Chapter 8

Question 1

a trait resulting from gene transcription and translation

Answer 1

phenotype

Question 2

a change in DNA sequence that is present in at least 1% - 2% of the population is called

Answer 2

polymorphism

Question 3

a reciprocal translocation is which type of mutation

Answer 3

chromosome

Question 4

a polymorphism is distinguished from a mutation in what way

Answer 4

it’s frequency in a given population

Question 5

downs syndrome is caused when an extra copy of chromosome 21 is created, which is what kind is genetic event

Answer 5

genome mutation

Question 6

what is the designation of a cell with 3 copies of every chromosome

Answer 6

triploid

Question 7

what is the proper order for the 4 phases of the cell cycle

Answer 7

G1, S, G2, M

Question 8

a nucleosome consists of DNA and which combinations of histone proteins

Answer 8

2 (H2A), 2 (H2B), 2(H3), 2 (H4)

Question 9

what are the structures found only at the ends of human chromosomes

Answer 9

telomeres

Question 10

a chromosome that has the centromere in the center of the chromosome is called

Answer 10

metacentric

Question 11

the short arm of the chromosome is designated as what

Answer 11

p

Question 12

human chromosomes 21 and 22 are described as which of the following with regard to the location of the centromere

Answer 12

acrocentric

Question 13

what is involved in connecting the centromere to the spindles during chromosome segregation in mitosis

Answer 13

kinetochore

Question 14

when chromosomes are stained with Giemsa the resulting bands are called

Answer 14

G bands

Question 15

in a c banding pattern, what parts of the centrosome stands

Answer 15

centromere

Question 16

which of these of Chromatin are open and actively involved in gene expression, transcription

Answer 16

euchromatin

Question 17

examination of chromosomes in karyotypes is performed on chromosomes and what stage of mitosis

Answer 17

metaphase

Question 18

how is high-resolution banding achieved

Answer 18

stain the chromosomes before maximal condensation

Question 19

chromosomes are divided into different parts, and locations are denoted by numbers corresponding to the different parts in which order

Answer 19

chromazone, region, band, sub band

Question 20

Colcemid is used in the procedure of preparing a chromosome spread for karyotype analysis to do what

Answer 20

inhibit microtubule formation

Question 21

an example of genetic material between chromosomes is called

Answer 21

translocation

Question 22

a chromosome formed when parts of two or more chromosomes are joined to a third normal chromosome is called

Answer 22

derivative chromosome

Question 23

the karyotype of a normal male is designated by what

Answer 23

46, XY

Question 24

what would be most difficult to identify by karyotype

Answer 24

micro deletion

Question 25

a medical laboratory scientist performs fluorescence in situ hybridization (fish) on interphase chromosomes using a probe to chromosome 21. In all cells examined, two signals were seen. These results are interpreted as

Answer 25

normal

Question 26

what is an advantage of interphase fish as compared with metaphase fish

Answer 26

results are available faster in interphase fish procedures

Question 27

interphase fish has been performed on a patient sample. With a chromosome 8 centromeric probe, two signals are observed in each spread examined. Approved for the immunoglobulin heavy chain region on chromosome 14 gives two distinct signals per nucleus, and a probe for the myc gene on chromosome 8 gives two distinct signals per nucleus. What is the interpretation

Answer 27

the patient is normal

Question 28

in spectral karyotyping, each of the 23 chromosomes is distinguished by

Answer 28

fluorescent color

Question 29

comparative genome hybridization detects which type of genetic abnormalities

Answer 29

amplifications relative to reference DNA

Question 30

before its conversion to a micro air ride technique, CGH was performed by hybridizing labeled DNA to what support

Answer 30

immobilized PCR products

Question 31

the permanent transmissible change in the genetic material, usually in a single Gene

Answer 31

mutation

Question 32

DNA sequence changes in specific genes, often small changes in DNA sequence but not always

Answer 32

Gene

Question 33

two types of polymorphism

Answer 33

balanced (sickle cell) and benign (ABO)

Question 34

DNA double helix wrapped around histones proteins

Answer 34

nucleosomes

Question 35

submetacentric

Answer 35

off centered. 13

Question 36

long arm

Answer 36

q

Question 37

phytohemagglutinin PHA

Answer 37

stimulate cell division

Question 38

arrest cells in metaphase

Answer 38

colcemid

Question 39

fixes metaphase chromosomes for staining

Answer 39

3:1 ratio methanol:acetic acid

Question 40

hybridization of complementary gene or region-specific fluorescent probes to chromosomes

Answer 40

fluorescent in situ hybridization (FISH)

Question 41

what are the four types of FISH probes

Answer 41

Gene specific, repetitive sequence probes, whole genomic DNA probes, chromosome painting Pros

Question 42

greater or less than 2 signals per nucleus is considered abnormal in

Answer 42

interphase FISH