Genetics

Question 1

How do you manage Wilson’s?

Answer 1

Penicillamine ro chelate the copper

Question 2

Gene and Chromosome in Wilson’s disease

Answer 2

ATP7B, chromosome 13

Question 3

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

Answer 3

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.

Question 4

Central hypoginadismo, amosmia y delayed puberty Dx?

Answer 4

Kalilman Syndrome.

Question 5

Gene mutated in Kali an syndrome

Answer 5

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

Question 6

Duchene has dystrophin gene protein (absence or reduced)?

Answer 6

Absent

Question 7

Genotype in Klinefelter syndrome

Answer 7

47 XXy is most common

Question 8

Characteristic in kilnefelter

Answer 8

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.

Question 9

Gene in galactosemia and sx

Answer 9

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

Question 10

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

Answer 10

E. coli

Question 11

Cardiovascular finding in turner syndrome

Answer 11

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

Question 12

Sx of pre ductal aortic coartctation in children with turners syndrome

Answer 12

Diminished femoral pulses compared to brachial pulses.

Question 13

How do you Dx Hereditary osherocytosis?

Answer 13

Osmotic fragility test

Question 14

How do you Dx paroxysmal nocturnal hemogkobinuria?

Answer 14

Hams test

Question 15

How do you Dx autoimmune hemolytic anemia?

Answer 15

Coomb’s test

Question 16

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.

Answer 16

Allele e4, ApoE4, amyloid precursor protein

Question 17

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

Answer 17

Variable expression

Question 18

Mixture of two types of materials leading to clinical variability

Answer 18

Heteroplasmy

Question 19

Phenotype dependent on whether mutation comes from mom or dad

Answer 19

Imprinting

Question 20

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

Answer 20

Loss of heterozygocity

Question 21

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

Answer 21

Incomplete penetrance

Question 22

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

Answer 22

Edwards Syndrome, trisomy 18

Question 23

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

Answer 23

Prader willi

Question 24

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.

Answer 24

ALL, AML

Question 25

A single genetic defect affects more than one organ system

Answer 25

Pleiotrophy

Question 26

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

Answer 26

x chromosome, CGG | Hypermetylation of cytosine bases, leading to gene inactivation subsequently

Question 27

In CF, how do you loosen the mucus?

Answer 27

N acethylcysteine

Question 28

What is the MEchanism of N acetylcysteine?

Answer 28

Cleaves the disulfide bonds within mucous glycoproteins

Question 29

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

Answer 29

Lever hereditary optic neuropathy

Question 30

Mode of inheritance of lever hereditary opctic neuropathy

Answer 30

Mitochondrial disease

Question 31

Cause of testicular failure in klinefelter disease

Answer 31

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.

Question 32

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

Answer 32

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

Question 33

Gene mutated in Alkaptonuria

Answer 33

HGD Homogentisic acid oxidase enzyme,

Question 34

What is te problem in alkaptonuria?

Answer 34

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

Question 35

Also known as hyperimmunoglobulin E syndrome

Answer 35

Job syndrome

Question 36

Abnormal neutrophil chemotaxis, and mutation in STAT3 gene

Answer 36

Job syndrome

Question 37

Job syndrome is a mutation in what gene?

Answer 37

STAT3 gene

Question 38

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

Answer 38

Job syndrome

Question 39

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

Answer 39

Li fraumeni Syndrome

Question 40

What is the normal function of gene p53?

Answer 40

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

Question 41

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

Answer 41

Li fraumeni Syndrome, p53 gene mutation

Question 42

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

Answer 42

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

Question 43

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

Answer 43

Acute intermittent porphyria

Question 44

Enzyme deficient in acute intermittent porphyria?

Answer 44

Porphobilonogen deaminase

Question 45

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

Answer 45

Acute intermittent porphyria

Question 46

Deficiency in enzyme in ferrochelatase

Answer 46

Protoporphyria

Question 47

Deficiency in uroporphyrinogen III decarboxylase

Answer 47

Porphyria cutánea tarda

Question 48

Mutation in the VHL gene disrupting the ubiquitin ligase complex

Answer 48

Von hippel lindau

Question 49

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

Answer 49

HIF-1 alpha

Question 50

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

Answer 50

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

Question 51

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

Answer 51

Hypoxia inducing factor 1 alpha

Question 52

Two malignancies related to VHL mutation

Answer 52

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

Question 53

vWF is a cofactors of factor ——.

Answer 53

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

Question 54

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

Answer 54

Types 1 and 2, type 3

Question 55

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

Answer 55

VWF deficiency, gene vWF, chromosome 12

Question 56

VWF is required for ———-

Answer 56

Platelet adhesion.

Question 57

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

Answer 57

Exposed collagen, gp1b, platelets, factor 8.

Question 58

Deficiency in gp1b

Answer 58

Bernard soulié

Question 59

Deficiency in gp2b3a

Answer 59

Glanzman thrombastemia

Question 60

The drug ——- prevents platelet adhesion by inhibiting gp1b

Answer 60

Clopidogrel

Question 61

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

Answer 61

Abxicimab, agrostat, integrilin

Question 62

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

Answer 62

VW disease

Question 63

Type one Von willenbrand disease is due to what?

Answer 63

Quantitative problem

Question 64

Type 2a of vWDisease is due to what?

Answer 64

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

Question 65

Type 2b of vWDisease is due to what?

Answer 65

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

Question 66

Type 3 vWDisease is due to what?

Answer 66

Complete absence of vWF, most severe form

Question 67

Newborn, cleft palate, rounded soles on bottom of feet

Answer 67

Patau, chr. 13

Question 68

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

Answer 68

Tuberous sclerosis

Question 69

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

Answer 69

ADPKD

Question 70

Gene affected in duchenne muscular dystrophy

Answer 70

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

Question 71

Inheritance of duchenne muscular dystrophy

Answer 71

X linked recessive

Question 72

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

Answer 72

Achondroplasia, inherited autosomal dominant

Question 73

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

Answer 73

Glycine, arginine, FGFR3

Question 74

Glycine is replaced by arginine, lverxpressionnof FGFR3

Answer 74

Achondroplasia

Question 75

How do you Dx vWDisease?

Answer 75

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

Question 76

How do you manage vWDisease?

Answer 76

Give desmopressing to release vWF from weibel palace bodies in endothelium

Question 77

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

Answer 77

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.

Question 78

How is desmopressing administered in vWDisease?

Answer 78

Nasally

Question 79

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

Answer 79

Worsens with eating and holding an object. | Seen in upper extremities.

Question 80

——-improved essential tremor

Answer 80

Alcohol does improve essential tremor.

Question 81

How do you manage essential tremor?

Answer 81

Propranolol. — a non selective beta blocker

Question 82

Physiologically, What causes essential tremor? Triggered by what?

Answer 82

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