Chapter 6

Question 1

mutation

Answer 1

permanent changes in DNA

Question 2

germ line

Answer 2

all cells mutated (hereditary)

Question 3

somatic

Answer 3

some cells mutated (acquired)

Question 4

congenital

Answer 4

present at birth

Question 5

all hereditary disorders are congenital (T/F)

Answer 5

False (Many but not all hereditary disorders are congenital)

Question 6

Are all congenital disorders hereditary?

Answer 6

No.

Question 7

Achondroplasia, osteogenesis imperfecta are examples of?

Answer 7

hereditary congenital disorders

Question 8

Give two examples of hereditary disorders not present at birth?

Answer 8

Muscular dystrophy, asthma

Question 9

Name two examples of congenital disorders that were not inherited

Answer 9

Congenital syphilis, amniotic band constriction

Question 10

a nucleotide base is replaced by another, codes for alternative AA

Answer 10

Point mutations (missense)

Question 11

insertion/deletion of 1 or 2 nucleotides, alters “reading frame”

Answer 11

Frameshift

Question 12

amplification of a sequence of 3 nucleotides

Answer 12

Trinucleotide repeat

Question 13

what are the four categories of disorders

Answer 13

Mendelian disorders, multigenic/polygenic,

chromosomal abnormalities, and atypical inheritance

Question 14

Mendelian disorders (single gene mutations) are the most rare. (t/f)

Answer 14

True

Question 15

You may inherit a single gene mutation disorder in which way(s)

Answer 15

Autosomal dominant
Autosomal recessive
X-linked recessive

Question 16

single mutation may have avariety of phenotypic effects

Answer 16

Pleiotropy

Question 17

multiple mutations may be expressed as the same trait

Answer 17

Genetic heterogeneity

Question 18

Autosomal dominant disorders has ___% of being passed down to an affected parents offspring

Answer 18

50

Question 19

Autosomal dominant disorders have a _________ expression

Answer 19

heterozygous

Question 20

Autosomal dominant disorders are _______ in both male/females and have a _______ onset

Answer 20

equal; delayed age

Question 21

Factors associated with autosomal dom. disorders

Answer 21

Reduced penetrance and Reduced penetrance

Question 22

Autosomal recessive disorders most commonly disrupt ______

Answer 22

enzymes

Question 23

Autosomal recessive disorders has a ___ % of being passed down

Answer 23

25

Question 24

autosomal recessive disorders have a ______ expression and are the _________ of the mendelian disorders

Answer 24

homozygous; largest