[Lab] Human Chromosome Flashcards

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1
Q

Group A chromosome numbers + centromere position

A

1-3, metacentric / submetacentric

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2
Q

Group B chromosome numbers + centromere position

A

4-7, very submetacentric / submetacentric

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3
Q

Group C chromosome numbers + centromere position

A

8-12 + X, slightly to very submetacentric

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4
Q

Group D chromosome numbers + centromere position

A

13-15, acrocentric

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5
Q

Group E chromosome numbers + centromere position

A

16-18, mostly submetacentric

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6
Q

Group F chromosome numbers + centromere position

A

19-20, metacentric

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7
Q

Group G chromosome numbers + centromere position

A

21-22 + Y, acrocentric (Y = very submetacentric)

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8
Q

chromosome associated with Rh blood group

A

chromosome 1

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9
Q

chromosome associated with spontaneous abortion

A

chromosome 2

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10
Q

chromosome associated with phenylketonuria

A

chromosome 4

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11
Q

chromosome associated with Cri du Chat syndrome

A

chromosome 5

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12
Q

chromosome associated with MHC locus

A

chromosome 6

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13
Q

chromosome associated with histone and collagen synthesis

A

chromosome 7

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14
Q

chromosome associated with Warkany syndrome

A

chromosome 8

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15
Q

chromosome associated with globulin production

A

chromosome 11

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16
Q

chromosome associated with Patau syndrome

A

chromosome 13

17
Q

chromosome associated with Prader-Willi syndrome

A

chromosome 15

18
Q

chromosome associated with Edward syndrome

A

chromosome 18

19
Q

chromosome associated with Down syndrome

A

chromosome 21

20
Q

type of clinical cytogenetics used in diagnosis of heritable genetic abnormalities

A

routine / constitutional testing

21
Q

type of clinical cytogenetics used in detection of acquired or somatic abnormalities

A

cancer diagnosis

22
Q

3 steps for preparation of human metaphase chromosome

A
  1. culture initiation
  2. culture maintenance
  3. cell harvest
23
Q

4 possible sources of specimen collection and handling

A
  • peripheral blood
  • bone marrow aspirates
  • amniotic fluid
  • solid tissue biopsies
24
Q

what is sodium heparin used for?

A

prevention of clotting of specimens

25
Q

examples of growth media

A

RPMI 1640, fetal bovine serum (FBS)

26
Q

examples of microbial inhibitors

A

penicillin, streptomycin, kanamycin

27
Q

mitotic stimulant

A

phytohemagglutinin (PHA)

28
Q

optimal temperature for culture maintenance

A

37˚C

29
Q

optimal time interval for bone marrow culture maintenance

A

anytime, or 24-48 hrs

30
Q

optimal time interval for peripheral blood cell culture maintenance

A

72 hrs

31
Q

mitotic inhibitor

A

colcemid

32
Q

hypotonic solution

A

KCl

33
Q

fixative

A

3 CH3OH : 1 CH3COOH