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BS3031 Human Genetics > Human genetic variation > Flashcards

Human genetic variation Flashcards

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1
Q

What are the applications for human genetics?

A 
Academic
Human history
Individual advice
Social policy
Resources
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2
Q

What are the limitations of human genetics?

A

No experimental manipulation
No controlled matings
Long generation time
Requires specialist approaches

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3
Q

What is meant by ‘individual advice’ regarding human genetics?

A 
Identification
Parentage
Genetic counselling
Antenatal diagnosis
Disease liability
Cancer prognosis
Therapy
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4
Q

What is meant by ‘social policy’ regarding human genetics?

A 
Health care
Abortion
Genetic manipulation
Legal medicine
Genetic privacy
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5
Q

What types of resources are there for human genetics?

A

Human mutants
Clinical samples, e.g. tumours
Pedigrees
Historical perspective

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6
Q

What was the first human genetic polymorphism discovered?

A

The ABO blood group

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7
Q

Who discovered the ABO blood group system?

A

Karl Landsteiner

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8
Q

In the ABO blood group system, what are the dominant and recessive alleles?

A

A and B are co-dominant

O is recessive

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9
Q

In the ABO blood group system, which region has the highest average frequency of the A allele?

A

Europe

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10
Q

In the ABO blood group system, which region has the lowest average frequency of the A allele?

A

South America

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11
Q

In the ABO blood group system, which region has the highest average frequency of the B allele?

A

India

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12
Q

In the ABO blood group system, which region has the lowest average frequency of the B allele?

A

South America

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13
Q

In the ABO blood group system, which region has the highest average frequency of the O allele?

A

South America

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14
Q

In the ABO blood group system, which region has the lowest average frequency of the O allele?

A

East Asia

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15
Q

What are ABO antigens?

A

Carbohydrates on red blood cell glycoproteins, known as glycosphingolipids

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16
Q

What ABO antigen does the A allele produce?

A

N acetylgalactosamine

17
Q

What ABO antigen does the B allele produce?

A

Galactose

18
Q

What ABO antigen does the O allele produce?

A

No addition, i.e. it is a ‘null’ allele

19
Q

What does the ABO locus encode?

A

Glycosyltransferase

20
Q

What do both the Secretor and Lewis loci in the ABO blood group system encode?

A

Fucosyltransferases

21
Q

What is the Rh blood group an important example of?

A

‘Preventative genetics’

22
Q

What are the limitations of human genetics?

A

No experimental manipulation
No controlled matings
Long generation time
Requires specialised approaches

23
Q

Give examples of types of human genetic variation

A

Blood groups
Protein polymorphisms
DNA polymorphisms

24
Q

What defines a polymorphic locus?

A

When the frequency of most common allele is 0.02

25
Q

For a 2-allele locus, what is the maximum value for H at p=q=0.5?

A

H = 2pq = 0.5

26
Q

Define electrophoretic protein polymorphisms

A

Charge variation in erythrocyte and serum proteins

27
Q

How can electrophoretic protein polymorphisms be detected?

A

Using simple, cheap tests

28
Q

Who discovered electrophoretic protein polymorphisms in the 1960s?

A

Harry Harris

29
Q

How many blood proteins are there? And how many of these are monomorphic and polymorphic?

A

104 blood proteins:
71 monomorphic
33 polymorphic (2-3 co-dominant alleles)

BS3031 Human Genetics (2 decks)

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