Pedigree Stuff

Question 1

This disorder only occurs in individuals who have 2 copies of a mutation…

Answer 1

autosomal recessive

Question 2

What is it called when someone has 2 different mutations (but in the same gene)?

Answer 2

COMPOUND Heterozygous…can be a part of autosomal recessive

Question 3

In autosomal recessive, Heterozygotes (carriers) are not _______.

Answer 3

Clinically Affected

Question 4

What type of inheritance? Sickle cell anemia

Answer 4

Autosomal Recessive

Question 5

What type of inheritance? Cystic Fibrosis

Answer 5

Autosomal Recessive

Question 6

What type of inheritance? Amelogenesis Imperfecta

Answer 6

Autosomal Recessive

Question 7

This factor suggests which type of inheritance: Single generation affected (horizontal transmission)

Answer 7

Autosomal Recessive

Question 8

This factor suggests which type of inheritance: Both males and females affected

Answer 8

Autosomal Recessive

Question 9

This factor suggests which type of inheritance: Consanguinity (parents are related even
if several generations back)

Answer 9

CONSANGUINITY: AUTOSOMAL RECESSIVE

Question 10

This factor suggests which type of inheritance: Parents from isolated area or genetic isolates

Answer 10

Autosomal Recessive

Question 11

This factor suggests which type of inheritance: Only one mutation is required for disorder to be present

Answer 11

Autosomal Dominant

Question 12

This factor suggests which type of inheritance: most individuals only have 1 mutant allele

Answer 12

Autosomal Dominant

Question 13

This factor suggests which type of inheritance: Some _______ disorders have high mutation rates

Answer 13

autosomal dominant

Question 14

What type of disorder? Achondroplasia

Answer 14

Autosomal Dominant

Question 15

What type of disorder? Neurofibromatosis

Answer 15

Autosomal Dominant

Question 16

What type of disorder? Amelogenesis Imperfecta

Answer 16

Autosomal Dominant

Question 17

What type of disorder? Hereditary Gingival Fibromatosis

Answer 17

Autosomal Dominant

Question 18

This factor suggests which type of inheritance: vertical transmission

Answer 18

Autosomal Dominant

Question 19

This factor suggests which type of inheritance: Multiple generations affected (vertical transmission)

Answer 19

Autosomal Dominant

Question 20

This factor suggests which type of inheritance: Both males and females affected

Answer 20

autosomal dominant

Question 21

This factor suggests which type of inheritance: Male to male transmission

Answer 21

autosomal dominant (NO WAY X-LINKED)

Question 22

This factor suggests which type of inheritance: New mutations are common for some disorders!

Answer 22

autosomal dominant

Question 23

What does this describe? The heterozygous phenotype is intermediate compared to the two homozygous states

Answer 23

incomplete dominance

Question 24

What type of inheritance is PENETRANCE related to?

Answer 24

Autosomal Dominant

Question 25

What does this describe? Given that someone has inherited the mutant allele, what is the chance that they will express the phenotype

Answer 25

Penetrance

Question 26

What does this describe? ALSO what type of inheritance are we talkin bout?...Given that a person who has inherited a mutant allele expresses the trait, how severely affected are they?

Answer 26

Variable Expressivity...Autosomal Dominant

Question 27

What two groups are homozygous?

Answer 27

males and turner syndrome females

Question 28

What is this describing? In somatic cells of females, only 1 X chromosome transcriptionally active..

Answer 28

Lyonization

Question 29

Which gender will display the Barr Body?

Answer 29

Females

Question 30

This factor suggests which type of inheritance: Incidence of trait much higher in males than females.

Answer 30

X-linked Recessive

Question 31

This factor suggests which type of inheritance: Heterozygous females are usually unaffected.

Answer 31

X-linked Recessive

Question 32

What type of disorder? Hemophilia A

Answer 32

X-linked Recessive

Question 33

What type of disorder? Duchenne muscular dystrophy

Answer 33

X-linked Recessive

Question 34

This factor suggests which type of inheritance: Usually transmitted by carrier females

Answer 34

X-linked recessive

Question 35

This factor suggests which type of inheritance: Affected males with normal partners have no affected sons and no normal daughters

Answer 35

X-linked Dominant

Question 36

This factor suggests which type of inheritance: Male and female offspring of female carriers have 50% risk of being affected

Answer 36

X-linked Dominant

Question 37

This factor suggests which type of inheritance: For rare phenotypes, affected females are twice as common as affected males, but may have milder phenotype

Answer 37

X-linked Dominant

Question 38

This factor suggests which type of inheritance: May see male lethality

Answer 38

X-linked Dominant

Question 39

What type of disorder? Hypophosphatemic rickets

Answer 39

X-linked Dominant

Question 40

What type of disorder? Incontinentia pigmenti

Answer 40

X-linked Dominant