Patho-Genetic Disorders

Question 1

___ cell mutations do not cause hereditary diseases however are impt in carcinogenesis

Answer 1

Somatic cell mutations

Question 2

Altered dna codes for a different amino acid

Answer 2

Missense mutation

“Miss different”

Question 3

Altered dna codes for same amino acid

Answer 3

Silent mutation

Question 4

Altered dna codes for a stop codon

Answer 4

Nonsense mutation

Question 5

Occurs if the number of base pairs involved is not a multiple of three

Answer 5

Frameshift mutation

Question 6

Amplification of a sequence of three nucleotides

Answer 6

Trinucleotide repeat mutations

Question 7

Important in genetic counseling of people with trinucleotide repeat mutations.

Answer 7

Anticipation

Earlier pattern of disease per generation

Question 8

Trinucleotide repeat diseases

Answer 8

Huntington’s disease
Myotonic dystrophy
Friedrich’s ataxia
Fragile X syndrome

Question 9

Name the trinucleotide repeat.

Huntington’s disease

Answer 9

CAG

Question 10

Name the trinucleotide repeat.

Myotonic dystrophy

Answer 10

CTG

Question 11

Name the trinucleotide repeat.

Friedrich’s ataxia

Answer 11

GAA

Question 12

Name the trinucleotide repeat.

Fragile X syndrome

Answer 12

CGG

Question 13

____ disorders are most often due to defects in structural genes

Answer 13

Autosomal dominant

Question 14

Penetrance and expressivity of autosomal dominant disorders

Answer 14

Incomplete penetrance

Variable expressivity

Question 15

Population affected by autosomal dominant disorders

Answer 15

Male and female all generations

Question 16

Age of presentation of autosomal dominant disorders

Answer 16

Delayed age of onset

Usually presents after puberty

Question 17

Largest category of mendelian disorders

Answer 17

Autosomal recessive

Question 18

Autosomal recessive disorders are geberally due to

Answer 18

Enzyme deficiencies

Question 19

Probability in autosomal recessive that an offspring will get the disease

Answer 19

25%

Question 20

Term for the affected individual in genetics

Answer 20

Proband

Question 21

In x linked recessive disorders, the affected male ______ the disorder to his sons

Answer 21

Does not transmit

Question 22

In x linked recessive disorders, the affected male makes his daughters _______

Answer 22

Carriers

Question 23

X linked recessive disorders

Answer 23

Bruton's aggamaglobulinemia
Wiskott Aldrich syndrome
Fabry's disease
Fragile X
G6PD
Ocular albinism
Lesch-Nyhan syndrome
Duchenne muscular dystrophy
Hunter syndrome
Hemophilia

Question 24

Affected heterozygous female in autosomal dominant diseases transmit to ________ sons and ______ daughters

Answer 24

Half

Half

Question 25

The affected male parent in autosomal dominant disorders transmit ________ sons and ____ daughters

Answer 25

None if female parent is normal

All daughters

Question 26

X linked dominant disorders

Answer 26

Alport’s syndrome

Vitamin d resistant (hypophosphatemic) rickets

Question 27

In mitochondrial inheritance, the affected female ______ the disease to all offsprings

Answer 27

Transmits

Question 28

Examples of diseases with mitochondrial inheritance

Answer 28

MELAS

leber’s hereditary optic neuropathy

Question 29

Components of MELAS

Answer 29

Mitochondrial myopathy
Encephalomyopathy
Lactic acidosis
Stroke like symptoms

Question 30

Causes of death in 30-45% of marfan’s

Answer 30

Aortic dissection

Cystic medial necrosis

Question 31

Autosomal recessive in subtypes of ehlers danlos syndromes

Answer 31

VI kyphoscoliosis type

VIIc dermatosparaxsis

Question 32

How do u differentiate marfan’s from ehlers danlos in clinical presentation?

Answer 32

Marfans has ectopia lentis, mvp and aortic dissection

Question 33

____ mutations are transmitted to progeny

Answer 33

Germ cell mutations

Question 34

Familial hypercholesterolemia

Mutation in

Answer 34

Gene encoding for ldl receptor

Question 35

Organs affected in tay sachs disease

Answer 35

Cns and retina predominantly

Question 36

Morphology of tay sachs

Answer 36

Neurons are ballooned with cytoplasmic vacuoles

Whorled configurations (onion skin layers due to gangliosides in lysosomes)

Question 37

Deficiency in nieman pick disease

Answer 37

Sphingomyelinase

Question 38

Differentiate the diff types of niemann pick disease

Answer 38

Type A- severe infantile form with extensive neurological involvement and organomegaly

Type B- organimegaly without CNS involvement

Type C: accumulation of cholesterol

Question 39

Morphology niemann pick disease

Answer 39

Zebra bodies - cytoplasmic bodies resembling concentrated myelin figures

Question 40

How do you differentiate niemann pick and tay sachs

Answer 40

Niemann pick has hepatosplenomegaly

Question 41

Most common lysosomal storage disorder

Answer 41

Gaucher’s disease

Question 42

Mutation in gauchers

Answer 42

Gene encoding glucocerebrosidase