CGCC

Question 1

What is chromatin?

Answer 1

DNA wound around histones

Question 2

What phase are chromosomes shown in karyotyping?

Answer 2

metaphase

Question 3

What type of staining is used in karyotyping?

Answer 3

Giesma staining

Question 4

how many chromosomes are there?

Answer 4

22 pairs of autosomes and 1 pair of sex chromosomes

Question 5

what does acrocentric mean?

Answer 5

the centromere is very near one end of the chromosome

Question 6

what are the phases of mitosis?

Answer 6

prophase, metaphase, anaphase, telophase

Question 7

What determines maleness?

Answer 7

SRY region in the short arm of the Y chromosome

Question 8

what does the SRY encode?

Answer 8

TDF (testes determining factor)

Question 9

what is aneuploidy?

Answer 9

irregular number of chromosomes

Question 10

What are the 3 most common aneuploidy diseases?

Answer 10

trisomy 21 - Down’s syndrome
trisomy 18 - Edward’s syndrome
trisomy 13 - Patau syndrome

Question 11

What is klinefelter syndrome?

Answer 11

XXY karyotype

- appear normal, normally diagnosed in fertility clinics

Question 12

what is turner syndrome?

Answer 12

X monosomy

infertile, limited secondary sexual characteristics

Question 13

What is XYY syndrome?

Answer 13

very tall

stereotyped as violent

Question 14

What is an example of an autosomal recessive disease?

Answer 14

cystic fibrosis

Question 15

what is an example of an autosomal dominant disease?

Answer 15

Hungtinton’s

Question 16

What is an example of an x-linked recessive disease?

Answer 16

Haemophilia A
affects males more
only mothers can pass on the disease

Question 17

WHat are the purines?

Answer 17

guanine and adenine

Question 18

What are the pyrimidines?

Answer 18

cytosine and thymine