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Bio 361 - Molecular Genome and Genomics > Midterm 1 - Notes 4 (Part 4) > Flashcards

Midterm 1 - Notes 4 (Part 4) Flashcards

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1
Q

Where does O2 bind in Hb?

A

To the heme on the Hb chain

- associated with iron

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2
Q

What are Hb chains like in invertebrates and primitive fish? (2)

A
  1. Single chains of globin

2. Has one binding site for O2 and one binding site for iron

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3
Q

What events lead to a more complex vertebrate Hb?

A

Mutations

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4
Q

What are Hb chains like in complex vertebrate Hb?

A

Tetramere of globins

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5
Q

What makes up an adult Hb?

A

2 alpha subunits and 2 beta subunits

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6
Q

How many O2 can bind in an adult Hb?

A

4

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7
Q

What makes up fetal Hb?

A

a alpha subunits and 2 gamma subunits

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8
Q

What does HbF have a higher affinity for compared to adults?

A

O2

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9
Q

Why does HbF have a higher affinity for O2?

A

Because it allows higher levels of O2 from the mother to be transported to high levels of O2 in the fetus

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10
Q

What are the 4 subsequent gene duplications and mutations?

A
  1. Epsilon
  2. Gamma
  3. Beta
  4. Delta
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11
Q

What makes up early HbF development?

A

2 alpha and 2 epsilon

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12
Q

What makes up late HbF development?

A

2 alpha and 2 gamma

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13
Q

What makes up main adult Hb form?

A

2 alpha and 2 beta

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14
Q

What makes up minor adult form of Hb only in primates?

A

2 alpha and 2 delta

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15
Q

What % of HbF is in adults?

A

< 0.6%

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16
Q

When does HbF decrease?

A

Relatively fast after birth

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17
Q

People with HbF higher than 0.8% are considered what?

A

HPFH

18
Q

HPFH

A

High Percentage Fetal Hemoglobin

19
Q

What could happen if you could control/regulate HbF?

A

You might be able to help patients that are unable to produce adult Hb

20
Q

What is beta-thalassemia?

A

It is an autosomal recessive blood disease

- reduced beta, but excessive alpha

21
Q

Anemia

A

Reduced hemoglobin and number of RBC

22
Q

What can happen to people who lack adult Hb?

A

They may have less symptoms if they express high levels of HbF

23
Q

What are 3 types of beta-hemoglobin that are caused by mutations?

A
  1. Beta-thalassemia minor
  2. Beta-thalassemia intermedia
  3. Beta-thalassemia major
24
Q

What kind of mutation is beta-thalassemia minor?

A

Heterozygous for HBB mutation

25
Q

HBB

A

Beta-hemoglobin

26
Q

What kinda of mutation is beta-thalassemia intermedia?

A

Homozygous for HBB mutation

27
Q

What kinda of mutation is beta-thalassemia major?

A

Homozygous for HBB mutation

28
Q

Beta-thalassemia minor (3)

A
  1. Has one normal copy and one mutated copy
  2. Mild anemia (if at all)
  3. Can still produce beta-globin
29
Q

Beta-thalassemia intermedia (2)

A
  1. Both have a mutated version

2. Cant make any beta-globin

30
Q

Beta-thalassemia major (4)

A
  1. Both have a mutated version
  2. Lack of being able to produce adult Hb causes this phenotype
  3. Severe anemia and multiple other problems
    - need regular blood transfusions
  4. Cant produce beta-globin
31
Q

What varies greatly with beta-thalassemia?

A

Severity of its symptoms

  • many factors
  • -> eg) environment
32
Q

Beta-thalassemia patients feel better when expressing what?

A

HbF

33
Q

What did they figure out in the Hb study?

A

How to turn on HbF

34
Q

How did being able to turn on HbF help patients?

A

Developed help for patients lacking HBB expression

35
Q

Why do you need 7,000 samples?

A

To be able to detect genetic linkages

36
Q

Why is Sardinia a good place for the study? (5)

A
  1. The disease is common in the Mediterranean
    - high incidence rate
  2. Isolated population
  3. Historically little migration
  4. Typically founder population
  5. Higher degree of relatedness
  6. High frequency of beta-thalassemia
    - 5%, > 10% carrier
  7. High variation of HbF
    - 0-23.6%
37
Q

Whats considered HPFH?

A

> 0.8%

38
Q

Why was it good to used grandparents from Sardinians? (2)

A
  1. You increase you chances because back then there was little immigration
  2. Had at least one fist degree relative in the study group
39
Q

What type of microarray did they use in the Hb study?

A

Affymetrix

40
Q

What did they do in the Hb study to minor alleles with frequency > 5%?

A

They kicked them out because if you are looking at association then you are running a big risk of having a high mutated phenotype that is not a genetic component

Bio 361 - Molecular Genome and Genomics (35 decks)

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