LECTURE III

Question 1

this is the study of inheritance through the lens of structure and function of chromosomes?

Answer 1

cytogenics

Question 2

name the purines?

Answer 2

adenine and guanine

Question 3

name the pyrimidines?

Answer 3

cytosine, thymine, uridine

Question 4

coiled solenoid (to protect genetic material as they go through mitosis or meiosis (contains proteins and DNA))

Answer 4

chromatin

Question 5

each turn contains 6 nucleosomes and 1200 nucleotide pairs?

Answer 5

solenoid

Question 6

DNA wound twice around an octane of histones (2 subunits each of H2A, H2B, H2, H4, plus an unconcerned H1 that anchors the DNA)

so as a result, this structure of interphase chromosome allows more/less access to the sequence for transcription, what is this called?

Answer 6

nucleosome

epigenetics

Question 7

what form of double stranded DNA is this?

right-handed, 11bp/turn, crystal structure

Answer 7

A form

Question 8

what form of double stranded DNA is this?

right-handed, 10bp/turn, most common form

Answer 8

B form

Question 9

what form of double stranded DNA is this?

left-handed, 12 bp/turn. alternating CGCGCG

Answer 9

Z form

Question 10

heterochromatin has DNA Methylation or DNA Demethylation?

Answer 10

DNA methylation

Question 11

T/F, heterochromatin has high or low AT content?

Answer 11

high

Question 12

Euchromatin is histone methylation or histone acetylation?

Answer 12

histone acetylation

Question 13

Euchromatin or heterochromatin has high GC content?

Answer 13

Euchromatin

Question 14

this has highly repetitive DNA that protects the chromosomal ends from degradation. Per each division, the tail shortens. Conversely lengthened by telomerase?

Answer 14

telomere

Question 15

in producing a karyotype, the chemicals used stop mitosis in what phase?

Answer 15

metaphase

Question 16

this type of technique stains chromosomes with Giemsa stain and labels heterochromatin?

Answer 16

G-banding

stains A-T rich; dark; gene poor areas

Question 17

this type of technique stains chromosome with acridine orange and labels euchromatin?

Answer 17

R-banding

stain G-C rich; dark; X chromosome abnormalities

Question 18

this type of technique stains denatured chromosomes with Giemsa stain and labels heterochromatin more specifically?

Answer 18

C-banding

stains the centromeric heterochromatin and chromosomes with large heterochromatin sections

Question 19

this type of staining uses UV florescent and has the same patterning as G banding microscope?

Answer 19

Q banding: Quinacrine stain

AT-rich heterochromatin

Question 20

this typing can identify the loss of heterozygosity or translocation

Answer 20

SKY typing

Question 21

this typing can identify loss of heterozygosity (LOH) or translocation?

Answer 21

FISH typing

Question 22

what can chromosomal microarray detect?

Answer 22

microdeletions and microduplications

abnormalities of chromosome number

unbalanced rearrangements

excessive homozygosity

mosaicism

Question 23

de novo terminal deletion of chromosome 15q26.1 is linked to?

Answer 23

congenital diaphragmatic hernia (CDH) as well as congenital malformations and developmental delay

Question 24

this type of chromosome is a characteristic translocation between chromosome 22 and 9. Rearrangement results in the expression of an aberrant active signaling molecule that is always active and stimulating cel proliferation, specifically a form of leukemia?

Answer 24

The Philadelphia Chromosome

Question 25

this type of translocation joins a normal, non homologous, acrocentric chromosome, breakage and rejoining occurs, this translocation happens as a result?

Answer 25

robertsonian translocation

Question 26

name this syndrome: this is a range of developmental problems including including learning disabilities, cognitive impairment, characteristic physical anomalies. More more affected?

Answer 26

Fragile X syndrome

Question 27

this type of chromosomal disorder is found within the FMR1 gene. Most people carry some repeats but addition of additional repeats leads to syndrome?

Answer 27

CGG triplet repeat expansion

Question 28

this type off disease develops chorea, changes in personality, cognitive issues and CAG repeat expansion within the HTT gene?

Answer 28

Huntington disease