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M2M exam 2 > Shit I don't know > Flashcards

Shit I don't know Flashcards

1
Q

epigenetic changes are good for therapeutic potential because

A

they are erasable

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2
Q

DMD chromosome

A

Xp21.2

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3
Q

DMD in the the

A

exon

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4
Q

alpha thal

A

deletion in a-gene

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5
Q

turners is a

A

chrom deletion

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6
Q

hereditary neuropathy with liability is a

A

deletion of gene

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7
Q

charcot marie tooth is

A

duplication

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8
Q

AML two mutations

A
  1. PML RARa (15/17 translocation)

2. ABL1 BCR (9/22 translocation)

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9
Q

DS infants/children have a 20-100 fold risk for ____ and 500 x risk for _____

A

ALL or AML

AMKL

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10
Q

SMA chrom

A

5q 13

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11
Q

digeorge chrom

A

22q

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12
Q

neurofibromatosis type 1 chrom

A

17q11.2

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13
Q

achondroplasia chrom

A

4p16.3

1138 nucleotide

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14
Q

PKD1 chrom

A

16p13.3

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15
Q

PKD2 chrom

A

4q22.1

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16
Q

huntingtons chrom

A

4p16.3

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17
Q

fragile X chrom

A

X q 27.3

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18
Q

hemophilia A chrom

A

X q 28

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19
Q

hemohilia gene

A

F8

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20
Q

retinoblastoma chrom

A

13

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21
Q

retinoblastoma gene

A

RB1

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22
Q

5% of the time you get repeat in child with no family history of disease is because

A

one parent is mosaic in gonadal tissue

usually father

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23
Q

typically ___ allele is referred to as imprinted

24
Q

_____ risk for X-linked disease for no family history

25
Q

DNA damaging agents

A

ionizing radiation

26
Q

Marfan chrom

27
Q

Marfan gene

28
Q

paternal age

A

achondroplasia
marfan
apert

29
Q

evolutionary increasing gene copy, if you go too fast, get

A

macrocephaly and autism

30
Q

retrotransposition is

A

intersertional inactivation of genes

31
Q

ring chrom circularizes and acquires

A

kinetochore activity for stable transmission

32
Q

a contiguous gene is

A

an abnormal phenotype caused by over expression or loss of neighboring genes

33
Q

examples of contiguous gene

A
  1. velocardiofacial syndrom

2. digeorge

34
Q

velocardiofacial syndrome chrom

35
Q

velocaardiofacial symptoms

A

cleft palate

cardiac septal defects

36
Q

digeorge symptoms

A

absent thymus/parathyroid

37
Q

Down syndrome testing

A 
gCG,
AFP
estriol
inhibit
measuring nuchal folds in ultrasound
38
Q

most common medical problem in down syndrome

A

cardio abnormalities with AV canal

39
Q

evolution brain increase

A

increase 1 q21.1 instability
duplications= macrocephayl and autism
deletions= microcephaly, schizophrenia

increase in 1q21.2 increases DUF1220 copy #, which leads to evolutionary advantage

40
Q

CYP450 gene products are

A

active in liver and intestinal epithelium

41
Q

40% of all drugs=

42
Q

___ needed to convert codeine to morphine

43
Q

most CYP’s ____ drugs

A

inactivate

44
Q

poor metabolizers expected mutations

A
  1. frameshift
  2. splicing
  3. nonsense
  4. missense
45
Q

ultrafast metabolizer expected mutations

A
  1. increased copy number

2. missense

46
Q

procollagen is composed of

A

two pro-a1 chains and one pro-a2 chain

47
Q

osteogenesis imperfecta type one mechanism

A
  1. premature termination codons (nonsense and frameshift) in COL1A1
  2. mRNA unstable
  3. mRNA degrades
  4. reduction in normal COL1A1 protein
  5. autosomal dominant
48
Q

PMP 22 duplication

A

charcot marie tooth

49
Q

PMP 22 deletion

50
Q

Charcot marie tooth mutation

A

gain of function

Autosomal dominant

51
Q

CMT symptoms

A

weak lower extremities
mild sensory loss
muscle atrophy

52
Q

osteogenesis type 1 vs 2/3

A

type 1 is loss of function, half normal amount of total collagen, mild

2/3 novel protein function, normal amount of trimers, but they are abnormal. Very severe

53
Q

decreased amount of protein accounts for

A

a-thal
monosomy
tumor supressor mutation

54
Q

increased amount of protein accounts for

A

trisomy

CMT 1A

55
Q

inappropriate expression accounts for

A

HPFH

oncogenes

56
Q

hexosaminidase pattern Tay sachs

A

B variant

AB variant

57
Q

hexosaminidase pattern

sandhog disease

M2M exam 2 (23 decks)

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