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Genetics 5 Flashcards

1
Q

Chromosome 9. Gene FXN. GAA repeat

A

Friedich ataxia

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2
Q

Nervous tissue destruction in spinal cord. Low levels of frataxin protein in mitochondria . Gene? Chromosome?

A

Chromosome 9
Gene FXN
Repeat GAA

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3
Q

Most commonly see. In children between 5 and 15 years old. Progressive ataxia of 4 limbs. Nystagmus. Dysmetria. Dysarthria (impaired speech production). Dx? Gene? Chromosome.

A

Chromosome 9
Gene FXN
GAA
Friedreichs ataxia

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4
Q

Diminished sense of vibration and lropioception. Absent DTRs. (Arreflexia)
Distal weakness. Nystagmus.
Child of 7 years old.

A

Friedreich ataxia
Gene FXN
GAA
Chrom 9

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5
Q

Most common cause of death in mutation of FXN,chrom 9, GAA repeat

A

Fridreich ataxia
FXN gene
Chromosome 9
Repeat GAA

MCCof death: hypertrophic cardiomyopathy seen in 50% of patients.

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6
Q

Cardiac defects in mutation of FXN gene, chr 9 repeat GAA

A

Hypertrophic cardiomyopathy, murmurs and conduction problems

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7
Q

Endocrine problemas seen in gene FXN mutation, chro 9, repeat GAA,

A

Friedeicj ataxia

Diabetes mellitus

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8
Q

Patient of 15 years old. Kyphoscoliosis, Les cabusm hannertoes, nystagmus, hypertrophic cardiomyopathy sx.

A

Frideichs ataxia
Gene FXN
Chr 9
Repeat GAA

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9
Q

FANCA, FANCC, FANCG, inhibit gene repair

A

Fanconi anemia

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10
Q

Fanconi anemia associated with increased risk of ——- (leukemia)

A

AML

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11
Q

Short stature, dermatological issues, risk of AML, decreased rbcells, decreased WBcells, decreased platelets (bone marrow failure).
Brushing, Petechial, superficial bleeding
Man in his 40s

A

Fanconi anemia

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12
Q

Fanconi anemia. Genes mutated.

A

Majority of cases, three genes: FANCA

FANCC, FANCG

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13
Q

Minimum of 15 genes, though 3 involved in majority of cases, cause this disease.

A

Fanconi anemia
Gene FANCA
FANCC
FANCG

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14
Q

Benign spilling of galactose into urine

A

Galactouria

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15
Q

Galactosuria deficiency?

A

Enzyme galactokinase, GALK1 gene

Chromosome 17

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16
Q

Galactosuria, gene?

Chromosomes?

A

Gene GALK1

Chromosome 17

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17
Q

Worrisome complication in GALK1 deficiency.

A

Cataracts.
Galactouria
Gene GALK1
Chromosome 17

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18
Q

Cataracts in galactouria caused by accumulation of ——- in the lens of the patient during first weeks or months of life

A

Galactitol

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19
Q

——- is the enzyme that turns galactose into galactitol and also turns glucose into sorbitol

A

Aldole reductase

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20
Q

How to treat Galactouria?

A

Eliminate lactose and galactose from diet.

Remove cataracts.

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21
Q

Deficiency of galactose 1 phosphate uridiltransferase (UDP)

A

Causes galactosemia

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22
Q

Accumulation of gallatose 1 P causes

A

Galactosemia

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23
Q

Newborn with feeding problems, failure to

Thrive, liver damage/failure, bleeding, infections,

A

Deficiency in galactose 1 P UDP

Galactosemia

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24
Q

Without treatment galactosemia can lead to

A

Hyperamonemia,

sepsis - leading to shock and death, developmental delays - psychological and motor.

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25
Q

Management of galactosemia

A

Restrict or eliminate galactose from diet because thes elatients have not the enzyme galactose 1 P URidultransferase UDP

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26
Q

Most common lysosomal storage disease, dysfunctional metabolism of sphingolipids.
Defective GBA gene

A

Gaucher disease

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27
Q

Deficiency of ——— enzyme, characterizes Gaucher’s disease. Gene?

A

Gluco cerebro sidase enzyme
Gene GBA
Accumulation of beta- glucocerebrosidase within cells of liver, brain, bone marrow, kidney spleen and lungs.

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28
Q

Macrophages look like tissue drooled paper in the cell.

A

Gaucherie disease
Gene GBA
Accumulation of Beta gluco cerebro sidase

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29
Q

Type 1 in ashkenazi Jews, non neuropathic, hepatosplenomegaly.

Type 2 is fatal. Presents within 6 months of age. h/S Magaly, neuro findings, extensive brain damage, seizures, poor sucklingand swallowing reflexes, death within first few years of life

Type 3 is chronic neuropathic form
From childhood to adulthood,
Slowly progressinG neuro sx
Live into teens or adulthood

A

Gaucher’s disease types 1,2 and 3.

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30
Q

What types of Gaucher’s disease could be managed by replacement of the deficient enzyme ———?

A

Types 1 and 3.
Give enzyme beta gluco cerebrosidese
(Expensive, however)

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31
Q

GLB1 gene mutation. Two types Gm1 and Gm2 deficiency?

A

Beta galactosidase

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32
Q

Neurodegeneration, seizures, H/S Magaly, coarsening of facial features, skeletal abnormalities, lipid storage disease seen in early infants, severe form of GLB1 gene mutation

A

GM1 gangliosidosis caused by def in enzyme beta galatosidase

Gene GLB1

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33
Q

Late infantile form of this lipid storage deficiency presents in 1-3 years old withataxia, seizure, dementia, speech difficulties

A

GM1 gangliosidosis, gene GLB1, lipid storage disorder

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34
Q

Tay Sachs

A

GM2 gangliosidosis, askenazi jews, lipids accumulate in nervous system,

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35
Q

GM2 gangliosidosis
Cherry red macula,
Blindness, psychomotor retardation, death before 2 years of age

A

Tay Sachs

Deficiency in beta hexosaminidase A

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36
Q

Gm 2 gangliosidosis, Tay sachs disease

Deficiency?

A

Beta hexosaminidase A

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37
Q

Affects absorption of non polar Aa, most importantly Trptophan
Mutation?chromosome?

A

Chromosome 5

Gene SLC 6A19

38
Q

What aa does tryptophan make?

A

Niacin
Serotonin
Melatonin
Are made by it.

39
Q

Why is niacin important? What does it make?

A

Important because it makes NAD+

40
Q

If deficiency in niacin occurs then —-,—-,—- and —- Occur.

A

De,entra, dermatitis, diarrhea d if not treated then possibly death.

41
Q

MEchanism for harnup disease. Chromosome?

A

Chromosome 5
Gene SLC 6A19
MOO: impedes transport of neutral aa in intestines and kidneys.

42
Q

Sx of FTT, pellagra, photosensitivity, nystagmus, ataxias- intermittent, increased neutral aa in urine

A

Hartnup disease
Chro 5
Gene SLC 6A19

43
Q

These recommendations manage what?

High protein in diet, avoiding sunlight and drugs that may cause hyper sensitivity

A

Harnups disease management

44
Q

Defect in the IDUA gene, chromosome 4

A

Hurlers syndrome

45
Q

Inheritance of Hurler syndrome?

A

Autosomal recessive

46
Q

In hurlers Syndrome there is deficiency of what enzyme? Accumulation of what?

A

Alpha L Iduronidase
Se acumulan Heparan sulfate
Dermatan sulfate

47
Q

Child. Deaf, blind, coarse features

A

Hurler Syndrome
Autosomal recessive
Chromosome 4

48
Q

Umbilical or inguinal hernia seen at birth
Hepatosplenomegaly, macrocephaly, hydrocephalus, gargoilysm , visual deterioration, clouding of cornea, hearing loss, progressive mental retardation, death by first decade of life.

A

Hurlers Syndrome

49
Q

Management for hurlers Syndrome

A

Replace enzyme

50
Q

Hemochromatosis gene? Chro?

A

Gene HFE, chr 6

51
Q

Abnormally high absorption of iron in GI,gene? Chro?

A

Gene HFE
Chr 6
Hemochromatosis

52
Q

Where is the most important site for HFE expression?

A

Basolateral surface of small intestine

Hemochromatosis

53
Q

Hemochromatosis associated with two things

A

Liver cirrhosis

Hepatocellular carcinoma

54
Q

In mutations of HFE gene, chr 6, the iron accumulates in

A

Heart, pancreas (bronze diabetes or sickly gray skin), liver (cirrhosis, hepatocellukar carcinoma) and testicles

55
Q

Mutation in GALC, chrom 14

A

Krabbes disease

56
Q

In mutations of GALC , chro 14, there is deficiency of enzyme

A

Galacto- cerebro sidase causing degeneration of Myelin sheath in the CNS

57
Q

Deficiency of galacto cerebro sidase causing myelin degeneration in CNS

A

Krabbes disease,chrom 14, gene GALC

58
Q

Irritability, Fever, feeding difficulty, vomiting, seizures, mental motor regression, spasticity, deafness, optic nerve atrophy, muscle weakness, problem in GALC

A

Krabbes disease, degenerates myelin,
Chro 14
Gene GALC
deficiency of galacto cerebrosidase

59
Q

Management of a deficiency on galacto cerebrosidase

A

Bone marrow transplant
Chr, 14
Gene GALC

60
Q

Primary cikiary dyskinesia, Dunedin arm defect, sperm can’t move, cilia can’t move, situs inversus

A

Kartagener syndrome

61
Q

Why are people with kartageners syndrome prone to mucocikiary infections?

A

No cilia action movement. So no cleaning of pathogens.

62
Q

Situs inversus with dextrocardia would look show up like what

A

Right axis deviation

63
Q

Disruption of formation of integrins, which are needed for migration of leukocytes from vascular space to tissues,

A

Leukocyte adhesion def

64
Q

In leukocyte adhesion def there is a genetic absence of which integrins?

A

CD18

65
Q

Late separation of umbilical cord. Poor wound healing. Recurring skin infections. Gingival inflammation.

A

Leukocyte adhesion deficiency

66
Q

This enzyme if required for breakdown of leucine, valine, isoleucine

A

Branched-chain alpha keto acid dehydrogenase complex

67
Q

Lysosomal storage disease. Myelin is destroyed in CNS and PNS. In late infantile form: developmental delays, difficulty walking around 2nd year of life, muscle rigidity, wasting and paralysis of swallowing muscles, loss of vision porgressive, dementia and possibly coma. Dx?

A

Metacheomatic leukodystrophy

68
Q

In metachromatic leukodystrophy. Enzyme def?

A

Aryl sulfatase A, buildup of sulfatides in tissue and destruction of myelin in both CNS and PNS.

69
Q

Multiple sclerosis sx in children. Dx?

A

Metachromatic leukodystrophy

70
Q

This lysosomal storage disease strikes between 3-10 years old. Poor school performance, progressive sx of mental deterioration, dementia plus sx of late infantile form develop. Def in Aryl sulfatase A enzyme.

A

Metachromatic leukodystrophy

71
Q

Inheritance of metachromatic leukodystrophy

A

Autosoma recessive

72
Q

Whcih lysosomal storage dosease should be included in a differential that includes schizophrenia, drugs and wilson’s Disease
Presenting in a 16 year old with psychiatric disturbances that progress to dementia?developes slowly over the course of a decade or more. Considered a terminal illness. No cure,

A

Metachromatic leukodystrophy

Def in aryl sulfatase A enzyme

73
Q

Inheritance of sickle cell disease?

A

Autosomal recessive

74
Q

Hemolysis, vaso occlusive sx, infections. Mc in African Americans

A

Sickle cell disease

75
Q

African American man with increase in indirect bilirubin concentration and increased levels of lactate DH, dactylitis with swelling, warmth and pain of hands and foot, sausage digits, erythematous inflamed digits, predisposed to infections with encapsulated organisms.

A

Sickle cell disease

76
Q

Encapsulated organisms (name 6)

A 
Strep pneumonia, 
pseudomonas aeruginosa, 
salmonella, 
meningitidis
, hemophilous influenza
, cryptococcus neoformans
77
Q

Person cannot make dopamine, epinephrine or norepinephrine. Why?

A

Def in phenylalanine hydroxylase

PKU

78
Q

Light skin, blonde eyes, blue eyes, musty odor, hypopigmentation, intellectual deficiencies,

A

PKU

Def in phenylalanine hydroxylase

79
Q

In PKY the body cannot convert ——- into ——-

A

Phenylalanine into tyrosine, this cannot make dopamine, NE y epi. Or melanin.

80
Q

What causes the musty odor in PKY?

A

Accumulation of

  1. Phenylacetate
  2. phenylpyruvate
  3. Phenethylamine
81
Q

Inheritance of Wilson’s disease

A

Autosomal recessive

82
Q

Inheritance of PKU?

A

Autosomal recessive

83
Q

Inheritance of metachromatic leukodystrophy

A

Autosomal recessive

84
Q

Toxic accumulation of copper in eyes, liver, brain. And kidney. Mutation? Chrom?

A

Wilson’s disease
Chro 13
Gene ATP 7B

85
Q

Young patient (kid or teenager) with Parkinsonism (cogwheel rigidity bradykynesia, ataxia, dystonia)

A

Wilson’s disease
Chr 13
Gene ATP 7B

86
Q

Teenager with parksinonism, hepatimegaly, and arthritis

A

Wilson’s disease
Chro 13
Gene ATP 7B

87
Q

In Wilson’s disease, there is a problem wit( protein ——- such that copper in the liver isn’t incorporated to ——. Thus, it accumulates in the liver, leading to oxidative damage.

A

ATP 7B protein

Ceruloplasmin

88
Q

What things are Dx for Wilson’s disease?

A
  1. Káiser fleischer rings - pathognomonic, seen with a lamp
  2. Neuropsychiatric sx like Parkinsonism
  3. High serum copper
  4. Urinary copper with no hepatitis
  5. low ceruloplasmin
89
Q

What is the cause of Kaiser fleischer rings?

A

Accumulation of copper in the descements layer

90
Q

Management of Wilson’s?

A

Chelator Penicillamine

Diet low in copper

91
Q

Copper tends to accumulate, when in the brain, in the

A

Basal ganglia, generating psychosis and Parkinson’s

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