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Flashcards in Exam II Review Deck (79):
1

Define mutation

permanent change in the DNA of an organism

2

Define genomic mutation

Karyotypic change resulting in aneuploidy

3

Define chromosomal mutation

change in size, shape and structure of chromosomes

4

Define gene mutation

seen at the gene level only

5

Define point mutation

within coding sequence

6

Define deletion mutation

Deletion of NT's

7

Define insertion mutation

Addition of NT's

8

Define missense mutation

Point mutation resulting in a different AA
Sickle Cell

9

Define nonsense mutation
Example

early stop codon
Beta thalassemia

10

Define tri-nucleotide repeat

Repeat of 3 amino acid sequence

11

Define autosomal dominant
3 general characteristics

Only need one allele to have phenotype
Reduced penetrance
Variable expressivity
Males and females
Spontaneous mutations can occur
Onset is delayed
Proteins and metabolic control points

12

Define autosomal recessive
2 general characteristics

Need two alleles to have disorder
Early onset
Enzymes
Usually complete penetrance

13

Define x-linked recessive

Need to have one mutant X allele in males and two in females.

14

Define x-linked dominant
One example?

Only need one X allele to have disorder
Vitamin D resistant rickets

15

Define codominant
One example?

two different gene alleles are fully expressed together

16

Marfan's syndrome
Type of inheritance
Incidence
Chromosome involved
Protein involved
Three charcteristics of syndrome (MARFANS)

Autosomal dominant

Ch 15

Fibrillin

Mitral valve prolapse
Aortic aneurysm/Aortic valve incompetence
Retinal detachment
Fibrillin/Ch15
Arachnodactyly
Subluxulated lens

17

Ehlers danlos
Type of inheritance:
Protein involved
Five characteristics of syndrome
"Fellers Damn Loose"

All 3
Collagen

Stretchable skin
Hypermobile joints
Really easily injured skin
Increased lines on palma


18

Familial hypercholesterolemia
Type of inheritance
Incidence
Proteins/components involved
Two characteristics of syndrome

Autosomal Dominant
1 in 500 (MOST COMMON)
Defective LDL receptor

High blood cholesterol levels
Tendinous xanthomas

19

Tay Sachs
Type of inheritance
Incidence or population at risk
Protein/components involved
Two characteristics of syndrome

Autosomal Recessive
Ashkenazi Jews
Hexosaminidase A --> Gangliosides

Cherry Red Spot on macula
Blindness
NO hepatosplenomegaly

20

Gaucher
Type of inheritance
Incidence or population at risk
Protein/components involved
What types exist?

Autosomal Recessive
Eastern European Jews
Glucocerebrosidase
Type I(Phagocytes), Type II (Infantile), Type III (Intermediate)

21

Niemann-Pick
Type of inheritance
Protein/components involved
What types exist?

Autosomal recessive
Eastern European Jews (Type A&B)
NPC-1 gene --> Sphingomyelin
A (infantile), B, C (most common)

22

Mucopolysaccharidoses?
Most common type of inheritance
What form is X-linked recessive
Two general characteristics

All AR
Except Hunter Syndrome
Coarse facial features
Clouding of corneas
joint stiffness
mental retardation

23

Glycogenoses (Viagara Pills Cause A Major Hard On)
What is hepatic type?
Muscle type?
Lysosomal type?

Hepatic: Type I -- Von Gierke's
Muscle: Type V -- McArdle's
Lysosomal: Type II -- Pompe's

24

NF-1
Incidence
Chromosome involved
Protein involved and normal action
Three characteristics

1/3000
NF-1 gene on Chromosome 17q11
Neurofibromin - Tumor supressor

Neurofibromas
Cafe au lait macules
Lisch nodules

25

NF-2
Incidence
Chromosome involved
Protein involved and normal action
Three characteristics

10% of NF's
Ch 22
Merlin: Tumor suppressant
Neurofibromas, Bilateral acoustic neuromas
NO Lisch Nodules

26

Multifactorial disorders
Three examples?

Hypercholesterolemia
Hypertension
Height
Eye color

27

Trisomy 21
Incidence
Age relationship
Types?
Four characteristics


Mom's increasing age increases risk

Nondisjunction 47 X? 21,
Robertsonian translocation (46, X?, der 14,21)
Mosaics (46X?, 47X? +21)

Endocardial cushion
Atresia of bowel
Risk for leukemias
Mental retardation, Alzheimer's

28

Trisomy 18
Incidence
Four characteristics

1 in 8000

Rocker-bottom feet
Renal problems
CV problems
Facial abnormalities

29

Trisomy 13
Incidence
Four characteristics

1 in 15000

Polydactylyl
Rocker bottom feet
Facial problems
Renal/CV problems

30

Klinefelter syndrome
Types?
Four characteristics

47XXY, 48XXXY, 49 XXXXY
Additional X's increase mental retardation

Gynecomastia
Hair distribution

31

Turner syndrome
Incidence
Four characteristics

45, XO

Webbing of neck
Cystic fibroma (lymphangioma)
Short
Broad chest (widely spaced nipples)
Pigmentation
Primary amenorrhea (1/3 of all)

32

Triple repeat disorders
Example of X-linked R and AD forms
Define anticipation
Define sherman's paradox
Give three characteristics of Fragile X syndrome

Fragile X: X-linked
Huntington: AD (earlier onset)
Friedrich's ataxia: AD
Myotonic dystrophy: AD

Anticipation: age of onset increases through generation

Sherman's paradox: Your place in pedigree determines the risk of getting it

End of long arm of X is messed up
Hypergonadism

33

Mitochondrial disorders
– Give one example

Leber Hereditary Optic Neuropathy

34

Imprinting
– Explain this process
– Give two examples

Selective inactivation of either the
maternal or paternal allele

Paternal imprinting: Prader Willi
Maternal imprinting: AngelMan's

35

Cystic fibrosis
– Incidence and race
– Chromosome involved
– Protein involved
– Most common and lethal mutation
– List three characteristics (CF PANCREAS)

Whites: 1/2000, Blacks 1/15000 Rare in asians
Long arm Chr 7
CFTR: CF transmembrane conductance regulator
F-508
Chronic cough
Failure to Thrive
Pancreatic insufficiency
Alkalosis
Neonatal meconium ileus
Clubbing of fingers
Rectal prolapse
Electrolyte elevation
Absence of vas deferens
Staph or pseudomonas

36

What is malformation?
Intrinsic or extrinsic problem?
What is etiology?
Example?

a

37

What is a disruption?
Extrinsic or intrinsic?
What is etiology?
Example?

a

38

Deformations
Extrinsic or intrinsic?
What % of newborns?
What causes it?
Most common cause?
Increased risk factors? (7)

a

39

What is a sequence?
What is the initiating event?
Example?

a

40

What is Potter sequence? 4

a

41

What are malformation sequences?
What are they generally caused by?
Two examples

a

42

What are transcervical/ascending infections?
What can they affect in terms of baby? (2)
Occur with what risk factors? (2)
What can it lead to? (3)
4 causes?

a

43

Transparental infections are what?
Usual cause?
What are the five exmaples (TORCH)
Symptoms? (5)

a

44

What is prematurity?
Risk factors? (4)
Complications? (3)

a

45

Intrauterine growth retardation results in what?

a

46

Fetal causes of interuterine growth retardation?

a

47

Placental causes of intrauterine growth retardation?

a

48

Maternal factors causing intrauterine growth retardation

a

49

Risk factors for respiratory distress syndrome of newborn? (4)

a

50

Basic defec tin respiratory distress syndrome?
What cell normally makes this?
What will increase production? (2)

a

51

Survivors of respiratory distress syndrome may have what? (2)

a

52

What is necrotizing enterocolitis?
Etiology? (2)
What aggravates? (2)
What parts of GI are affected? (3)
Effect on GI organs? (4)
Exam reveals what? (4)

a

53

Infants with necrotizing enterocolitis develop what symptoms? (4
Treatment?
Healing can lead to what?

a

54

SIDS is defined how?
How many cases a year?
90% are how old?
What can reduce risk?

a

55

What is hydrops fetalis?
What causes it historically?

a

56

What is most frequent cause of hydrops fetalis now?
Causes? (5)

a

57

Hydrops fetalis care includes doing what? (4)

a

58

3 indoor air pollution?

wood smoke: Nitrogen and carbon oxides
radon: Decay of urancium --> Broncho carcinomas
bioaerosols: bacteria, viruses, fungi, dander

59

Organic compounds include? (4)

a

60

Chloroform and CCL4 lead to what?

CNS symptoms --> Coma

61

Polycyclic hydrocarbons do what?

Carcinogenic to lung and bladder

62

Vinyl chloride causes what cancer

Hepatic angiosarcoma

63

1,3-butadiene/rubber causes what?

leukemia

64

3 bad metals
Cancer for each

arsenic: lung and skin carcinoma + hepatic angiosarcoma
chromium: Lung carcinoma
nickel: Lung carcinoma

65

What are pneumoconioses
3 size ranges?

Non-neoplastic lung diseases induced by
inhaled organic and inorganic particulate
matter and fumes.

<1 um = reach alveoli and act like gases, without deposition or damage

66

Coal workers lung/black lung has what in simple form?

Asymptomatic anthracosis

67

Coal workers lung/black lung has what in complicated form?

progressive massive fibrosis

68

What is caplan syndrome? (2)
Symptoms? 2

Rheumatoid arthritis and pneumoconiosis

1. Coalescing nodules with central necrosis
2. palisading macrophages, fibroblasts and plasma cells

69

What is silicosis secondary to?
Which form is better, which is worse?
How many cases in US a year
Acute form results in what? (3)

inhaled silica

Crystalline forms more reactive than amorphous
forms

1500/year

respiratory
symptoms, interstitial inflammation and proteinaceous
fluid collections in alveolar sacs

70

Chronic form of silicosis results in what forming?

Nodular form with fibrosis nodules in upper zones of
the lungs and in subpleural locations

71

Complicated form results in what?

Progressive enlargement of nodules and destructions
of lung parenchyma (PMF)

72

Silicosis has what two diseases increase due to it?

TB
Cancer

73

Two major types of asbestos
Which is more common
Which causes mesotheliomas?

a

74

Serpentine asbestos has asbestos in what form?
Why is it more common?

a

75

Amphibole has what type of asbestos?
Why do they create damage?

a

76

5 forms of asbestos

a

77

What are asbestos bodies?

a

78

What is berylliosis acute form?
Chronic form?
Who is at risk?

a

79

Tobacco smoke has how many deaths?
What proportion is lung cancer

a