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Hematological Genetics > Mendelian Inheritance > Flashcards

Mendelian Inheritance Flashcards

1
Q

What are the mechanisms of inheritance?

A

Pedigrees

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2
Q

In a pedigree what does the circle represent?

A

Female

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3
Q

In a pedigree what does the square represent?

A

Male

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4
Q

In a pedigree what does the diamond represent?

A

Unknown sex

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5
Q

In a pedigree what does a filled in shape represent?

A

Affected individual

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6
Q

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

A

Heterozygous individual

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7
Q

In a pedigree what does the small circle represent?

A

Spontaneous abortion

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8
Q

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

A

Deceased

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9
Q

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

A

Mating

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10
Q

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

A

Consanguineous mating

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11
Q

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

A

Dizygotic twins

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12
Q

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

A

Monozygotic twins

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13
Q

In a pedigree what does a filled in shape represent?

A

Affected individual

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14
Q

In a pedigree what do roman numerals designate?

A

Generation number

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15
Q

In a pedigree what do arabic numerals designate?

A

Individuals within generations

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16
Q

In a pedigree what do arabic numerals designate?

A

Individuals within generations

17
Q

In human genetics which sex is drawn first?

A

Male

18
Q

In human genetics which sex is drawn first?

A

Male

19
Q

What is autosomal dominant/

A

Only 1 copy of a gene is needed to influence expression

20
Q

What is phenotype?

A

Physical presentation

21
Q

What is genotype?

A

Specific allele or DNA variation

22
Q

What is autosomal dominant?

A

Only 1 copy of a gene is needed to influence expression

23
Q

What is genotype?

A

Specific allele or DNA variation

24
Q

What is a punnet square?

A

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

25
Q

What are the rules of autosomal dominant?

A
  • 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%
26
Q

What is autosomal recessive?

A

2 copies of a gene is needed to influence expression

27
Q

What is autosomal recessive?

A

2 copies of a gene is needed to influence expression

28
Q

What are the rules of autosomal dominant?

A
  • 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
29
Q

What are the rules of autosomal dominant?

A
  • 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
30
Q

What are the rules of autosomal dominant?

A
  • 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
31
Q

What are the rules of X-linked recessive

A
  • 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
32
Q

What are the rules of X-linked recessive?

A
  • 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
33
Q

What are the rules of X-linked dominant?

A
  • No carriers
  • Both males & females affected
  • Females transmit the trait to 50% of males & females
  • Males transmit the trait to no sons & 100% daughters
34
Q

What are the different pedigree types of Mendelian inheritance?

A
  • Autosomal dominant
  • Autosomal recessive
  • X-linked recessive
  • X-linked dominant
35
Q

What are the different pedigree types of Mendelian inheritance?

A
  • Autosomal dominant
  • Autosomal recessive
  • X-linked recessive
  • X-linked dominant
36
Q

What is penetrance?

A

Frequency with which a gene manifests itself in a population

37
Q

In a pedigree what does a lightly shaded shape represent?

A

An individual with the genotype but not the phenotype

38
Q

In a pedigree what does a lightly shaded shape represent?

A

An individual with the genotype but not the phenotype

39
Q

What is expressivity?

A

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

Hematological Genetics (8 decks)

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