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principles of disease > revisions > Flashcards

revisions Flashcards

1
Q

sickle cell anaemia

A

autosomal recessive

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2
Q

cystic fibrosis

A

autosomal recessive

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3
Q

achondroplasia

A

autosomal dominant

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4
Q

huntington’s disease

A

autosomal dominant

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5
Q

duchenne muscular dystrophy

A

sex linked

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6
Q

haemophilia

A

sex linked

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7
Q

down syndrome

A

trisomy 21 numerical abnormality arising from non-disjunction

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8
Q

patau syndrome

A

trisomy chromosome 13

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9
Q

Edward’s syndrome

A

trisomy 18

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10
Q

turner syndrome

A

45 x - female phenotype but infertile

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11
Q

klinefelter syndrome

A

male phenotype 17 XXY

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12
Q

what are the methods for DNA detection

A 
PCR
electrophoresis
RFLP analysis
ARMS 
DNA sequencing
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13
Q

what is the PCR technique

A

denature (94c), anneal(50-70c), extend(70-75c), repeat

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14
Q

HNPCC - hereditary nonpolyposis colorectal cancer is

A

autosomal dominant condition triggered from the failure of mismatch repair genes resulting in microsatellite DNA instability

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15
Q

consanguinity means

A

marriage between close blood relatives

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16
Q

what are the results of imprinting disorders?

A

angelman syndrome

prader willi syndrome

17
Q

uniparental diploidy can result in

A

gyogenic (maternal) ovarian teratoma
androgenic (paternal)
mass of placenta yielding a hydatidiform mole

18
Q

hypogammaglobulinaemia

require the infusion of

A

IVIg gamma globulins

19
Q

an MRI contrast agent is

A

gadolinium DTPA

20
Q

ideal radionuclide

A

99m technecium

21
Q

x ray is between

A

0.1 and 10 nanometres

22
Q

T cells produce what molecule to effect viruses

A

interferons

23
Q

warthin ffinkeldy type giant cell

A

associated with measles

24
Q

langhans giant cell

A

TB

25
Q

lack of what vitamins impairs healing

A

C,A

26
Q

endothelial mediators are

A

ICAM 1 and P selectin

27
Q

1 flagellum

A

monotrichous

28
Q

multiple flagellum 1 side

A

lophotrichous

29
Q

both sides have flagellum

A

amphitrichous

30
Q

flagellum all over

A

peritrichous

31
Q

leishmaniasis is an example of

A

protozal infection of the muco/cutaneous uclerations

32
Q

enterobius vermincularis

A

nematode, sellotape test

33
Q

ascaris lumbricoides

A

nematodes, transient pulmonary symptoms

34
Q

taenia saginata

A

cestodes found in beef through cysts

35
Q

taenia solium

A

cestodes found in pork through cysts

36
Q

echinococcus

A

fecal oral route from dogs, cestodes

principles of disease (1 decks)

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