Mendelian Inheritance

Question 1

What are the mechanisms of inheritance?

Answer 1

Pedigrees

Question 2

In a pedigree what does the circle represent?

Answer 2

Female

Question 3

In a pedigree what does the square represent?

Answer 3

Male

Question 4

In a pedigree what does the diamond represent?

Answer 4

Unknown sex

Question 5

In a pedigree what does a filled in shape represent?

Answer 5

Affected individual

Question 6

In a pedigree what does a 1/2 filled in shape represent?

Answer 6

Heterozygous individual

Question 7

In a pedigree what does the small circle represent?

Answer 7

Spontaneous abortion

Question 8

In a pedigree what does a shape with a line through it represent?

Answer 8

Deceased

Question 9

In a pedigree what does a line between a circle and a square represent?

Answer 9

Mating

Question 10

In a pedigree what does 2 lines between a circle and a square represent?

Answer 10

Consanguineous mating

Question 11

In a pedigree what does a point with 2 lines coming from it represent?

Answer 11

Dizygotic twins

Question 12

In a pedigree what does a line going to a point with 2 lines coming from it represent?

Answer 12

Monozygotic twins

Question 13

In a pedigree what does a filled in shape represent?

Answer 13

Affected individual

Question 14

In a pedigree what do roman numerals designate?

Answer 14

Generation number

Question 15

In a pedigree what do arabic numerals designate?

Answer 15

Individuals within generations

Question 16

In a pedigree what do arabic numerals designate?

Answer 16

Individuals within generations

Question 17

In human genetics which sex is drawn first?

Answer 17

Male

Question 18

In human genetics which sex is drawn first?

Answer 18

Male

Question 19

What is autosomal dominant/

Answer 19

Only 1 copy of a gene is needed to influence expression

Question 20

What is phenotype?

Answer 20

Physical presentation

Question 21

What is genotype?

Answer 21

Specific allele or DNA variation

Question 22

What is autosomal dominant?

Answer 22

Only 1 copy of a gene is needed to influence expression

Question 23

What is genotype?

Answer 23

Specific allele or DNA variation

Question 24

What is a punnet square?

Answer 24

Shows combinations of alleles from the fertilization of an egg with a sperm in a square

Question 25

What are the rules of autosomal dominant?

Answer 25

* Affected offspring have at least 1 affected parent * Unaffected individuals don't transmit the trait * Both males & females can transmit the trait to both males & females * The trait is expected in every generation at roughly 50%

Question 26

What is autosomal recessive?

Answer 26

2 copies of a gene is needed to influence expression

Question 27

What is autosomal recessive?

Answer 27

2 copies of a gene is needed to influence expression

Question 28

What are the rules of autosomal dominant?

Answer 28

* Most affected individuals have normal parents * Average 1:4 siblings affected * Both males & females may be affected * Affected individuals who mate with normal individuals tend to have normal offspring * If trait is rare, it is more likely to occur in consanguineous mating

Question 29

What are the rules of autosomal dominant?

Answer 29

* Most affected individuals have normal parents * Average 1:4 siblings affected * Both males & females may be affected * Affected individuals who mate with normal individuals tend to have normal offspring * If trait is rare, it is more likely to occur in consanguineous mating

Question 30

What are the rules of autosomal dominant?

Answer 30

* Most affected individuals have normal parents * Average 1:4 siblings affected * Both males & females may be affected * Affected individuals who mate with normal individuals tend to have normal offspring * If trait is rare, it is more likely to occur in consanguineous mating

Question 31

What are the rules of X-linked recessive

Answer 31

* Unaffected males don't transmit the trait * Female carriers transmit affected allele to 50% of sons & daughters * All daughters of affected males are heterozygous carriers

Question 32

What are the rules of X-linked recessive?

Answer 32

* Unaffected males don't transmit the trait * Female carriers transmit affected allele to 50% of sons & daughters * All daughters of affected males are heterozygous carriers

Question 33

What are the rules of X-linked dominant?

Answer 33

* No carriers * Both males & females affected * Females transmit the trait to 50% of males & females * Males transmit the trait to no sons & 100% daughters

Question 34

What are the different pedigree types of Mendelian inheritance?

Answer 34

* Autosomal dominant * Autosomal recessive * X-linked recessive * X-linked dominant

Question 35

What are the different pedigree types of Mendelian inheritance?

Answer 35

* Autosomal dominant * Autosomal recessive * X-linked recessive * X-linked dominant

Question 36

What is penetrance?

Answer 36

Frequency with which a gene manifests itself in a population

Question 37

In a pedigree what does a lightly shaded shape represent?

Answer 37

An individual with the genotype but not the phenotype

Question 38

In a pedigree what does a lightly shaded shape represent?

Answer 38

An individual with the genotype but not the phenotype

Question 39

What is expressivity?

Answer 39

Term used to describe the range of phenotypes associated with a specific genotype