Pathophysiology Test 1

The purpose of the Human Genome Project was to \_____ researchers with knowledge regarding the \_______ DNA sequence so they could \______ common and rare \_________.

equip, human, treat, illnesses

The results of the Human Genome Project were \_____ of \_____ of genes linked to specific \_______ and \_______ were identified.
- It provided a \______ for human genome study in health, disease, and \_______ to medication (pharmacogenetics).

tens, thousands, disorders, traits, foundation, response

DNA has a \_____ helix

double

What are the nitrogenous bases of DNA?

Adenine, Thymine, Cytosine, Guanine

The function of DNA is to \______ and \_______ genetic \_______.

store, transfer, information

RNA is \_____ stranded and \_______ than DNA.

single, shorter

What is the different nitrogenous base for RNA?

uracil

The function of RNA is to code for \______ \____ and act as a \_____ between DNA and ribosomes.

amino acids, messenger

Transcription\=

copy

Transcription is when \______ is copied into \_____.

DNA, mRNA

During transcription, RNA \_______ uses \_____ as a template to create mRNA.

polymerase, DNA

Translation\=

paste

Translation is when \______ codes are \______ into \_____.

mRNA, translated, proteins

During translation ribosomes read:

mRNA transcript

The function of proteins is to make:

proteins

tRNA has one end bind to 3 \__________ sequence on \______, and the other end contains the corresponding \_______ \______ for the nucleotide sequence.

nucleotide, mRNA, amino acid

Amino acids are linked by:

peptide bonds

Genes are the \_______ unit of DNA. Changes in the DNA can be linked to \________.

fundamental, disease

The purpose of a gene and its relationship with amino acids:
Genes are like \_______, they contain \_____ that tell your cells to code for certain \________. Thus genes, specify the sequence of \______ \______ to be used for production of proteins.

blueprints, instructions, proteins, amino acids

A gene mutation is an \__________ of the \_________ code.

alteration, genetic

Insertion

extra nucleotide

Deletion

removal of a nucleotide

Substitution

one nucleotide for another

Three types of gene mutation:

insertion, deletion, substitution

A karyotype is the complete set of human:

chromosomes

How many pairs are in a complete set of human chromosomes?

23

How many pairs of chromosomes are autosomal(somatic)?

22

How many pairs of chromosomes are sex chromosomes(gametes)?

1

XX

female

XY

male

A karyotype can be used to \________ chromosomal abnormalities.

identify

Alleles that carry different traits

heterozygous

Alleles that have identical traits

homozygous

When only one allele is needed for expression:

dominant

When both alleles are needed for expression:

recessive

Genotype\=

genetic code

Phenotype\=\______ expression of the genes

physical

- Genetic \________ is the ratio of people with \_______ compared to \________.
- High penetrance indicates almost \_____ individuals with the gene express \________.
- Example BRCA1 has 85% penetrance

penetrance, phenotype, genotype, all, phenotype

- Genetic \________ is the \_______ of the genetic disorder.
- May vary for a given condition
- Example: \_________ syndrome

expressivity, severity, Marfan's

Multifactorial \__________ is the \______ of one or more genes plus \________triggers.

Inheritance, combination, environmental

The majority of diseases have this pattern:

multifactorial inheritance

Examples of multifactorial inheritance include:

hypertension, diabetes, cancer

Multifactorial inheritance:
- Single-nucleotide polymorphisms (SNP's) involve a \_____ in one \_____ of a gene \______.

change, nucleotide, sequence

Example of Multifactorial Inheritance:

AACGT to ATCGT

Multifactorial inheritance can have \______ effects if improper \_____ \_____ coded.
Example: \_____ \____ anemia

profound, amino acid, sickle cell

Mitochondrial DNA is inherited from the:

mother

Mitochondrial DNA can be \______ by free radicals.
- B/c they lack the \_____ process of DNA found in the nucleus.
- This causes a \_____ mutation rate because of that plus its high \___________ rate.

damaged, repair, high, replication

The damage by free radicals to mitochondrial DNA can be implicated in diseases such as:

diabetes, cancer, and heart failure

\__________mitochondrial DNA can be \__________with \________ mitochondrial DNA.

Defective, replaced, normal

Proto-oncogenes are normal genes that control \_________ \____________ /stimulate \_____ \_____.

cell proliferation, cell growth

Oncogenes to proto-oncogenes: \____________ of proto-oncogenes lead to \__________ \___________. This mutation causes \________ cell \___________ or insuppressible \____________ growth.

Mutation, activated oncogenes, uncontrolled, proliferation, cancerous

Onco-proteins are produced by:

oncogenes

Onco-proteins participate in several cellular process but the most concerning thing about them is that they turn the cell into a:

tumor

Tumor-suppression genes inhibit \__________ cell proliferation.

uncontrolled

Example of a tumor suppression gene:
- The tumor suppressor gene that stops mitosis:

p53

A mutation of the tumor suppressor gene p53 may lead to:

uncontrolled cell growth

Viruses like \_____ can activate an \_______. This could eventually lead to \______.

HPV, oncogene, cancer

Knudsen's Two-Hit Hypothesis:
- Both \_____ must be damaged.
1- initial \______ allele mutation
2- mutation or \________ to the other allele

alleles, hereditary, damage

Knudsen's Two Hit Hypothesis holds primarily true unless a disease is:

autosomal dominant

Define: abnormal number of chromosomes

aneuploidy

Down Syndrome

trisomy 21

Edwards Syndrome

trisomy 18

Patau Syndrome

trisomy 13

Define: A piece of a chromosome breaking off and joining another chromosome

translocation

Define: A piece of chromosome is broken off and lost

deletion

The purpose of a genogram is to allow the patient and the clinician to see a multigenerational \_______ and hereditary \____________ through the family line.

history, patterns

Cystic fibrosis is abnormal condition of the \______ channels.

chloride

Cystic fibrosis is diagnosed with a \_____ \_____ test.

chloride, sweat

Cystic fibrosis is \_________ \______ , and a dysfunction in the CFTR gene.

autosomal recessive

Marfan's Syndrome is \_______ \_______. It is a \_______ \______ disorder, due to \________.

autosomal dominant, connective tissue, fibrillin,

Marfan's Syndrome is caused by a gene mutation on chromosome:

15

The implications of Marfan's include \_______ disease. Mainly aortic \_______ and dissection--\>major cause of morbidity.

cardiovascular, dilation

Signs and Symptoms of \________:
- Tall stature
- kyphosis (hunchback)
- ligament hypermobility
- heart murmur
- dysrhythmia

Marfan's

Tay Sachs is:

autosomal recessive

Tay Sachs involve:

death of neurons

Turner Syndrome is a chromosomal abnormality resulting in:

only one X chromosome

Klinefelter syndrome:

XXY

Down Syndrome is:

autosomal recessive

Fragile X syndrome is X linked \______, so males are more likely to express the trait.

dominant

Huntington's: \_____ \______

autosomal dominant

Huntington's is the progressive \_______ of \____________.

degradation, oligodendrocytes

The RB1 gene linked to retinoblastoma is labeled 13q2. What can we conclude about this gene?
A: It is located on the 15th chromosome
B: It is located on the the long arm of the chromosome
C: It is located at \#2 sub-band of the chromosome
D: It is located on the short-arm of the chromosome

B

RNA leaves the nucleus and directs the cell to carry out a specific kind of protein synthesis at the ribosomes in a process called...
A: Translation
B: Transcription
C: Transformation
D: Mutation

A

A male with a rare autosomal dominant trait marries a phenotypically normal woman. What proportion of their children should show the trait?
A: 100%
B: 75%
C: 50%
D: 25%

50%

Which of the following could lead the cell to undergo uncontrolled proliferation:
A: p53 mutation
B: Proto-oncogene
C: Oncogene
D: Oncoproteins
E: HPV

a, c, d, e

Which of the following disorders are characterized by a missing X chromosome?
A: Huntington's
B: Tay Sach's
C:Klinefelter's
D: Turners

d

A patient with Marfan's syndrome is most likely to present with(select all that apply):
A: kyphosis
B: tall stature
C: kyphoscoliosis
D: limited ligament mobility
E: heart murmur

b,c,e

Eustress is the stress that stimulates a person \_______

positively

Distress is the stress that stimulates a person \_____

negatively

Selye's Stress Response Theory is:

General Adaptation Syndrome

Selye theorized that overexposing the body to stress would cause general adaptation syndrome which is:
- a coordinated \__________ to the stress that would maintain \__________.

response, homeostasis

The three stages of general adaptation syndrome:

alarm, resistance, exhaustion

The alarm stage of Selye's general adaptation syndrome is an:

activation of the CNS, SNS, and adrenal glands

The alarm stage of Selye's general adaptation syndrome; the SNS releases\_______, which activates the \_______ or \______ response.

norepinephrine, fight, flight

The alarm stage of Selye's general adaptation syndrome; the \_______ system is activated.
-The hypothalamus releases \_____
- The anterior \_______ releases \______
-The \_______ cortex releases \______
-The \_______ pituitary releases \_____ (vasopressin)
-The adrenal \_______ releases \______ and \______.

endocrine, CRF, pituitary, ACTH, adrenal, cortisol, posterior, ADH, medulla, epinephrine, norepinephrine

The alarm stage of Selye's general adaptation syndrome; the release of \_______ by the \______ cortex causes a chain of events:
- \_______ blood \______
-in the short-term enhances \______ response
-in the long-term \________

cortisol, adrenal, increase, glucose, immune, immunosuppression

The resistance stage of Selye's general adaptation syndrome is when the body \_____ off a \____ through continued \______ an catecholamine (\____/\____) release.

staves, stressor, hormonal, epi/norep

In the resistance stage of Selye's general adaptation syndrome;
-if the stress \______, the \_____ induces \_____
-if the stress \______, the body's response \_____ over time

subsides, PNS, relaxation, continues, lessens

The exhaustion stage of Selye's general adaptation syndrome is when the \______ to the stressor \______ be maintained.

response, cannot

In the exhaustion stage of Selye's general adaptation syndrome;
- Stress \______ the body
- feeling run down, overwhelmed, and unable to \_____
- \_______ stress: Long-term \_______ suppresses the \_______ system
- \_______ risk for infection

overwhelms, cope, chronic, cortisol, immune, increases