Chapter 3: Genetic Basis of Disease

Question 1

Nitrogen base pairing DNA

Answer 1

A-T; G-C

Question 2

Nitrogen base pairing RNA

Answer 2

G-C; A-U

Question 3

exons

Answer 3

protein coding sequences(10% of genome)

Question 4

introns

Answer 4

dont provide coding info

Question 5

codons

Answer 5

arrangement of 3 specific DNA bases

Question 6

shorter segment of chromosome vs longer segment

Answer 6

p arm; q arm

Question 7

slow acetylators vs fast aceytlators

Answer 7

process drugs more slowly=higher blood levels, longer activity; lower blood levels

Question 8

oncogene

Answer 8

genetic mutation, which increases risk for cancer

Question 9

oncoproteins

Answer 9

defective proteins that direct radical growth

Question 10

tumor supressor genes

Answer 10

genes that inhibit uncontrolled cellular mitosis

Question 11

aneuploidy

Answer 11

alteration in chromosome division during meiosis; diff # of chromosomes

Question 12

translocation

Answer 12

piece of 1 chromosome breaks off and joins another

Question 13

Familial Hypercholesterolemia (FH)

Answer 13

autosomal dominant, causes severe elevations in total cholesterol and LDL

Question 14

Familial Adenhomatous Polyposis(FAP)

Answer 14

autosomal-dominant, early onset of 100-1000s polyps throughout colon

Question 15

Marfans Syndrome

Answer 15

CT disorder, mutations in fibrillin gene which causes lethal structural issues of major organs/ airway

Question 16

Neurofibromatosis(NF)

Answer 16

Type 1-more common, type 2- less cutaneous involvement; manifestions: cafe-au-lait spots, freckles, optic nerve tumor, long bone abnormalities

Question 17

Ehlers-Danlos Syndrome(ED)

Answer 17

Diminished strength and integrity of skin, joints and other CT

Question 18

Cystic Fibrosis(CF)

Answer 18

respiratory and pancreas, thick mucus plugging pancreas ductules

Question 19

Tay Sachs

Answer 19

deficient breakdown of ganglioside= destruction of neurons and brain cells; death by 3 years

Question 20

wilsons disease

Answer 20

excessive deposition of copper in liver, brain

Question 21

Klinefelters Syndrome

Answer 21

men XXY, lack of development of male parts

Question 22

Turner Syndrome

Answer 22

missing an X chromosome in females, lymphedema, short stature and infertility