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Flashcards in Patho-Genetic Disorders Deck (42):
1

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

Somatic cell mutations

2

Altered dna codes for a different amino acid

Missense mutation

"Miss different"

3

Altered dna codes for same amino acid

Silent mutation

4

Altered dna codes for a stop codon

Nonsense mutation

5

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

Frameshift mutation

6

Amplification of a sequence of three nucleotides

Trinucleotide repeat mutations

7

Important in genetic counseling of people with trinucleotide repeat mutations.

Anticipation
Earlier pattern of disease per generation

8

Trinucleotide repeat diseases

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

9

Name the trinucleotide repeat.

Huntington's disease

CAG

10

Name the trinucleotide repeat.

Myotonic dystrophy

CTG

11

Name the trinucleotide repeat.

Friedrich's ataxia

GAA

12

Name the trinucleotide repeat.

Fragile X syndrome

CGG

13

____ disorders are most often due to defects in structural genes

Autosomal dominant

14

Penetrance and expressivity of autosomal dominant disorders

Incomplete penetrance
Variable expressivity

15

Population affected by autosomal dominant disorders

Male and female all generations

16

Age of presentation of autosomal dominant disorders

Delayed age of onset
Usually presents after puberty

17

Largest category of mendelian disorders

Autosomal recessive

18

Autosomal recessive disorders are geberally due to

Enzyme deficiencies

19

Probability in autosomal recessive that an offspring will get the disease

25%

20

Term for the affected individual in genetics

Proband

21

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

Does not transmit

22

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

Carriers

23

X linked recessive disorders

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

24

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

Half
Half

25

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

None if female parent is normal
All daughters

26

X linked dominant disorders

Alport's syndrome
Vitamin d resistant (hypophosphatemic) rickets

27

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

Transmits

28

Examples of diseases with mitochondrial inheritance

MELAS
leber's hereditary optic neuropathy

29

Components of MELAS

Mitochondrial myopathy
Encephalomyopathy
Lactic acidosis
Stroke like symptoms

30

Causes of death in 30-45% of marfan's

Aortic dissection
Cystic medial necrosis

31

Autosomal recessive in subtypes of ehlers danlos syndromes

VI kyphoscoliosis type
VIIc dermatosparaxsis

32

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

Marfans has ectopia lentis, mvp and aortic dissection

33

____ mutations are transmitted to progeny

Germ cell mutations

34

Familial hypercholesterolemia

Mutation in

Gene encoding for ldl receptor

35

Organs affected in tay sachs disease

Cns and retina predominantly

36

Morphology of tay sachs

Neurons are ballooned with cytoplasmic vacuoles

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

37

Deficiency in nieman pick disease

Sphingomyelinase

38

Differentiate the diff types of niemann pick disease

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

Type B- organimegaly without CNS involvement

Type C: accumulation of cholesterol

39

Morphology niemann pick disease

Zebra bodies - cytoplasmic bodies resembling concentrated myelin figures

40

How do you differentiate niemann pick and tay sachs

Niemann pick has hepatosplenomegaly

41

Most common lysosomal storage disorder

Gaucher's disease

42

Mutation in gauchers

Gene encoding glucocerebrosidase