Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pathology > Chapter 5 - Genetic Disorders > Flashcards

Chapter 5 - Genetic Disorders Flashcards

1
Q

These arise from structural or numerical alteration in the autosomes and sex chromosomes.

A. Monogenic diseases
B. Chromosomal disorders
C. Complex multigenic disorders
D. Polymorphisms

A

B. Chromosomal disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

This is a change in which a single base is substituted with a different base.

A. Point mutation
B. Nonsense mutation
C. Deletions
D. Insertions

A

A. Point mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Fragile X syndrome is a result of what type of mutation?

A. Translocation
B. Frameshift mutation
C. Amplification
D. Trinucleotide-repeat mutation

A

D. Trinucleotide-repeat mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

All of the following are TRUE about autosomal dominant disorders EXCEPT

A. Manifested in the homozygous state
B. At least 1 parent of an index case affected
C. Both males and females affected, both can transmit condition
D. There are variations in penetrance and expressivity

A

A. Manifested in the homozygous state

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

This refers to inheritance of the mutant gene but is phenotypically normal

A. Complete penetrance
B. Incomplete penetrance
C. Partial penetrance
D. Autosomal penetrance

A

B. Incomplete penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

All of the following are autosomal dominant disorders of the nervous system EXCEPT

A. Huntington disease
B. Neurofibromatosis
C. Myotonic dystrophy
D. Spinal muscular atrophy

A

D. Spinal muscular atrophy

Autosomal recessive = “atrophy” “ataxia”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

All of the following are autosomal dominant disorders of the skeletal system EXCEPT

A. Alkaptonuria
B. Marfan syndrome
C. Osteogenesis imperfecta
D. Achondroplasia

A

A. Alkaptonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Thalassemia is a/an __________

A. X-linked disorder
B. Y-linked disorder
C. Autosomal dominant disorder
D. Autosomal recessive disorder

A

D. Autosomal recessive disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Sickle cell anemia is a/an __________

A. X-linked disorder
B. Y-linked disorder
C. Autosomal dominant disorder
D. Autosomal recessive disorder

A

D. Autosomal recessive disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

All are X-linked recessive disorders EXCEPT

A. Cystic fibrosis
B. Hemophilia A and B
C. G6PD deficiency
D. Fragile X syndrome

A

A. Cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Deficiency in α1-antitrypsin may lead to which of the following?

A. Phenylketonuria
B. Hypercholesterolemia
C. Cystic fibrosis
D. Pulmonary emphysema

A

D. Pulmonary emphysema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Which of the following protein is mostly associated with Marfan syndrome?

A. Collagen
B. Fibrillin
C. Dystrophin
D. Spectrin

A

B. Fibrillin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Which of the following are the most striking feature of Marfan syndrome?

A. Ocular changes
B. Cardiovascular lesions
C. Skeletal abnormalities
D. Aortic dissection

A

C. Skeletal abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Ectopia lentis (lens dislocation) is mostly associated with what condition?

A. Osteogenesis imperfecta
B. Ehlers-Danlos syndrome
C. Marfan syndrome
D. Duchenne muscular dystrophy

A

C. Marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What valve is mostly involved in cardiovascular lesions of Marfan syndrome?

A. Mitral
B. Tricuspid
C. Aortic
D. Pulmonic

A

A. Mitral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

All of the following are TRUE about Marfan syndrome EXCEPT:

A. Mutation in FBN2 gene (chromosome 15q21.1)
B. Fibrillin controls bioavailability of TGF-ß
C. Reduced or altered form of fibrillin give rise to abnormal and excessive activation of TGF-ß
D. Excessive TGF-ß leads to inflammation causing loss of ECM

A

A. Mutation in FBN2 gene (chromosome 15q21.1) –> FBN1

17
Q

This is the most common autosomal recessive form of EDS.

A. Kyphoscoliosis
B. Vascular
C. Classic
D. Dermatosparaxis

A

A. Kyphoscoliosis

Autosomal recessive = Kyphoscoliosis (K) & Dermatosparaxis (D)

18
Q

All of the following are skin manifestations of EDS EXCEPT:

A. Extraordinary stretchable
B. Extremely fragile
C. Easily bruised
D. None of the options

A

D. None of the options

19
Q

Familial hypercholesterolemia is caused by mutations in the gene encoding the receptor for ______

A. LDL
B. HDL
C. VLDL
D. IDL

A

A. LDL

20
Q

All of the following are true about FH EXCEPT:

A. Autosomal recessive disorder
B. 80 to 85% of the cases account for the mutations in the LDL receptor gene
C. Heterozygotes: elevated serum cholesterol greatly increases risk for atherosclerosis and resultant CAD
D. Homozygotes: greater increase in serum cholesterol, higher frequency of IHD

A

A. Autosomal recessive disorder

21
Q

Failure in synthesis of LDL receptor protein is what class of LDL receptor mutation?

A. Class I
B. Class II
C. Class III
D. Class IV

A

A. Class I

II = transport
III  = binding
IV = clustering
V = recycling
22
Q

All of the following are TRUE about lysosomes EXCEPT:

A. components of intracellular digestive system
B. contain battery of hydrolytic enzymes
C. synthesized in the Golgi apparatus and transported to ER
D. undergo posttranslational modification

A

C. synthesized in the Golgi apparatus and transported to ER

23
Q

Which of the following diseases is deficient in hexosaminidase A enzyme?

A. Tay-Sachs disease
B. Sandhoff disease
C. Niemann-Pick A and B disease
D. Wolman disease

A

A. Tay-Sachs disease

Sandhoff = A and B
Niemann-Pick A and B = Sphingomyelinase
Wolman = acid lipase

24
Q

Almost all of the patients of this disease have cherry-red spot.

A. Tay-Sachs disease
B. Niemann-Pick disease Type A
B. Niemann-Pick disease Type B
C. Niemann-Pick disease Type C

A

A. Tay-Sachs disease

Niemann-pick disease A and B = 1/3 to 1/2 of patients

25
Q

This disease has a defect in cholesterol transport and resultant accumulation of cholesterol and gangliosides in nervous system

A. Tay-Sachs disease
B. Niemann-Pick disease Type A
B. Niemann-Pick disease Type B
C. Niemann-Pick disease Type C

A

C. Niemann-Pick disease Type C

26
Q

Which of the following is a severe infantile form with extensive neurologic involvements, marked visceral accumulations of sphingomyelin, and progressive wasting and early death within the first 3 years of life?

A. Tay-Sachs disease
B. Niemann-Pick disease Type A
B. Niemann-Pick disease Type B
C. Niemann-Pick disease Type C

A

B. Niemann-Pick disease Type A

B = organomegaly but no CNS involvement

27
Q

Gaucher disease results from mutations in the gene encoding what enzyme?

A. glucosidase
B. galactosidase
C. galactosylceramidase
D. glucocerebrosidase

A

D. glucocerebrosidase

28
Q

Which of the following is the most common lysosomal storage disease?

A. Tay-Sachs disease
B. Gaucher disease
C. Wolman disease
D. Niemann-Pick disease

A

B. Gaucher disease

29
Q

Which of the following subtypes of Gaucher disease is the most common, accounting for 99% of the cases and is limited to mononuclear phagocytes of the body w/out involving the brain?

A. Type I
B. Type II
C. Type III
D. Type IV

A

A. Type I = Chronic non neuronopathic form

Type II = acute neuronopathic form
Type III = intermediate form

30
Q

Mutation of the glucocerebrosidase gene is the most common known genetic risk factor for development of what disease?

A. Huntington
B. Alzheimer
C. Parkinson
D. Dementia

A

C. Parkinson

31
Q

This is an autosomal recessive disease with a deficiency of α-L-iduronidase and considered one of the most severe forms of MPS.

A. Hurler syndrome
B. Hunter syndrome
C. Harley syndrome
D. Hauler syndrome

A

A. Hurler syndrome

Hunter = X-linked, milder

32
Q

Hepatomegaly and renomegaly is most commonly seen in what glycogen disease?

A. von Gierke disease (type I)
B. McArdle disease (type V)
C. Pompe disease (type II)
D. All of the above

A

A. von Gierke disease (type I)

McArdle = skeletal Muscle

Pompe = cardiomegaly

Pathology (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions