Genetics II

Question 1

Method of becoming aneuploid where chromatids stay together

Answer 1

Nondisjunction

Question 2

Method of becoming aneuploid where one chromatid gets left behind in cytoplasm and is lost

Answer 2

Anaphase lag

Question 3

Mosaicism is common in sex or autosomal chromosomes?

Answer 3

Sex chromosomes

Question 4

two or more cell populations with different chromosome complements in a single organism

Answer 4

Mosaicism

Question 5

Inversion that does not involve centromere

Answer 5

Paracentric

Question 6

Inversion that involves centromere (involves both arms, p and q)

Answer 6

Pericentric

Question 7

Describes a deletion where two breaks in chromosome arm with intervening material lost

Answer 7

Interstitial

Question 8

Describes a deletion where one break in arm with loss of chromosome end

Answer 8

Terminal

Question 9

two chromosome breaks and intervening material is inverted and reincorporated into chromosome

Answer 9

Inversion

Question 10

one arm is lost and remaining arm is duplicated; resulting chromosome has two short or two long arms

Answer 10

Isochromosome

Question 11

rearrangements involving 2 or more nonhomologous chromosomes

Answer 11

Translocation

Question 12

Type of translocation involving Two acrocentric chromosomes (really short small arms)
Long arms fuse at centromere and Short arms are lost
Parent may be normal phenotype but pass disease on to children

Answer 12

Robertsonian translocation

Question 13

Genetics lab technique:
DNA pol runs in presence of differentially labeled nucleotides
Analyzing the length of the copies and the type of label of each allows construction of the sequence

Answer 13

Sanger sequencing

Question 14

Genetics lab technique: similar to Sanger but is massively parallel, millions of fragments are sequenced per run

Answer 14

Next generation sequencing

Question 15

Genetics lab technique: identifies variations in length of amplified segment
E.g. used to detect Fragile X syndrome

Answer 15

Amplicon length analysis

Question 16

Genetics lab technique: Molecular probe (nucleotide sequence) is labeled with a fluorescent tag
This sequence is made to complement the target sequence
Probe is incubated with cells to see if the target DNA sequence is present

Answer 16

Fluorescence in situ hybridization (FISH)

Question 17

Genetics lab technique: Orderly arrays of spots, each with a specific DNA segment
If complementary DNA strands are present in patient sample, they will hybridize
Detection system: red signal and green signal; yellow signal (both signals/genes present)
May also use a tagged antibody specific for the nucleic acid hybrid (hybrid capture)
Can produce millions of data points at once

Answer 17

DNA microarray