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genetic disorders Flashcards

1
Q

sickle cell anemia

A

MISSENSE mutation from CTC to CAC (producing a diff protein)

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2
Q

beta thallasemia

A

NONSENSE mutation from CAG to UAG (naging stop codon bigla)

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3
Q

Hereditary anemia

A

mutation within NON CODING sequence (interfering with binding of transcription factors)

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4
Q

Tay Sachs Disease

A

Four-base INSERTION na nagcause ng frame shift mutation

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5
Q

Cystic fibrosis

A

DELETION na nagcause ng frame shift mutaiton

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6
Q

Fragile X syndrome

A

TRINUCLEOTIDE REPEAT MUTATION (4000 times umulit yung CGG instead of 29 times)

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7
Q

Both males and females are affected, both can transmit, At least one parent is affected, 1 in 2 chances

A

Autosomal Dominant Disorders

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8
Q

Neurofibromatosis Type 1

A

Example ng variable EXPRESSIVITY na mutation

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9
Q

Huntington disease

A

Trinucleotide repeat that caused a GAIN OF FUNCTION mutation

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10
Q

T/F - ang Marfan, Ehlers Danlos and Osteogenesis imperfecta ay AUTOSOMAL DOMINANT

A

Truelaloo (imemorize niyo lahat ng autosomal dominant haha)

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11
Q

Parents not usually affected, siblings may show disease, 25% chance,

A

Autosomal Recessive Disorders

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12
Q

All inborn errors of metabolism halos

A

Autosomal Recessive Disorders

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13
Q

affected male doesnt transmit to sons but daughters are carriers, son of heterozygous female has one in two chance

A

X linked recessive

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14
Q

Example of X linked recessive

A

G6PD

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15
Q

affected heterozygous female gives this to half her sons and half her daughters. Affected male parent to ALL his daughters but none of his sons if mom is unaffected

A

X linked DOMINANT

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16
Q

Example of X linked dominant

A

Vitamin D resistant rickets

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17
Q

Accumulation of substrate (walang GALT)

A

galactosemia

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18
Q

Lysosomal Storage Disease

A

Accumulation of substrate

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19
Q

Metabolic defect leading to dec amount of product (walang tyrosinase kaya onting melanin)

A

albinism

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20
Q

Metabolic defect leading to dec amount of product (walang feedback inhibitor kaya ang daming products)

A

Lesch nyhan syndrome

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21
Q

failure to inactivate a tissue damaging substrate (naninira yung neutrophil elastase)

A

a1 anti trypsin deficiency

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22
Q

defect in receptor and transport system (konting LDL receptor)

A

familial hypercholesterolemia

23
Q

defect in receptor and transport system (defective Cl transporter)

A

Cystic fibrosis

24
Q

osteogenesis imperfecta

A

defective collagen

25
Q

hereditary spherocytosis

A

defective spectrin

26
Q

muscular dystrophies

A

defective dystrophin

27
Q

genetically determined adverse reaction to primaquine

A

G6PD

28
Q

mutated FBN1 gene

A

Marfan syndrome

29
Q

chromosome 15q21.1

A

Fibrillin 1 Marfan syndrome

30
Q

walang hexosaminidase A kaya puro GM2 gangliosides

A

Tay sachs (yung taTAY mo maraming GANG)

31
Q

sphingomyelin accumulation

A

Niemann Pick Disease

32
Q

glucocerebroside accumulation

A

Gauchers Disease (most common LSD)

33
Q

Mucopolysaccharide 1 accumulation

A

Hurler syndrome

34
Q

Mucopolysaccharide 2 accumulation

A

Hunter syndrome

35
Q

walang homogentisic oxidase kaya homogentisic acid accumulates

A

Alkaptonuria (Ochronosis)

36
Q

G6P deficiency

A

Von Gierke Disease (Type I)

37
Q

debranching enzyme deficiency

A

Cori Disease

38
Q

muscle phosphorylase deficiency

A

McArdle Syndrome (Type V)

39
Q

Phosphofructokinase deficiency

A

Type VII Glycogen storage disease

40
Q

acid maltase deficiency

A

Pompe Disease (Type II)

41
Q

Type 2 diabetes

A

Complex multigenic disorder

42
Q

46,XX

A

normal female

43
Q

46,XY

A

normal male

44
Q

mental retardatin, epicanthic folds, simian crease

A

trisomy 21 down syndrome

45
Q

rocker bottom feet, mental retardation, horse shoe kidney

A

trisome 18 edwards syndrome

46
Q

polydactyly cleft lip and palata, renal defects, cyclops, mental retardation

A

trisomy 13 patau syndrome

47
Q

chromosome 22q11.2 deletion syndrome

A

DiGeorge syndrome and Velocardiofacial syndrome

48
Q

47, XXY

A

Klinefelter syndrome (male hypogonadism)

49
Q

45,X

A

Turners Syndrome (female hypogonadism)

50
Q

CGG repeats

A

Fragile X syndrome

51
Q

mutation in mitochondrial gene example

A

Leber hereditary optic neuropathy

52
Q

deletion in paternal chromosome 15 (genomic imprinting)

A

Prader Willi Syndrome

53
Q

deletion in maternal chromosome 15 (genomic imprinting)

A

Angelman syndrome

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