PRE FI; CHROMOSOME MUTATION

Question 1

● All of the genes found in a single individual
● 2.9 billion nucleotide base pairs of DNA organized in 23 chromosomes
● Diploid organisms: 46 chromosomes

Answer 1

HUMAN GENOME

Question 2

• A difference in DNA sequence found in 1% to 2% or more of a given population
• Example: ABO blood group & major histocompatibility complex & polymorphism used for human ID and paternity testing

Answer 2

POLYMORPHISM

Question 3

• A CHANGE in the order or sequence of nucleotides in DNA found in less than 1% to 2% of a given population.

Answer 3

MUTATION

Question 4

• Maintained in a population through a balance of positive and negative phenotype.

Answer 4

BALANCED POLYMORPHISM

Question 5

Classification of Mutation:
- affect SINGLE GENES & are often, but not always, small changes in the DNA sequence

Answer 5

GENE MUTATION

Question 6

Classification of Mutation:
- affect the STRUCTURE of entire chromosomes

Answer 6

CHROMOSOME MUTATION

Question 7

Classification of Mutation:
- CHANGE IN THE NUMBER of chromosomes (aneuploidy)

Answer 7

GENOME MUTATION

Question 8

Visualizing Chromosomes
Conventional cytological stains?

Answer 8

Feulgen, Wright, and Hematoxylin

Question 9

Visualizing Chromosomes
Fluorescent dyes?

Answer 9

quinacrine and quinacrine mustard
Pattern: Q banding

Question 10

Visualizing Chromosomes
Chemical dye?

Answer 10

Giemsa stain
Pattern: G bands

Question 11

Visualizing Chromosomes
Harsher treatment of chromosomes (87C from 10 min. then coding to 70C)

Answer 11

Giemsa Staining
Pattern: R bands

Question 12

Visualizing Chromosomes
Alkali Treatment (Centromere staining)

Answer 12

Pattern: C bands

Question 13

Visualizing Chromosomes
Nucleolar organising region (NOR) staining:

Answer 13

SILVER NITRATE - stain specifically at the CONSTRICTED REGIONS, or STALKS on the ACROCENTRIC chromosomes

Question 14

Visualizing Chromosomes
- binds to the surface grooves of dsDNA
- fluoresces blue under UV light (353-nm wavelength)
- Visualization of Chromosomes and whole nuclei

Answer 14

4’6 diamidino -2- phenylindole (DAPI)

Question 15

___________ facilitates the:
- detection of deletions, insertions, inversions, and other abnormalities
- ID of distinct Chromosomal locations

Answer 15

CHROMOSOME BANDING

Question 16

Detection of Genome and Chromosomal Mutations:
- indirect method of detecting genome Mutations or aneuploidy
- measuring DNA content of individual cells
- Aneuploidy is reflected by a change in the amount of DNA

Answer 16

FLOW CYTOMETRY

Question 17

Detection of Genome and Chromosomal Mutations:
- direct method of detecting genome Mutations or aneuploidy observation of Metaphase chromosome
structure by arranging them according to size
- performed in light microscope

Answer 17

KARYOTYPING

Question 18

complete set of chromosomes in a cell

Answer 18

KARYOTYPE

Question 19

exchange of genetic material between chromosomes

Answer 19

TRANSLOCATION

Question 20

movement of long arm of an acrocentric chromosome to the Centromere of another
acrocentric chromosome

Answer 20

ROBERTSONIAN TRANSLOCATION

Question 21

loss of Chromosomal
material

Answer 21

DELETION

Question 22

gain of Chromosomal
material

Answer 22

INSERTION

Question 23

result from EXCISION,
flapping and reconnecting
Chromosomal material w/ in the chromosome

Answer 23

INVERSIONS

Question 24

INCLUDE CENTROMERE in the inverted region

Answer 24

PERICENTRIC INVERSION

Question 25

INVOLVE SEQUENCES within 1 arm of the chromosome

Answer 25

PARACENTRIC INVERSIONS

Question 26

metacentric chromosome resulting from TRANSVERSE SPLITTING of centromere during cell division

Answer 26

ISOCHROMOSOME

Question 27

RESULT FROM DELETION of genetic regions from
ends of the chromosome and a
joining of the ends to FORM A RING

Answer 27

RING CHROMOSOME

Question 28

TRANSLOCATED otherwise REARRANGED PARTS from 2 or more unidentified
chromosomes joined to a normal chromosome.

Answer 28

DERIVATIVE CHROMOSOME

Question 29

method widely used to
detect protein and nucleic acids

Answer 29

FLUORESCENCE IN SITU HYBRIDIZATION (FISH)