Lecture 11

Question 1

What cells does Waardenburg syndrome affect

Answer 1

Melanocytes

Question 2

What kind of mutation does waardenburg syndrome cause

Answer 2

Autosomal dominant, sometimes autosomal recessive

Question 3

Geneticists CANNOT conduct

Answer 3

human crosses

Question 4

How to know if a disease has a genetic component

Answer 4

1. The disorder is most likely to run in the family
2. Identical twins share the disease more than fraternal twins
3. The disease does not spread to individuals in the same environment
4. Different populations have different frequencies of it
5. The disease develops at a certain age
6. The human disorder resembles a genetic disorder that’s in animals
7. There is a correlation between a disease and a mutant human gene or chromosomal alteration

Question 5

Identical twins are called

Answer 5

Monozygotic

Question 6

Fraternal twins are called

Answer 6

Dizygotic

Question 7

What is concordance

Answer 7

Precent of the same train in both members of twin pair

Question 8

Propositus AKA proband

Answer 8

First patient to be investigated in a family study

Question 9

Symbol of monozygotic twins

Answer 9

triangle

Question 10

Circle with dot in the middle

Answer 10

Carrier of sex-linked recessive

Question 11

colored circle attached to line

Answer 11

Abortion or still birth

Question 12

Square with arrow pointin

Answer 12

Propositus

Question 13

Four main patterns of a single gene inheritance

Answer 13

1. autosomal recessive
2. autosomal dominant
3. X-linked recessive
4. X-linked dominant

Question 14

Less common types of inheritance

Answer 14

Y-linked
Mitochondrial inheritance

Question 15

If the trait is dominant, assume that an affected individual is

Answer 15

Heterozygous

Question 16

In autosomal recessive AND dominant, the progeny are both

Answer 16

Males and females

Question 17

Autosomal recessive appears in progeny of _____ parents

Answer 17

unaffected

Question 18

In autosomal recessive, when 2 heterozygotes have offspring, ____ percent will be affected

Answer 18

25%

Question 19

Examples of autosomal recessive

Answer 19

Phenylketonuria
cystic fibrosis
albinism

Question 20

Inbreeding increases the chances of

Answer 20

Heterozygous mating and producing affected offspring

Question 21

In autosomal dominant, the disorder appears in _____ generation

Answer 21

every

Question 22

In autosomal dominant, an affected individual will have ____ parents with the condition

Answer 22

1 or both

Question 23

In autosomal dominant, if 2 parents are unaffected, ____ of the children will be affected

Answer 23

None

Question 24

XY males are called

Answer 24

Hemizygous for X-linked genes, only have one copy

Question 25

In X linked recessive,

Answer 25

None of male offspring show the phenotype

Question 26

In X linked, only the ____ are carriers

Answer 26

Daughters

Question 27

In X linked recessive, normal females are assumed to be _____

Answer 27

Homozygous wildtype

Question 28

X-linked dominant, affected males pass on the condition to who?

Answer 28

To all the daughters, but none of the sons

Question 29

In X-linked recessive, more ____ should show the phenotype

Answer 29

Males, not females

Question 30

How is the phenotype shown in X linked recessive

Answer 30

Skips generations

Question 31

in X linked dominant, if a heterozygote females marries an unaffected male, how many offspring will be affected

Answer 31

Half will have condition, half will not

Question 32

What are Y linked conditions

Answer 32

Infertility, hearing impairment, Swyer syndrome (deficiency in sex hormones)

Question 33

For a mitochondrial trait, mutant female x wild type male results in

Answer 33

All mutant progeny

Question 34

For mitochondrial trait, wild type female x mutant male results in

Answer 34

All wild type progeny

Question 35

If most males are affected it is

Answer 35

X linked recessive

Question 36

If it is dominant, one parent has to have

Answer 36

The disorder

Question 37

It is X linked dominant if

Answer 37

Affected males pass on condition to ALL daughters but no sons