genetic disorders

Question 1

sickle cell anemia

Answer 1

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

Question 2

beta thallasemia

Answer 2

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

Question 3

Hereditary anemia

Answer 3

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

Question 4

Tay Sachs Disease

Answer 4

Four-base INSERTION na nagcause ng frame shift mutation

Question 5

Cystic fibrosis

Answer 5

DELETION na nagcause ng frame shift mutaiton

Question 6

Fragile X syndrome

Answer 6

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

Question 7

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

Answer 7

Autosomal Dominant Disorders

Question 8

Neurofibromatosis Type 1

Answer 8

Example ng variable EXPRESSIVITY na mutation

Question 9

Huntington disease

Answer 9

Trinucleotide repeat that caused a GAIN OF FUNCTION mutation

Question 10

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

Answer 10

Truelaloo (imemorize niyo lahat ng autosomal dominant haha)

Question 11

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

Answer 11

Autosomal Recessive Disorders

Question 12

All inborn errors of metabolism halos

Answer 12

Autosomal Recessive Disorders

Question 13

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

Answer 13

X linked recessive

Question 14

Example of X linked recessive

Answer 14

G6PD

Question 15

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

Answer 15

X linked DOMINANT

Question 16

Example of X linked dominant

Answer 16

Vitamin D resistant rickets

Question 17

Accumulation of substrate (walang GALT)

Answer 17

galactosemia

Question 18

Lysosomal Storage Disease

Answer 18

Accumulation of substrate

Question 19

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

Answer 19

albinism

Question 20

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

Answer 20

Lesch nyhan syndrome

Question 21

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

Answer 21

a1 anti trypsin deficiency

Question 22

defect in receptor and transport system (konting LDL receptor)

Answer 22

familial hypercholesterolemia

Question 23

defect in receptor and transport system (defective Cl transporter)

Answer 23

Cystic fibrosis

Question 24

osteogenesis imperfecta

Answer 24

defective collagen

Question 25

hereditary spherocytosis

Answer 25

defective spectrin

Question 26

muscular dystrophies

Answer 26

defective dystrophin

Question 27

genetically determined adverse reaction to primaquine

Answer 27

G6PD

Question 28

mutated FBN1 gene

Answer 28

Marfan syndrome

Question 29

chromosome 15q21.1

Answer 29

Fibrillin 1 Marfan syndrome

Question 30

walang hexosaminidase A kaya puro GM2 gangliosides

Answer 30

Tay sachs (yung taTAY mo maraming GANG)

Question 31

sphingomyelin accumulation

Answer 31

Niemann Pick Disease

Question 32

glucocerebroside accumulation

Answer 32

Gauchers Disease (most common LSD)

Question 33

Mucopolysaccharide 1 accumulation

Answer 33

Hurler syndrome

Question 34

Mucopolysaccharide 2 accumulation

Answer 34

Hunter syndrome

Question 35

walang homogentisic oxidase kaya homogentisic acid accumulates

Answer 35

Alkaptonuria (Ochronosis)

Question 36

G6P deficiency

Answer 36

Von Gierke Disease (Type I)

Question 37

debranching enzyme deficiency

Answer 37

Cori Disease

Question 38

muscle phosphorylase deficiency

Answer 38

McArdle Syndrome (Type V)

Question 39

Phosphofructokinase deficiency

Answer 39

Type VII Glycogen storage disease

Question 40

acid maltase deficiency

Answer 40

Pompe Disease (Type II)

Question 41

Type 2 diabetes

Answer 41

Complex multigenic disorder

Question 42

46,XX

Answer 42

normal female

Question 43

46,XY

Answer 43

normal male

Question 44

mental retardatin, epicanthic folds, simian crease

Answer 44

trisomy 21 down syndrome

Question 45

rocker bottom feet, mental retardation, horse shoe kidney

Answer 45

trisome 18 edwards syndrome

Question 46

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

Answer 46

trisomy 13 patau syndrome

Question 47

chromosome 22q11.2 deletion syndrome

Answer 47

DiGeorge syndrome and Velocardiofacial syndrome

Question 48

47, XXY

Answer 48

Klinefelter syndrome (male hypogonadism)

Question 49

45,X

Answer 49

Turners Syndrome (female hypogonadism)

Question 50

CGG repeats

Answer 50

Fragile X syndrome

Question 51

mutation in mitochondrial gene example

Answer 51

Leber hereditary optic neuropathy

Question 52

deletion in paternal chromosome 15 (genomic imprinting)

Answer 52

Prader Willi Syndrome

Question 53

deletion in maternal chromosome 15 (genomic imprinting)

Answer 53

Angelman syndrome