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clin med > genetic disease > Flashcards

genetic disease Flashcards

1
Q

what are the three types of gene mutation

A

genome mutation
chromosomal mutation
gene variant

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2
Q

what is gene mutation?

A

loss or gain of an entire chromosome

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3
Q

what is chromosomal mutation

A

alteration of a segment of chromosomes

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4
Q

what is gene variant

A

partial or complete deletion of a gene

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5
Q

state the order of specificity of genes

A

genome -> chromosomes long chain of DNA -> genes (segments of DNA)

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6
Q

What is the typical human genome

A

44 chromosomes with 23 pairs of chromosomes. 22 pairs will be autosomal and 1 pair of sex chromosomes.

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7
Q

what is meant by hereditary or familiar genes

A

condition is derived form parents due to a genetic mutation

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8
Q

what is meant by congenital genes

A

condition is appears at birth. maybe hereditary or can be due to exposure at birth

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9
Q

what are the 5 types of inheritance patterns

A
  1. autosomal dominant
  2. autosomal recessive
  3. x-linked recessive
  4. chromosomal
  5. mixed inheritance
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10
Q

break down the meaning of autosomal dominant

A

autosomal- the gene in question is located on one of the 44 chromosomes. Not a sex chromosome
dominant- a single copy of the mutated gene is enough to express the gene phenotypically.

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11
Q

what are the three examples for autosomal dominant

A
  1. familiar hypercholesterolemia
  2. marfan syndrome
  3. osteogenesis imperfecta
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12
Q

what is the mutation of familiar hypercholesterolemia

A

low density lipoprotein (LDL)
receptor mutation will result in impaired uptake of cholesterol into the cells.

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13
Q

what are the clinical manifestations of familiar hypercholesterolemia

A
  • elevated blood cholesterol levels
    -atherosclerosis resulting in cardiovascular disease
  • death before the age of 30 due to uncontrolled CVD.
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14
Q

What is the mutation in Marfans syndrome

A

fibrillar-1 gene on the 15 chromosome

fibrillar provides support for production of elastic fibers

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15
Q

what are the clinical manifestations for marfans syndrome

A
  1. skeletal: long arms, legs, and fingers
  2. Eye: Bilateral dislocation of the lens
  3. cardiovascular: aortic root dilation, leading to aortic insufficiency, myxomatous mitral valve, ascending thoracic aortic aneurysm, aortic dissection
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16
Q

what is the percent breakdown for the presentation of osteogenesis imperfecta?

A

autosomal dominat 80% of the time
20% is autosomal recessive

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17
Q

what does heterogeneous mean

A

refers to collagen respresentation in osteogenesis imperfecta is very different.

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18
Q

what is meant by pleiotropic

A

one gene will influence two phenotypic traits

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19
Q

what is the mutation in osteogenesis imperfecta?

A

90% of cases are caused by a mutation of the COL1A1 or COL1A2 genes

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20
Q

what two genes encode for type 1 collagen?

A

COL1A1 and COL1A2

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21
Q

How will an X-ray detect osteogenesis imperfecta?

A

mild osteopenia

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22
Q

describe the pathophysiology of osteogenesis imperfecta?

A

disease in type 1 collagen
- a major extracellular protein in the body dermis

can effect: connective tissues int he organs, GI, and Vascular system and bones

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23
Q

what are the S/S of type 1 osteogenesis imperfecta?

A

fractures- that will decrease after puberty
blue sclera
in adults a short stature

most mild form of OI

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24
Q

What are genetic determinats noticed in type 1 osteogenesis imperfecta?

A

25% are from new cases
75% are from autosomal dominant

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25
Q

what are the S/S of type 2 osteogenesis imperfecta?

A

Most severe form

will be present before birth
1. multiple fractures
2. bone deformities
3. significant fragillity of non bony connective tissue
4. blue sclara
5.short limbs
6. small chest
7. soft skull

typically results in death in infancy

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26
Q

what is the hallmark charateristic of type 2 osteogenesis imperfecta?

A

hips will be externally rotated and abducted
“froggie legs”

27
Q

what might an xray find in a patient with type 2 osteogenesis imperfecta?

A

isolated islands of mineralization in the skull and beaded appearance in the ribs

28
Q

what is the genetic ties to type 2 osteogenesis imperfecta?

A

NONE all new dominant mutation

29
Q

what are the S/S of type 3 osteogenesis imperfecta?

A

patients show at birth:
1. progressive bony deformities
2. multiple fractures
3. blue sclera

may loose ability to walk by early adulthood

30
Q

nearly all case of type 3 osteogenesis imperfecta are due to?

A

dominant mutation

31
Q

What are the S/S of type 4 osteogenesis imperfecta?

A

postnatal fractures that range from type 1 to type 3
children will fracture later in learning to walk

moderate growth retardation
bony deformities
blue sclera
very short long bones

32
Q

what is the distinguishing factor between type 1 and type 4 osteogenesis imperfecta?

A

type four involves moderate to severe growth retardation

33
Q

what is the order for osteogenesis imperfecta?

A

type 1< type 4< type 3< type 2

34
Q

What is meant by autosomal recessive?

A

autosomal- not a sex chromosome
recessive- a single copy of the mutated gene is carrier but nor expressed; two copies of the mutated gene are required for phenotypic expression

35
Q

what is the given example for autosomal recessive?

A

cystic fibrosis

36
Q

What is the mutation involved with cystic fibrosis?

A

Cystic Fibrosis transmembrane conductance regulator gene on chromosome 7

37
Q

what is the epidemiology of cystic fibrosis

A

1 in 3500 live births
white predominantly

38
Q

what are the clinical manifestations of cystic fibrosis?

A
  1. fibrosis of pancreas
  2. recurrent pulmonary infections- pneumonia
  3. chronic bronchittis, bronchiectasis
  4. meconium ileus
  5. billiary cirrhosis
  6. infertility in males
    think and sticky mucus
39
Q

what is infertility in males with CF second to

A

missing vas deferens

40
Q

what is thick and stickey mucus in CF secondary to

A

absence of chloride on cell surface

41
Q

Biliary cirrhosis in CF leads to

A

impaired absorption of the fat soluble vitamins A,D,E, and K

42
Q

what is meant by X-linked recessive

A

genetic conditions associated with mutations in genes on an X chromosome

43
Q

what is the example of X-linked recessive?

A

Duchenne Muscular Dystrophy

44
Q

what is the mutation noticed in Duchenne Muscular Dystrophy

A

Dsytrophin gene at Xp21

45
Q

what is the epidemiology in Duchenne Muscular Dystrophy

A

1 in 3000 infants
profound in male predominance
female carriers of the disease are asymptomatic

46
Q

what is the clinical course of Duchenne Muscular Dystrophy

A

disease will manifest by 5 years
assoated weakness will create immobility in teen years
usual death by 20 or 30s.

cardiomyopathy and non progressive cognitive abnormalities are also fairly common

47
Q

what are the signs and symptoms of Duchenne Muscular Dystrophy

A
  • weakness in pelvis first- delayed ability to walk
  • Psuedohypertrophy- enlargement of calf muscles due to fat
  • Gower maneuver- use of hands to rise to standing up
  • muscle atrophy and weakness - wheelchair dependent by the second decade of life
  • Death due to respiratory insuffecency and cardiac failure
48
Q

what is meant by chromosomal inheritance mutations

A

mutation of a large segment or entire chromosome

49
Q

what are the examples for a chromosomal inheritance pattern

A

downsyndrome and trisomy 18

50
Q

what is the mutation for down sydrome

A

extra copy of the 21st chromosome

51
Q

what are clinical manifestations of down sydrome

A
  1. intellectual disability
  2. characteristic facial features
  3. hypotonia
  4. protruding tongue
  5. congenital heart disease
52
Q

what is the epidemiology of down syndrome

A

1 in 700 newborns

53
Q

what is the mutation in Edwards syndrome

A

trisomy 18

54
Q

what are the clinical manifestations of Edwards / trisomy 18?

A
  1. heart / organ defects
  2. small and abnormally shaped head, small jaw and mouth
  3. clenched fists with overlapping fingers
55
Q

what might an individual with Edwards present at birth weight wise?

A

slow growth and low in birth weight

56
Q

what is life expectancy for trisomy 18

A

most will die within their first month due to medical problems

only 5 to 10% of children will live past 5 years

57
Q

What is the epidemiology of trisomy 18

A

every 1 in 5,000 live births

58
Q

What is meant by a genetic condition with mixed inheritance patterns

A

depending on the gene involved the inheritance pattern can be any

59
Q

whats the disease example for a genetic condition with mixed inheritance patterns

A

Ehlers-Danlos sydrome

60
Q

what is up with the mutation in Ehlers-Danlos sydrome

A

it is contributed to changes in at least 20 genes

61
Q

what is Ehlers-Danlos sydrome

A

Hereditary collegen disorder in which there is articular hypermobility, dermal hyperelasticity, and widespread tissue fragility

62
Q

what is the clinical prevalence of Ehlers-Danlos sydrome

A

1 in 5,000 worldwide

63
Q

what are the clinical manifestations of Ehlers-Danlos sydrome

A
  • hyperextensible skin
  • fragile tissue
  • poor wound healing
  • joint hyper mobility
  • increased propensity for joint subluxation
  • muscle weakness
  • delayed motor development
  • fatigue
  • gait defects
  • chronic pain
64
Q

what are the pt implications of Ehlers-Danlos sydrome

A
  1. joint stability- low resitance and high repatition
  2. assistive device for loading relief
  3. bracing to promote joint stability (decreasing subluxation)
  4. pain management

clin med (19 decks)

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