Genetics 1

Question 1

Describe how MODY canbe identiffied and benefits / consequences of identifying it

Answer 1

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Question 2

State the different syndromic mitochondrial diabetes you can get

Answer 2

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Question 3

What is the human karyotype. Explain how it may be studied.

Answer 3

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Question 4

what risk factor does downs usually have a strong association with

Answer 4

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Question 5

Define the following: Mendelian Inheritance, Allele, Homologous Chromosomes

Answer 5

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Question 6

Explain the following terms: Incomplete Penetrance, Variable Expressivity, Phenocopy, Epistasis

Answer 6

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Question 7

Explain the importance of the parental origin of chromosomes

Answer 7

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Question 8

1)Compare the symptoms, prevalence , management and diagnosis of two mitochondrial disorders Compare the genetics involved in two mitochondrial disorders

Answer 8

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Question 9

Describe the clinical presentation of phenylketonuria, and explain its pathogenesis

Answer 9

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Question 10

4 aims all linked

Describe the Aims of Prenatal Testing

Answer 10

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