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PBD I Exam 2 > Genetic Disorders I > Flashcards

Genetic Disorders I Flashcards

1
Q

SNP

A

variation at single nucleotide

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2
Q

CNV

A

copy number variation

-large stretches of DNA that are repeated

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3
Q

genomics

A

study of all genes

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4
Q

epigenetics

A

heritable changes not caused by changes in sequence

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5
Q

proteomics

A

study of proteins expressed in cells

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6
Q

miRNAs

A

inhibit gene expression

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7
Q

Dicer

A

cuts pre-miRNA

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8
Q

RISC

A

RNA inducing silencing complex

-complexed with miRNA to decrease gene translation

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9
Q

siRNA

A

therapeutic

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10
Q

most common cause of genetic disorders

A

multigenic disorders

  • caused by complex interactions of variant forms of genes
  • polymorphisms
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11
Q

missense

A

mutation alters meaning of sequnence

conservative - causes little change with AA switch
nonconservative - very different AA switch

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12
Q

sickle mutation

A

glutamic acid to valine in beta-globin of Hg

-causes sickle cell anemia

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13
Q

nonsense

A

encodes a stop codon

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14
Q

frameshift

A

alter reading frame

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15
Q

trinucleotide repeat mutations

A

amplification of sequence of three nucleotides

fragile x syndrome

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16
Q

fragile x syndrome

A

trinucleotide repeat mutation

-familial mental retardation 1 (FMR1)

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17
Q

mendelian disorders

A

mutation in single gene

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18
Q

codominant

A

full expression of both alleles in heterozygote

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19
Q

CCR5

A

used by HIV to enter cell

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20
Q

genetic heterogeneity

A

multiple different mutations lead to same outcome

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21
Q

pleiotropism

A

multiple end effects of single mutant gene

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22
Q

incomplete penetrance

A

individuals with mutant gene do not show phenotype

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23
Q

variable expressivity

A

trait caused by mutant gene is expressed differently

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24
Q

sperm of old men

A

can get autosomal dominant mutations

25
Q

autosomal dominant

A

often loss of function

  • nonenzyme proteins
  • structural proteins
26
Q

marfan syndrome

A

autosomal dominant

-affect of skeletal system

27
Q

ehlers-danlos syndrome

A

autosomal dominant

-affect skeletal system

28
Q

famililal hypercholesterolemia

A

autosomal dominant

-mutation in LDL receptor

29
Q

huntington disease

A

autosomal dominant

  • gain of function
  • huntingtin protein
  • toxic to neurons
30
Q

onset of dominant vs. recessive?

A

dominant later in life

recessive earlier in life

31
Q

autosomal recessive

A

often enzymes affected

32
Q

lysosomal storage diseases

A

autosomal recessive

33
Q

glycogen storage disease

A

autosomal recessive

34
Q

alkaptonuria

A

autosomal recessive

35
Q

G6PD deficiency

A

X-linked

  • predispose RBCs to hemolysis
  • often in males

anemia with malaria medication

36
Q

Vit-D rickets

A

X-linked dominant

37
Q

alpha-1 antitrypsin deficiency

A

decreased alpha-1 antitrypsin

  • missense mutation
  • leads to decreased metabolism of neutrophil elastase

emphysema and liver disease

38
Q

cystic fibrosis

A

genetic defect in chloride ion channels

39
Q

marfan syndrome

A

disorder in CT elastin

  • skeletal, ocular, cardivascular problems
  • reduced elasticity
  • autosomal dominant

defect in fibrillin 1 (FBN1)

40
Q

fibrillin-1

A

mutated in marfan syndrome

41
Q

clinical features of marfan

A 
tall stature, long extremities
long fingers and toes (arachnodactylyl)
joint laxity
long head (dolichocephaly)
spinal deformities
dislocated lenses (ectopia lentis)
mitral valve prolapse
striae skin

Dx:
-two out of four system involvement (cardiovascular, skeletal, ocular, cutaneous), with minor of one other

42
Q

arachnodactylyl

A

long fingers and toes

-seen in marfans

43
Q

ehler-danlos syndrome

A

defect in synthesis or structure of fibrillar collagen
-has 6 variants

fragile skin, hypermobile joints, rupture of colon and large arteries

44
Q

mitral regurgitation

A

in marfan syndrome

45
Q

lysyl hydroxylase

A

autosomal recessive mutation - cross-linking of collagen IV
-leads to kypohoscoliosis type of EDS

type VI

46
Q

COL3S1

A

autosomal dominant mutation - collagen type III
-vascular type of EDS

type IV

47
Q

COL1A1 and COL1A2

A

autosomal dominant mutation - defect in conversion of procollagen to collagen

in arthrochalasia type of EDS

type VIIa, b

48
Q

COL5A1 and COL5A2

A

autosomal dominant mutation - collagen type V

classical type of EDS

type I and II

49
Q

familial hypercholesterolemia

A

mutation in LDL receptor
-increases LDL in plasma

increased scavenger receptor cholesterol pathway
-xanthomas and premature atherosclerosis

50
Q

cholesterol metabolism

A

VLDL released from liver
-cleaved at fat or muscle cells - become IDL

IDL circulate with B-100 and E apoproteins

  • taken up by LDL receptor in liver
  • some converted to LDL

LDL in plasma removed by

  • liver
  • scavenger receptor
51
Q

LDL mechanism into liver

A 
bind receptor
taken in as coated pit
fuse with lysosome
enzyme degradation
leaves lysosome - via NPC1 and NPC2
52
Q

cholesterol feedback

A

supress cholesterol synthesis
activate esterification and storage of cholesterol
supress synthesis of LDL receptor

53
Q

mutation in synthesis of LDL receptor

A

class I

54
Q

mutation causing LDL receptor in ER

A

class II

55
Q

mutation causing LDL receptor that can’t bind

A

class III

56
Q

mutations causing LDL receptor that cannot form coated pits

A

class IV

57
Q

mutations in LDL recycling

A

class V

58
Q

classes of familial hypercholesterolemia

A

Class 1-5

1 - synthesis
2 - transport 
3 - binding 
4 - clustering 
5 - recycling

PBD I Exam 2 (18 decks)

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