chromosomal karyotype Flashcards by Zari Ami

Diagnoses disorders from a missing/additional chromosome

chromosomal karyotype

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General structures of cells containing DNA

chromosome

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Constricted portion = impt. for mitosis/cell division

centromere

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short arm

p arm

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long arm

q arm

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Photographic arrangement of a complete set of chromosomes of a cell/organism

karyotype

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Sample taken from the FLUID of the AMNIOTICsac

amniocentesis

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sample taken from the FETAL TISSUE that forms part of the PLACENTA

Chorionic villus sampling

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traditional types of staining

g-banding - Giemsa Stain
q-banding - Fluorescent Stain
r-banding - Reverse Giemsa Stain

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Used for mutagenic study

classic method

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For detection of numerical & structural chromosome abnormalities in clinical cytogenetics

banding methods

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Denaturation (Trypsin) of chromosomal parts (Proteins)

g-bands

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g-bands: dark stain

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g-bands: pale bands

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→ Saline solutions at high temperature = denatures proteins
→ Used to detect centromere/telomere parts

r-bands

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r-bands: dark bands

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r-bands: pale bands

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→ Strong denaturation of euchromatic parts

c-banding

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combination –> Denatures euchromatin and Leaves heterochromatin = stains dark

hcl or ba(oh) + saline sol. at high temp

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For study of heterochromatic variants

c-banding

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Stops mitosis in metaphase

colcemid/colchicine

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added in culture medium to stimulate mitosis

phytohemagglutinin

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fish means

fluoresence in situ hybridization

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Technique that hybridizes a DNA NUCLEI ACID PROBE to a target DNA sequence contained w/in
a cell nucleus

FISH

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Attached to a microscope slide using standard cytogenetic methods

intact cells

Nucleic acid that can be labeled w/ a marker

probe

Will hybridize (bind) to another NA on the basis of base complementarity

probe

radioactive

32P, 35S, 14C, 3H

Biotinylated

Avidin-streptavidin

Used to view chromosomes in METAPHASE of mitosis

LIGHT MICROSCOPE

Binds covalently to the specific specimen DNA

fish probe dna

Have specificity for a single human chromosome arm

telomeric parts

Contains a locus estimated to be w/in 300kb of the end of the chromosome

telomeric parts

Hybridized probe fluoresces w/ bright intensity along the LENGTH OF THE CHROMOSOME

WCP or Chromosome Painting Probes

in CEP, most are ?

alpha and satellite III probes

Centromere regions stained brighter = rich in A-T bonds

CEP or Chromosome Enumerator Probes

Deletion probes Translocation probes Gene detection & localization Gene Amplification Probes

LSI or Locus Specific Identifiers

Can provide ''colorized'' information relative to chromosome rearrangements

Multi Color FISH

Useful in specimens where chromosome preparations are LESS THAN OPTIMAL for standard banding analysis

MULTI COLOR FISH

FISH Procedure

denature chromosomes denature probes hybridization fluorescence staining examine slides or store in the dark

Formation of a DUPLEX b/w 2 complementary SEQUENCES

Nucleic Acid Hybridization

b/w 2 POLYNUCLEOTIDE chains w/ complementary BASES

Intermolecular Hybridization

Describes the hybridization of 2 complementary MOLECULES

ANNEALING

Probe & Target DNA are denatured together; Faster, easier, & safer hybridization

HYBRite (Automated hybridization)

Remains attached to the DNA during hybridization

Fluorescent molecule

Labeled w/ a colored fluorescent molecule

DNA probe

fluorescent molecule emits a particular color when viewed through?

FLUORESCENCE MICROSCOPE equipped w appropriate filter sets

FISH results in

<24 hours (colored)

Karyotypoing results in

7-10 days (pale/dark bands)

Amplifies a particular piece of DNA

polymerase chain reaction (PCR)

pcr was invented in

1984

Laboratory version of DNA Replication in cells

pcr

PCR: occurring in a living cell

IN VIVO in dna replication

PCR: occurs in a test tube = OUSTIDE human body

IN VITRO

Copying of DNA; Participated by more than 12 enzymes & proteins

DNA Replication in Cells (IN VIVO)

how many DNA strand is used as a template for goriwng a new DNA strand

1 DNA strand (semi-conservative)

Double helix made up of nucleotides

DNA

nucleotide is made up of

sugar + phosphate _nitrogenous base

DNA backbone on the outside of the helix

sugar-phosphate backbone

In nucleotide, 2 DNA strands are held together by

nitrogenous base pairs

2 DNA strands are attached to each other by

hydrogen bonds

uses each strand as a template to synthesize new DNA strands

dna polymerase

dna polymerase catalyzes the elongation of DNA by adding ? to the ?

nucleoside triphosphate at the 3' end of the growing strand

composition of the nucleoside triphosphate

1 sugar +1 base + 3 phosphates

what happens when nucleoside joins the DNA strand?

2 phosphates are removed

2 DNA strands are antiparallel

dna ligase

leading stran

lagging strand is synthesyzed in

okazaki fragments

→ Enzyme that can start an RNA chain from scratch

primase

→ Untwists the 2 parallel DNA strands

helicase

Relieves the stress of twisting

topoisomerase

→ Binds & stabilizes unpaired DNA strands

single strand dna molecules

Contains the target sequence to be copied

dna

Heat-stable DNA Polymerase

TAQ polymerase

TAQ DNA poly came from the sprin bacterium ?

thermus aquaticus

Serve as primers

2 Short, Single-stranded DNA Molecules

Device that can change temperatures dramatically in a very short period of time

thermal cycler

basis of pcr

temperature changes and its effects on DNA

temp denature dna

95C

temp primers anneal

40-65

temp extension or primer extension

72C

3 main steps in PCR

Denature DNA Primers anneal DNA polymerase adds nucleotides to the 3’ end of the primers

Short single stranded DNA molecules

Primers

Nitrogenous bases in DNA

ATGC