[Lab] Human Chromosome Flashcards
Group A chromosome numbers + centromere position
1-3, metacentric / submetacentric
Group B chromosome numbers + centromere position
4-7, very submetacentric / submetacentric
Group C chromosome numbers + centromere position
8-12 + X, slightly to very submetacentric
Group D chromosome numbers + centromere position
13-15, acrocentric
Group E chromosome numbers + centromere position
16-18, mostly submetacentric
Group F chromosome numbers + centromere position
19-20, metacentric
Group G chromosome numbers + centromere position
21-22 + Y, acrocentric (Y = very submetacentric)
chromosome associated with Rh blood group
chromosome 1
chromosome associated with spontaneous abortion
chromosome 2
chromosome associated with phenylketonuria
chromosome 4
chromosome associated with Cri du Chat syndrome
chromosome 5
chromosome associated with MHC locus
chromosome 6
chromosome associated with histone and collagen synthesis
chromosome 7
chromosome associated with Warkany syndrome
chromosome 8
chromosome associated with globulin production
chromosome 11
chromosome associated with Patau syndrome
chromosome 13
chromosome associated with Prader-Willi syndrome
chromosome 15
chromosome associated with Edward syndrome
chromosome 18
chromosome associated with Down syndrome
chromosome 21
type of clinical cytogenetics used in diagnosis of heritable genetic abnormalities
routine / constitutional testing
type of clinical cytogenetics used in detection of acquired or somatic abnormalities
cancer diagnosis
3 steps for preparation of human metaphase chromosome
- culture initiation
- culture maintenance
- cell harvest
4 possible sources of specimen collection and handling
- peripheral blood
- bone marrow aspirates
- amniotic fluid
- solid tissue biopsies
what is sodium heparin used for?
prevention of clotting of specimens
examples of growth media
RPMI 1640, fetal bovine serum (FBS)
examples of microbial inhibitors
penicillin, streptomycin, kanamycin
mitotic stimulant
phytohemagglutinin (PHA)
optimal temperature for culture maintenance
37˚C
optimal time interval for bone marrow culture maintenance
anytime, or 24-48 hrs
optimal time interval for peripheral blood cell culture maintenance
72 hrs
mitotic inhibitor
colcemid
hypotonic solution
KCl
fixative
3 CH3OH : 1 CH3COOH