chromosomes microarrays€¦ · chromosomes and microarrays deciphering the technology angela...
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![Page 1: Chromosomes Microarrays€¦ · Chromosomes and Microarrays Deciphering the Technology Angela Scheuerle, M.D. Tesserae Genetics Texas BDES. Molecule of DNA 6 Feet of DNA in each Cell](https://reader035.vdocument.in/reader035/viewer/2022062916/5eb8fb04f3a21c36802308d2/html5/thumbnails/1.jpg)
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Chromosomes and MicroarraysDeciphering the Technology
Angela Scheuerle, M.D.Tesserae Genetics
Texas BDES
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Molecule of DNA
6 Feet of DNA in each Cell
ohyeahdevelopmentalbiology.tumblr.com
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Chromosome
• One huge molecule of DNA• 100s – 1000s of genes on each• Visible under a regular microscope• To be big enough to see, a change must be 4 million bases in size or greater (≥4Mb)– Roughly the size of a band on the chromosome
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Chromosomes
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46,XX
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46,XY
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47,XX,+21 47,XX,+13
45,XX,‐14 45,X
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Chromosomes
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46,XY,del(5)p 45,XX,t(14;21) or 45,XX,rob(14;21)
69,XXX
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Airplane Analogy
Looking at the genetic material like this Looking at a city like this
=
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From an Airplane
Having an extra chromosome
=
Adding a lake
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What about a particular address?
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Chromosomes
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ChromosomesXp22.31
Xq11.2
Xq25
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Xp22.31
9702 Vinewood
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What is the correct reading?
22q11.21 A) Twenty‐two q eleven point twenty oneB) Two two q one one point two oneC) Twenty‐two q one one point two oneD) Two two q eleven point twenty one
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What is the correct reading?
22q11.21
C) Twenty‐two q one one point two one
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FISH
• Will tell you what is going on at a particular address
• Won’t tell you what is going on anywhere else.• Limited usefulness these days as a first‐line test– You will see it less and less over time– Used as confirmation in microarray testing
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FISH
46,XX,ish(22)(q11.2) 46,XX,ish del(22)(q11.2q11.2)
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Interphase FISH
“Free” Trisomy Translocation Trisomy
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Missing the Lake
9702 Vinewood
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Cytogenomic Microarray
• CMA– Cytogenetic Microarray Analysis
• aCGH– Array Comparative Genome Hybridization
• Variety of proprietary names– Affy, Nimblegen, Roche, etc. – Generally identifying the company making the physical hardware
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Cytogenomic Microarray
• What it will tell you– Submicroscopic additions and deletions– Like doing FISH on 200,000 (or more) places– SNP arrays will tell about chromosome inheritance
• What it won’t tell you– Single gene mutations– Balanced translocations
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Cytogenomic Microarray
• Targeted • BAC (44K)• Oligo (150K+)• SNP (600K+)
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Airplane AnalogyLooking at the genetic material like this Looking at a city like this
=
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Mailman
Doing aCGHKnowing what mailboxes have mail in them
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Array
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Deletion 22q11.21
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Nomenclature
Indication Abbreviation(s)
FISH was done ish
Microarray was done arr
Extra of something “+”, “x”, add, dup, mar
Something missing “‐“, del, r
Rearrangement der, ins, inv, rob, t
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Normal v Abnormal
Technology Normal Result Abnormal Result
Routine Kayrotype 46,XX or 46,XY 46,XX,del(22)(q11.2)
FISH 46,XY,ish(22)(q11.2) 46,XY,ish del (22)(q11.2q11.2)
Microarray Arr (1‐22,X)x2 Arr (22)(q11.21q11.21)x1
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One Last Analogy
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Airplane AnalogyLooking at the genetic material like this Looking at a city like this
=
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Mailman
Doing aCGHKnowing what mailboxes have mail in them
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Water BillLooking for a mutation in a single gene
Is like seeing how much I owe on my water bill
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