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chromosome prep and analysis > Exam 2 > Flashcards

Exam 2 Flashcards

1
Q

FISH method was first described by _ in (year)

A

Pinkel in 1988

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2
Q

describe FISH

A

fluorescent detection of probe DNA hybridized to chromosomal target sequence

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3
Q

what is the goal of FISH

A

to visualize chromosomal abnormalities at molecular level

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4
Q

genomic DNA (or cDNA) that is cloned into bacterial vector/clone is called

A

bacterial artificial chromosome probe

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5
Q

the average size of DNA inserted into the bacterial artificial chromosome is

A

200k-300k base pairs

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6
Q

what are the two sources of DNA used in FISH

A
  • target DNA = chromosomal DNA

- probe = gene or piece of DNA of interest

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7
Q

chromosomal DNA and the probe are incubated together in a _ solution to allow __

A

salt solution to allow complementary base-pairing between these DNAs

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8
Q

washing solution is applied to the slide to _

A

remove excess amount of probe

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9
Q

what is the name of the fluorescent dye that is used in FISH

A

DAPI

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10
Q

what are the different types of FISH probes based on the target chromosomal sequences

A
  • centromere (satellite DNA) probes
  • locus-specific (unique sequence) probes
  • telomere probes
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11
Q

what are the different types of FISH probes based on types of vector

A
  • bacterial artificial chromosome (BAC) probes
  • yeast artificial chromosome (YAC) probes
  • cosmid probes
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12
Q

which probes did Pinkel use in his paper

A

cosmid probes

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13
Q

role of telomere

A

protect integrity of chromosome

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14
Q

how long are BAC probes

A

200k-300kb long

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15
Q

how long are YAC probes

A

1-2 million bp long

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16
Q

how long are cosmid probes

A

15k-20kb long

17
Q

why did Pinkel et al. have to use cosmid library

A

to enhance the probe signal, because cosmid is relatively small

18
Q

syndrome caused by microdeletion in chromosome 17 p arm, location p11.2

A

Smith Magenis syndrome

19
Q

microdeletion can be detected using

A

FISH or aCGH

20
Q

aCGH stands for

A

array comparative genomic hybridization

21
Q

TDF stands for

A

testis determining factor

22
Q

TDF is also known as

A

sex-determining region Y (SRY) protein

23
Q

where is TDF/SRY gene located

A

on lower portion of pseudoautosomal region (lighter region) of Y chromosome

24
Q

in what year was Smith Magenis syndrome karyotyped

A

1987

chromosome prep and analysis (1 decks)

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