Brainscape's Knowledge GenomeTM

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


See full index

NRS 232 Pathophysiological Processes - MHCC > CH 3 Genetic Basis of Disease > Flashcards

CH 3 Genetic Basis of Disease Flashcards

1
Q

Gene, what is it and where is it located

A

fundamental unit of DNA, basic unit of heredity, located on the chromosome

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

Many disease processes are the result of

A

abnormal cell activity from alterations in the cells genetic control

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

genome refers to

A

the collection of all of an organisms genes

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

pharmacogenomics

A

study of gene function in health, disease, and the response to medications

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

Genetics

A

the study of inherited traits and patterns of inheritance

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

Genomics

A

the study of the interactions of all the nucleotide sequences (not just the genes) within an organism

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

A Nucleotide is

A

a combination of a pentose sugar, phosphate, and a purine or a pyrimidine nitrogen base

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

Nitrogenous bases and their pairs

A

Adenine to Thymine
Guanine to Cytosine
Adenine to Uracil

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

Exons

A

protein coding sequences

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

Introns

A

Non-coding sequences

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

Codon

A

an arrangement of three bases coding for one amino acid.

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

Mutation occurs when

A

a gene is damaged or changed in such a way that it alters the genetic code carried in the gene

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

The Human Genome is said to have between ____ and ____ genes

A

20 and 25 thousand

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Polymorphisms

A

Common changes in a DNA sequence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Gametes

A

Germ cell, include sperm and ovum

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

Gene locus

A

location on the chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Centromere

A

the narrowed point of the chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

P arm is ____

and Q arm is ____

A

P is short, Q is long

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Karyotype

A

organized arrangement of all the chromosomes in a cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Autosomes

A

genes related to body traits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

RNA reads which way, prime ends?

A

3 prime to 5 prime

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

allele

A

the copy of the gene inherited from a parent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

heterozygous

A

the gene from the mother is different than the gene from the father

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

homozygous

A

same gene variation from both mother and father

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

genotype

A

the set of genes inherited from mother and father, responsible for certain traits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

phenotype

A

how a gene is manifested in an individual, expressed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Dominant

A

A gene that will be expressed even if the person only has one copy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Carrier

A

a person who is heterozygous for a recessive trait and does not manifest it but can pass it on.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

autosomal

A

NON sex-linked traits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

X allele is dominant?

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Penetrance

A

refers to what percentage of people with the genotype will show the phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Single Nucleotide Polymorphisms (SNPs)

A

one nucleotide substituted for another that may cause disease development and/or dysfunctional proteins. Ex: Sickle cell anemia is from an SNP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Inherited Mitochondrial disorders include: They are passed on by:

A
  • neurogenerative disorders
  • hypertrophic cardiomyopathy
  • ophthalmoplegia
  • maternally inherited deafness
  • balance and sensation disorders (ataxia-neuropathy syndromes)

These disorders are passed on by the mother.

34
Q

oncogene

A

a gene increasing the risk of cancer

35
Q

proto-oncogenes

A

cells that control cell proliferation, mutation of these cells leads to activated oncogenes causing uncontrolled cellular proliferation or insuppressible cancerous growth

36
Q

oncoproteins

A

defective proteins

37
Q

tumor suppressor genes

A

genes that inhibit uncontrolled cellular mitosis and persistent proliferation. Defection of this gene means no suppression of cancerous transformation and growth of cells

38
Q

Knudson’s __ ___ hypothesis

A

two hit

39
Q

Knudson’s two hit hypothesis says

A

A person has an at risk gene on an allele and the gene on the other allele is mutated at some point during their lifetime and they develop a disease because now both alleles are compromised.

40
Q

aneuploidy

A

alteration in anaphase of mitotic division and results in a different number of chromosomes

41
Q

translocation

A

when a chromosome piece breaks off and joins a different chromosome

42
Q

Most common chromosomal alteration

A

Down Syndrome

43
Q

Most commonly tested proteins for maternal serum to check for disorders

A
  • alpha-fetoprotein (AFP)
  • human chorionic gonadotropin (hCG)
  • unconjugated estriol (uE3)
  • dimeric inhibin A (DIA)
44
Q

Chorionic Villus Sampling

A

diagnostic procedure to find chromosome abnormalities, some inherited disorders, and certain birth defects in a fetus, commonly offered to women over 35 (advanced maternal age)

45
Q

Amniocentesis can detect __ of fetal chromosome abnormalities

A

99%

46
Q

Marfan Syndrome,
mutation on what gene and chromosome,
contains the code for what

A

Fibrillin-1 gene on chromosome 15, contains the code for the glycoprotein fibrillin

47
Q

Fibrillin is what, deficient in what syndrome

A

connective tissue found in heart valves, airways, and other tissues, deficient in Marfan’s Syndrome

48
Q

Marfan’s signs and symptoms

A
  • Sudden dyspnea with pneumothorax
  • Sudden chest pain with aortic dissection
  • Lower back pain in tailbone with spinal dura involvement
49
Q

Marfan’s Syndrome Physical Findings

A
  • Tall, lanky appearance
  • Elongated arms and fingers
  • Heart murmur from aortic regurgitation or mitral prolapse
  • aortic dissection
  • dysrhythmia
  • Dyspnea, severe palpitations, and substernal pain in severe pectus excavatum
  • Spontaneous pneumothorax
  • pectus excavatum
  • ligament hypermobility
  • kyphoscoliosis
  • Burning sensation and numbness or weakness in the legs because of dura mater defects
  • Joint pain (adult patients)
  • Visual problems
50
Q

Marfan Syndrome - Dominant or Recessive

A

Autosomal Dominant

51
Q

Marfan’s Syndrome Treatment

A

for symptoms and multiple conditions from defect

52
Q

Marfan’s Syndrome Diagnostic Testing

A
  • chest x-ray
  • aortic angiogram
  • echocardiogram
  • CT
  • MRI
  • Genetic Testing
53
Q

Cystic Fibrosis (CF) most common ethnicity

A

most common lethal inherited disease in persons of European ancestry

54
Q

Cystic Fibrosis defective where, what chromosome for what

A

Defects in the CFTR gene, Gene 7, which encodes for a protein that functions as a chloride channel and regulates the flow of other ions across the surface of epithelial cells.

55
Q

Cystic Fibrosis chiefly affected organs

A

respiratory system and pancreas. Excessive mucus and thickened secretions form plugs.

56
Q

Cystic Fibrosis Signs and Symptoms

A
  • Chronic cough
  • upper respiratory infections
  • GI disturbances caused by pancreatitis
  • cirrhosis of the liver
  • gallstones
57
Q

Cystic Fibrosis Physical Findings

A
  • Pulmonary wheezes
  • rhonchi
  • excess mucus in sputum
  • sinusitis
  • nasal polyps
  • abdominal pain caused by pancreatitis and cholecystitis
  • cirrhosis of the liver
  • rectal prolapse
58
Q

Cystic Fibrosis Diagnosis

A
  • Genetic testing
  • IRT, pancreatic protein, elevated
  • QPIT, sweat test for chloride content
  • Chest x-ray
  • abdominal x-ray
  • chest CT
  • abdominal ultrasound
59
Q

Cystic Fibrosis Treatment

A
  • pancreatic enzyme supplements
  • bronchodilators
  • mucolytics
  • nebulizer treatments
  • antibiotics
  • anti-inflammatory medications
60
Q

Tay Sachs - Dominant or recessive

A

recessive

61
Q

Tay Sachs Disease, defective on what chromosome, what enzyme is affected, and allows…

A

Mutation on chromosome 15. The lysosomal enzyme, hexosaminidase A, is severely deficient, which allows ganglioside to accumulate in tissues, particularly the brain and spinal cord.

62
Q

Tay Sachs Disease Signs and Symptoms, development and aging

A
  • lethargy and cognitive impairment
  • infant appears normal until 6 months
  • death usually occurs by age 3
63
Q

Tay Sachs Disease Physical Findings

A
  • as infant matures, motor coordination, lethargy, muscle flaccidity, and increasing cognitive impairment become apparent
  • poor suck reflex in infant
64
Q

Tay Sachs Diagnosis

A
  • Genetic Testing

- cherry red spot” in eye

65
Q

Tay Sachs Treatment

A

Treatment of symptoms and multiple conditions from disease

66
Q

G6PD Deficiency,

A

All mutations that cause G6PD deficiency are found at the gene locus Xq28. A metabolic enzyme involved in RBC metabolism. NADPH, protecting RBCs against
Some of the RBCs undergo hemolysis when the body is under stress.

67
Q

G6PD Deficiency - Dominant or Recessive

A

X linked recessive

68
Q

G6PD Deficiency signs and symptoms

A

hemolysis that presents as jaundice

69
Q

G6PD Deficiency Diagnosis

A
  • Blood levels of G6PD
  • bilirubin level,
  • CBC
  • measuring hemoglobin in the urine
  • haptoglobin level
  • LDH test
  • methemoglobin reduction test
  • reticulocyte count.
70
Q

G6PD Treatment

A
  • Periods of hemolysis and jaundice do not require treatment and will resolve on their own
  • Avoid drugs and foods that cause hemolysis.
  • Blood transfusions may be necessary for severe hemolysis. Possibly removal of the spleen.
  • Folic acid should be given because the body is in a state of high RBC synthesis.
71
Q

Down Syndrome what gene link

A

Trisomy 21, aneuploidy

72
Q

Down Syndrome Signs and Symptoms

A
  • Delay in developmental milestones.
  • Congenital heart defects are common: dyspnea, cyanosis, and syncope (fainting) can result.
  • Esophageal and intestinal complications are also common, (40%) which can cause problems with swallowing and malabsorption.
  • 10-20 fold increase in risk of developing leukemia
  • weak immune system
  • susceptible to alzheimer’s
73
Q

Down Syndrome Physical Characteristics

A
  • Infant has facial features that are distinctive for Down syndrome.
  • Flat facial profile.
  • Oblique palpebral fissures and epicanthic folds around the eyes.
  • Heart murmur.
  • Cyanosis.
  • Dyspnea.
  • Approximately 80% of children have IQ of 25 to 50. The remaining 20% have normal or near-normal intelligence.
74
Q

Down Syndrome Diagnosis

A
  • Genetic Testing
  • -amniocentesis
  • -PUBS
  • -Chorionic Villus Sampling (CVS)
  • extraction of fetal cells from maternal circulation (blood test)
  • Echocardiogram
  • chest x-ray
  • abdominal x-ray
75
Q

Down Syndrome Treatment

A

treatment of symptoms and treatment of multiple conditions resulting from defect

76
Q

Huntington’s Disease, defect in what chromosome, for what

A

Genetic defect at 4p16.3, called the huntingtin gene.
The gene defect causes a part of DNA called a CAG repeat sequence to repeat many more times than it should and form the huntingtin protein. associated with degeneration of specific neurons in the basal ganglia and cortex.

77
Q

Huntington’s, Dominant or Recessive

A

Autosomal-dominant inherited disorder

78
Q

Huntington’s Disease Signs and Symptoms

A
  • Lack of control of movements, called chorea
  • Cognitive decline, depression and psychosis possible
  • Dementia late in the course of the disease
79
Q

Huntington’s Disease Physical Characteristics

A
  • Muscle spasticity
  • Difficulty with speech and swallowing
  • Subtle, tic-like movements may progress to flailing-type movements
  • Lack of movement, blank face, tremor, rigidity
  • Eventual akinesia (lack of any movement) occurs
80
Q

Huntington’s Disease Diagnosis

A

Genetic testing, inheritance pattern, and clinical picture to make diagnosis. No imaging shows deterioration well.

81
Q

Huntington’s Disease Treatment

A
  • May benefit from Parkinson-type treatment of levodopa and dopamine agonists
  • antidepressants may be necessary
  • antipsychotics may be necessary
  • anticonvulsants may be necessary

NRS 232 Pathophysiological Processes - MHCC (11 decks)

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