/Crick

Person who introduced the application of molecular biology to gene amplification and identification.

Kary Mullis

Two people who are responsible for the Human Genome Project.

Francis Collins/J. Craig Venter

A _________ is all the DNA contained in an organism or cell.

genome

A majority of DNA is contained in the ________, however a small amount of DNA is also contained in the ________.

nucleus; mitochondira

The ________ is the physical and functional unit of heredity that is passed from parent to offspring.

gene

Human cells contain ________ pairs of chromosomes.

23

Males have _______ chromosomes and females have _______ chromosomes.

XY; XX

DNA stands for...

deoxyribonucleic acid

Pentoses are sugar molecules that contain...

five carbon atoms

DNA is a double helix that contains...

deoxyribose (a sugar)/phosphoric acid/nucleotide base

DNA is a ________ charged molecule.

negatively

What are the two groups of DNA nucleotide bases?

purines/pyrimidines

What components make up the purine group in DNA?

adenine/guanine

What components make up the pyrimidines group in DNA?

thymine/cytosine

In DNA adenine can only bind to ________.

thymine

In DNA cytosine can only bind to ________

guanine

Purines and pyrimidines are combined through ___________.

hydrogen binding

Strands of DNA are ___________ to each other and will base pair in a(n) _________ fashion.

complementary; antiparallel

Process of separating DNA through applying heat or a strong alkali.

denaturation

Process in which two single strands of DNA are brought together by lowering to temperature or removing a strong alkali.

reannealing

Process of combining two single strands of DNA that are from difference sources.

hybridization

RNA is composed of...

ribose (sugar)/phosphoric acid/base

What components make up the purines group in RNA?

adenine/guanine

What components make up the pyrimidines in RNA?

uricil/cytosine

In RNA, adenine always binds with _________.

uricil

In RNA, cytosine always binds with ________.

guanine

The DNA strand that runs in the 5' to 3' direction is called the __________.

coding strand/leading strand

The DNA strand that runs in the 3' to 5' direction is called the _________.

template strand/lagging strand

Term for short pieces of 3' to 5' strands of DNA.

Okazaki fragments

This enzyme combines the Okazaki fragments.

DNA ligase

DNA replication can only occur during the...

S phase (synthesis phase)

Enzymes that are responsible for breaking the hydrogen bonds that link the complementary chains of DNA.

helicases

Enzyme that unwinds DNA so that RNA transcription can begin.

RNA polymerase

The Central Dogma of DNA is that DNA is __________ to RNA and RNA is __________ to protein.

transcription; translation

The process of creating proteins from RNA coding.

translation

Triplet combinations of genetic code.

codon

What is the start codon?

AUG/methionine

What are the four steps of isolating DNA?

separation of cells; releasing DNA from the cell; isolation of DNA from contaminates; concentration of DNA

Molecular cytogenetics technique in which the nucleus of the cell or its chromosomes can be examined using DNA or RNA probes labeled with fluorescent dyes.

FISH

In ________ FISH testing, sequences can be seen in dividing cells.

metaphase

In ________ FISH, sequences can be detected in the nucleus of non-dividing cells.

interphase

What are the steps in FISH?

prepare probe; prepare patient cells; denature DNA; hybridization; wash and detect

Technique used to exponentially increase the amount of DNA found in a sample.

DNA amplification

PCR stand for...

polymerase chain reaction

What five components are needed for a PCR test?

DNA/deoxynucleotide triphosphates/DNA polymerase/primer/buffer

The first step of the PCR test is __________, which occurs at _______.

denaturation; 94-95 C

The second step of the PCR test is _________, which occurs at ________.

primer annealing; 45-65 C

The third step of the PCR test is _________, which occurs at _________.

primer extension; 72 C

In this step of PCR, DNA strands are separated through heating.

denaturation

In this step of PCR, primers bind to their complementary sequences on the target DNA.

primer annealing

In this step of PCR, DNA sequences are elongated by adding DNA polymerase.

primer extension

In real time PCR, the products are measured...

after or during every cycle

Molecular test used to detect a particular pathogen in a specimen of blood, tissue, or body fluid.

NAT/NAAT

What five viruses are commonly tested for at blood donation centers using molecular testing?

HIV/HCV/HBV/West Nile/Zika

What the the five main (broad) uses of molecular diagnostics in medicine?

diagnostic testing/newborn screening/presymptomatic treatment/carrier screening/prenatal diagnosis

BRCA1 and BRCA2 mutations are associated with a predisposition to...

breast cancer/ovarian cancer

CML is caused by a shortened chromosome ____, called the ________.

22; Philadelphia chromosome

The Philadelphia chromosome is due to a __________ between chromosome _________.

transolcation; 9 and 22

What methodology is a more sensitive than FISH for detecting leukemic cells?

RT-PCR

The investigation of single genes or systems of genes that determine the responsiveness to drugs.

pharmacogenomics

Pharmacogenomics is used to find the right drug for the ________.

right disease.

The study of variations within single genes or systems of genes in an individual that affect the responsiveness to drugs.

pharmacogenetics

Pharmacogenetics is used to find the right drug for the ________.

right individual

False results in molecular diagnostics is usually due to __________.

contamination

Term used to describe the obligation to do good.

beneficence

Term used to describe the obligation to avoid harm.

non-maleficence

Term that refers to the potential responsibility of a physician to reveal confidential genetic information about their patient with a hereditary disease to their family members who are at risk for that disease.

duty to warn

Term referring to a persons right to be truthfully and clearly informed informed of his/her condition, treatment options, and given the right of self-determination to participate in medical decisions that affect them.

autonomy

Term for the right of an individual to have privacy in regard to their health care and medical records.

confidentiality

Term used to describe the equitable distribution and access to health care services, along with fair and equitable treatment in society.

justice

The ________ is the sequence of genes that are specific for a particular disease

expression pattern

A ________ is a missing nucleotide or another portion of the DNA sequence.

deletion

A ________ is an extra DNA nucleotide or portion of DNA sequence.

insertion

A _________ is a nucleotide of a sequence substitution that codes for a different amino acid.

missense

A ________ is a nucleotide substitution that ends in early termination of the protein manufacturing process.

nonsense

A __________ is a change in the number of chromosomes that leads to a chromosomal abnormality.

aneuploidy