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MyReview Step > Genetics > Flashcards

Genetics Flashcards

1
Q

How do you manage Wilson’s?

A

Penicillamine ro chelate the copper

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2
Q

Gene and Chromosome in Wilson’s disease

A

ATP7B, chromosome 13

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3
Q

What explains connection of Down’s syndrome and Alzheimer’s?

A

Presence of APP gene on chromosome 21. There’s cleavage of APP from A beta amyloid. Whc8h accumulates in brain tissue and vessel walls. There are three copies of APP gene.

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4
Q

Central hypoginadismo, amosmia y delayed puberty Dx?

A

Kalilman Syndrome.

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5
Q

Gene mutated in Kali an syndrome

A

Gene KAl-1 or the fibroblast grown factor receptor -1 gene.

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6
Q

Duchene has dystrophin gene protein (absence or reduced)?

A

Absent

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7
Q

Genotype in Klinefelter syndrome

A

47 XXy is most common

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8
Q

Characteristic in kilnefelter

A

Mental disability or normal, testicular failure y def in testosterone because of fibrosis and hyalinization of seminiferous tubules., euchonoid body habitus, tall, gynecomastia, because of def of testosterone.

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9
Q

Gene in galactosemia and sx

A

GALT, galactose 1 phosphate uridylyransferase — complete absence of this enzyme leads to jaundice, vomiting, hepatomegaly, failure to thrive, poor feeding, lethargy, diarrhea, sepsis.

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10
Q

In galactosemia, sepsis can occur as a result of what organism?

A

E. coli

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11
Q

Cardiovascular finding in turner syndrome

A

Coarctation of aorta pre ductal, also bicuspid aortic valve, aortic dissection in adults. Almost 30% of children with it have pre ductal.

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12
Q

Sx of pre ductal aortic coartctation in children with turners syndrome

A

Diminished femoral pulses compared to brachial pulses.

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13
Q

How do you Dx Hereditary osherocytosis?

A

Osmotic fragility test

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14
Q

How do you Dx paroxysmal nocturnal hemogkobinuria?

A

Hams test

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15
Q

How do you Dx autoimmune hemolytic anemia?

A

Coomb’s test

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16
Q

Late onset Alzheimer’s is associated with the presence of the —— allele of the ———- protein. This protein is involved in forming senile plaques. Early onset of Alzheimer’s is associated with the presence of te ——- protein on chromosome 21.

A

Allele e4, ApoE4, amyloid precursor protein

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17
Q

Twins with disease expressed in varying degree of severity, I’d due to what?

A

Variable expression

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18
Q

Mixture of two types of materials leading to clinical variability

A

Heteroplasmy

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19
Q

Phenotype dependent on whether mutation comes from mom or dad

A

Imprinting

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20
Q

Mutation of a tumor suppressor gene occurs and complementary alleles must be deleted or mutated before cancer delevelios

A

Loss of heterozygocity

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21
Q

Not all of those with the affected genotype will show it phenotypically

A

Incomplete penetrance

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22
Q

Prominent occiput, micrognathia, low set ears or malformed, small mouth. Rocker bottom feet, overriding fingers

A

Edwards Syndrome, trisomy 18

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23
Q

Imprinting of paternal chromosome 15, hyperphagia, obesity, delayed puberty, GH deficiency

A

Prader willi

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24
Q

Down’s syndrome patients have a high as much as 20 fold increased chance of developing ——- leukemia early on, as well as ——- leukemia in their lifetime.

A

ALL, AML

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25
Q

A single genetic defect affects more than one organ system

A

Pleiotrophy

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26
Q

Chromosome affected in Fragile X?
What is the tricucleaotide repeat?
What does this repeat cause?

A

x chromosome, CGG

Hypermetylation of cytosine bases, leading to gene inactivation subsequently

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27
Q

In CF, how do you loosen the mucus?

A

N acethylcysteine

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28
Q

What is the MEchanism of N acetylcysteine?

A

Cleaves the disulfide bonds within mucous glycoproteins

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29
Q

Severe degeneration of retina ganglion cells and their axons, near complete loss of central vision in one eye,

A

Lever hereditary optic neuropathy

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30
Q

Mode of inheritance of lever hereditary opctic neuropathy

A

Mitochondrial disease

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31
Q

Cause of testicular failure in klinefelter disease

A

Hyalinization and fibrosis of the seminiferous tubules and then lack of testosterone synthesis . Testicles are thus firm and small, and azoospermia happens. Infertility and absence of secondary characteristics.

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32
Q

29 year old with elbow and knee pain, came out of nowhere that pain, and also dark skin on the right ear. Brother and aunt with similar findings

A

Alkaltonuria , joint pain, dark spots on ears, sclera, nose,

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33
Q

Gene mutated in Alkaptonuria

A

HGD Homogentisic acid oxidase enzyme,

34
Q

What is te problem in alkaptonuria?

A

Body cannot break tyrosine and phenylalanine so homogentisis acid oxidase builds up in skin and joints. And tissues.

35
Q

Also known as hyperimmunoglobulin E syndrome

A

Job syndrome

36
Q

Abnormal neutrophil chemotaxis, and mutation in STAT3 gene

A

Job syndrome

37
Q

Job syndrome is a mutation in what gene?

A

STAT3 gene

38
Q

A boy with coarse fáciles, absseses due to Staph aureus, Primary teeth retained, IgE elevation in blood and eczema

A

Job syndrome

39
Q

A person with genetic predisposition to earlycancer development caused by a mutation in p53 gene

A

Li fraumeni Syndrome

40
Q

What is the normal function of gene p53?

A

Prevents damage to cells by arresting mutant DNA in the G1/S stage of te cell cycle until damage is repaired.

41
Q

Rapid development of malignant tumor at a young age (less than 45 years old), family history of cancers.

A

Li fraumeni Syndrome, p53 gene mutation

42
Q

Genetically, What must happen before a person experiences a malignant tumor in li fraumeni Syndrome?

A

They must inherit 1 mutant allele of the p53 gene, then experience a somatic mutation of the second good allele.

43
Q

A person with acute abdominal pain, peripheral neuropathy, and CNS signs. No rash

A

Acute intermittent porphyria

44
Q

Enzyme deficient in acute intermittent porphyria?

A

Porphobilonogen deaminase

45
Q

A person with pain in the abdomen, anxiety, hallucinations, agitation or delirium, patchy neuropathies, dysuria, retention of urine or incontinente, darkening of urine, was taking barbiturates or OCPs or Sulfas

A

Acute intermittent porphyria

46
Q

Deficiency in enzyme in ferrochelatase

A

Protoporphyria

47
Q

Deficiency in uroporphyrinogen III decarboxylase

A

Porphyria cutánea tarda

48
Q

Mutation in the VHL gene disrupting the ubiquitin ligase complex

A

Von hippel lindau

49
Q

A mutation in gene VHL causes an accumulation of ————, a hypoxia producing factor expressed during hypoxia conditions.

A

HIF-1 alpha

50
Q

HIF-1 alpha is normally expressed under hypoxia conditions to produce a variety of proteins such as ——,——-,——-, and ——-.

A

PDFG, VEGF, EPO, TGH-alpha which create more blood vessels so more blood can come in so more oxygen can arrive.

51
Q

In Von hippel lindau, there is an over expression of a factor whose role is to increase blood vessels and oxygen .

A

Hypoxia inducing factor 1 alpha

52
Q

Two malignancies related to VHL mutation

A

Hemangioblastoma and renal cell carcinoma . These are sufficient for a Dx of von hippel lindau

53
Q

vWF is a cofactors of factor ——.

A

Factor 8. Von willenbrand factor is a protector of factor 8

54
Q

VW disease has three types: types —- and —- are autosomal dominant and type —— is autosomal recessive.

A

Types 1 and 2, type 3

55
Q

Von willenbrand disease is caused by a deficiency in ——- in the ——-gene located in chromosome —-.

A

VWF deficiency, gene vWF, chromosome 12

56
Q

VWF is required for ———-

A

Platelet adhesion.

57
Q

VWF aids clotting by binding to: ——, ———-,——— and ——-,

A

Exposed collagen, gp1b, platelets, factor 8.

58
Q

Deficiency in gp1b

A

Bernard soulié

59
Q

Deficiency in gp2b3a

A

Glanzman thrombastemia

60
Q

The drug ——- prevents platelet adhesion by inhibiting gp1b

A

Clopidogrel

61
Q

The drug ———,———- and ———prevent pkatelet aggregation by inhibiting gp2b3a

A

Abxicimab, agrostat, integrilin

62
Q

A presentation of easy bruising, nosebleeds, heavy menstrual periods, blood loss in childbirth

A

VW disease

63
Q

Type one Von willenbrand disease is due to what?

A

Quantitative problem

64
Q

Type 2a of vWDisease is due to what?

A

Qualitative defect in vWF, normal quantity, doesn’t bind collagen very well

65
Q

Type 2b of vWDisease is due to what?

A

Hyperbonding of vWF to gp1b leading to reduction in available vWF as well as decreased platelets

66
Q

Type 3 vWDisease is due to what?

A

Complete absence of vWF, most severe form

67
Q

Newborn, cleft palate, rounded soles on bottom of feet

A

Patau, chr. 13

68
Q

21 year old, reddish rash on face since childhood, lighter patches of skin on her arms

A

Tuberous sclerosis

69
Q

Blood in urine, flank pain, 29 year old, elevated bp on multiple occasions

A

ADPKD

70
Q

Gene affected in duchenne muscular dystrophy

A

Xp21 Febe, dystrophin Febe, dystrophin protein, can’t walk by 12. Dx before 6, growers maneuver, muscle replaced by fat

71
Q

Inheritance of duchenne muscular dystrophy

A

X linked recessive

72
Q

Kyphosis and lordosis are common back problems later in life in this disease

A

Achondroplasia, inherited autosomal dominant

73
Q

Achondroplasia is due to mutation whereby a ——— is replaced by a ——- and there’s an kverexpression of ——+

A

Glycine, arginine, FGFR3

74
Q

Glycine is replaced by arginine, lverxpressionnof FGFR3

A

Achondroplasia

75
Q

How do you Dx vWDisease?

A 
Measure vWF quantity in antigen assay.
Measure its function via:
gp1b binding assay
Collagen binding assay
Ristocetin cofacfor assay
76
Q

How do you manage vWDisease?

A

Give desmopressing to release vWF from weibel palace bodies in endothelium

77
Q

What is Ristocetin and How does risticetin work for vWDisease Dx?

A

It is a formerly used antibiotic. Let do thrombocytopenia and platelet agglutination. You give it and if there is clotting then that means that there is vWF present.

78
Q

How is desmopressing administered in vWDisease?

A

Nasally

79
Q

Essential tremor worsens with ——- and ——-. And it is most commonly seen in what part of the body?

A

Worsens with eating and holding an object.

Seen in upper extremities.

80
Q

——-improved essential tremor

A

Alcohol does improve essential tremor.

81
Q

How do you manage essential tremor?

A

Propranolol. — a non selective beta blocker

82
Q

Physiologically, What causes essential tremor? Triggered by what?

A

Caused by elevated levels of epinephrine . Caffeine can be a trigger.

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