11 - Single Gene Inheritance Flashcards

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1
Q

What is Mendelian Inheritance?

A
  • each parent has 2 alleles for each character
  • There are dominant and recessive alleles
  • combination of dominant and recessive alleles makes the phenotype
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2
Q

Explain Mendel’s pea experiment

A
  • crossed pure yellow and pure green peas
  • the crossed the F1 generation
  • F2 generation 3/4 yellow, 1/4 green - 1:2:1ratio
  • yellow is dominant
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3
Q

How would you determine an unknown genotype?

A

test cross

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4
Q

How would you carry out a test cross?

A
  • unknown genotype crossed with a homozygous recessive genotype
  • if F1 is 1:1 then unknown must be heterozygous
  • if F1 is all one trait, unknown must be homozygous dominant
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5
Q

what organisms can mendelian inheritance occur in?

A

diploid organisms with 2 copies of a gene

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6
Q

Name 4 different modes of single gene inheritance

A
  • autosomal dominant
  • autosomal recessive
  • sex-linked dominant
  • sex-linked recessive
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7
Q

What are pedigrees?

A

family trees that have information about disease

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8
Q

How do you identify a male on a pedigree?

A

a square

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9
Q

How do you identify a female on a pedigree?

A

a circle

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10
Q

How do you determine affected individuals in a pedigree?

A

filled in shapes

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11
Q

how do you determine individuals heterozygous in autosomal recessive?

A

half filled in

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12
Q

How do you determine a carrier of sex linked recessive?

A

a dot in the shape

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13
Q

How can you tell if someone is dead in a pedigree?

A

line through the shape

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14
Q

What are signs of autosomal dominant?

A
  • all generations affected
  • both sexes affected
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15
Q

Give an example of an autosomal dominant condition

A

Marfan syndrome
- issue with all fibrous connective tissue
- Caused by defects in fibrin gene in chromosome 15

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16
Q

are mendelian ratios observed in families?

A

No

17
Q

Give an example of an autosomal recessive condition

A

Phenylketonuria (PKU)
- can’t metabolise phenylalanine
- caused by a defect in the phenylalanine hydroxylate gene on chromosome 12

18
Q

What are signs of an autosomal recessive condition?

A
  • most generations unaffected
  • affects siblings of both sexes
  • parents must be heterozygous and unaffected
19
Q

What are signs of an X-linked dominant condition?

A
  • disease in all generations
  • affected fathers would pass it on to daughters only
  • affected mothers would pass it onto both daughters and sons
20
Q

What is an example of an X-linked recessive condition?

A

Heamophilia A
- difficulty forming blood clots
- defect in factor VIII gene on X chromosome

21
Q

What are signs of an X-linked recessive condition?

A
  • jumps a generation
  • mostly males affected
  • females can be heterozygous carriers
22
Q

How do you determine the probabilities of an offspring genotype?

A
  • find probability of gamete
  • if single gene that will be 1/2
  • multiply the probabilities of gametes to get probabilities of offspring
23
Q

How would you write that two genes are linked?

A

by using a slash:
ex AB/ab

24
Q

How would you write that two genes are unlinked?

A

using a semi-colon:
ex A/a ; B/b

25
Q

How would you write that two genes have unknown linkage?

A

with a dot
ex A/a . B/b