L.3 Flashcards

(38 cards)

1
Q

Chr 19 produce which protein

A

Fucosyltransferase

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2
Q

ABO group at which chromosome

A

Chromosome 9

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3
Q

Chromosome 9 produce which protein

A

Glycosytransferase

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4
Q

Which blood type is dominant

A

A. B

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5
Q

Which blood type is recessive

A

O

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6
Q

Alpha gluon in which chromosome

A

16

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7
Q

Beta , gamma, delta glutinous at which Chr

A

11

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8
Q

Gamma glubin appears at which time

A

Before birth and reduce after birth

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9
Q

Adult hemoglobin is ?

A

2alpha , 2 beta

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10
Q

Foetal hemoglobin is

A

2 alpha , 2 gamma

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11
Q

A2 hemoglobin is

A

2 alpha , 2 delta

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12
Q

The free hemoglobin is execreted by

A

Kidney

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13
Q

When you exceed the limit solubility what happen

A

Polymerisation and precipitation
Distortion of RBC lead to RBC lysis

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14
Q

How can we regulate the synthesis of hemoglobin

A

Protease break down alpha chain

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15
Q

Hb gene expression is regulated by ?

A

Restructuring chromatin

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16
Q

What is haemoglobinopathies ? And give example

A

Normal quantities but abnormal sequence ( sickle cell anemia )

17
Q

What is thalassemia

A

Normal sequence but different quantities

18
Q

Sickle cell anemia effect which gene

A

Beta globin gene

19
Q

In sickle cell anemia under low O2 tension what happen

A

Polymerisation, distortions of RBC shape lead to obstruction of small vessels and haemolysis

20
Q

In sickle cell anemia glutamic acid become

21
Q

Thalassemia result in

A

Not enough Hb or abnormal accumulation of globin

22
Q

How many beta globin

A

Two ( one on each 11 Chr )

23
Q

What are the types of beta thalassemia

24
Q

How many alpha globin

A

4 ( 2 on each 16 Chr )

25
What are the types of alpha thalassemia .
Silent carrier , alpha thalassemia traits , HbH disease , major
26
Which types are clinically asymptomatic
Silent Carrie and alpha thalassemia traits
27
HbH disease result in what
Production of HbH ( 4 beta globin )
28
Major alpha thalassemia result in ?
HbBart ( 4 gamma globin )
29
HbBart result in
No oxygen is releasing into tissue fetus dies
30
DNA transcription result in
Pre mRNA
31
DNA slicing result in
mRNA
32
DNA translation
Peptide
33
DNA post translation
Proteins
34
What is mutation
Permanent heritable change in nucleotide of gene or chromosome
35
Mutations described in terms of change in ?
Genomic DNA , DNA coding , protein
36
What are the classification of mutation
Deletion , insertion , substitution, frame shift , dynamic mutation
37
3 functional consequences of mutation mention them ?
Loss of function , gain of function , silent mutation
38
See the table lecture 3