Mendelian Genetics and Human Pedigrees Flashcards

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1
Q

What are pure breeds?

A

Homozygous

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2
Q

What is the first cross known as?

A

F1 generation

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3
Q

What were Mendels proposals of inheritance (using genetic language)?

A
  • In a diploid individualm genes have two alleles, each on a chromosome of a homologous pair
  • In the pair one allele is dominate, other recessive
  • Two alleles of a single gene separate independently during gamete formation
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4
Q

What is a genotype?

A

Gentic makeup

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5
Q

What is a phenotype?

A

Physical expression

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6
Q

What is homozygous?

A

2 of the same alleles

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7
Q

What is heterozygous?

A

2 different alleles

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8
Q

What is test cross?

A

How to tell if the origal generation is a pure breed or not

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9
Q

What do we test against in test cross?

A

Homologous recessive

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10
Q

What is a dihybrid cross?

A

Two characteristics with two traits. How two independent characters behave.

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11
Q

What are alleles?

A

Different versions of genes

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12
Q

What is product law?

A

Predicts the frequency with which two independent events will occur simultaneously. Combined probabilities.

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13
Q

What do Human Pedigrees show?

A

Mendelian diseases

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14
Q

How are Human Pedigrees arrange?

A
  • Generations in rows
  • Double line = married to someone you’re related to
  • Roman numerals to number generations
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15
Q

What are the different symbols in a Human Pedigree?

A

Males - square. Females - circle.

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16
Q

What was albinism the result of?

A

Mutation in the enzyme involved in the production of melanin. Autosomnal recessive disorder.

17
Q

What are the different types of recessive disorders?

A

X-linked or autosomnal

18
Q

How common are recessive disorders?

A

Rare - low frequency

19
Q

How do you recognise an Autosomnal Recessive Disorder?

A

Appears in the progeny of unaffected parents. Affected progeny includes both females and males.

20
Q

What are some examples of Autosomnal Dominat Disorders?

A

Non-collagenous extracellular matrix protein
Cartilage oligometric matrix protein
Pseudoachondroplasia - dominant allele interfere with growth of long bones

21
Q

How do you recognise a dominant disorder?

A

Affected males and females in each generation

Shows affected men and women transmitting the condition to equal proportions

22
Q

How do you recognise an X-Linked Recessive Disorder?

A

Mainly in the males - females can be carriers