L.3 Flashcards

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

A

Valine

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

A

Minor major

24
Q

How many alpha globin

A

4 ( 2 on each 16 Chr )

25
Q

What are the types of alpha thalassemia .

A

Silent carrier , alpha thalassemia traits , HbH disease , major

26
Q

Which types are clinically asymptomatic

A

Silent Carrie and alpha thalassemia traits

27
Q

HbH disease result in what

A

Production of HbH ( 4 beta globin )

28
Q

Major alpha thalassemia result in ?

A

HbBart ( 4 gamma globin )

29
Q

HbBart result in

A

No oxygen is releasing into tissue fetus dies

30
Q

DNA transcription result in

A

Pre mRNA

31
Q

DNA slicing result in

A

mRNA

32
Q

DNA translation

A

Peptide

33
Q

DNA post translation

A

Proteins

34
Q

What is mutation

A

Permanent heritable change in nucleotide of gene or chromosome

35
Q

Mutations described in terms of change in ?

A

Genomic DNA , DNA coding , protein

36
Q

What are the classification of mutation

A

Deletion , insertion , substitution, frame shift , dynamic mutation

37
Q

3 functional consequences of mutation mention them ?

A

Loss of function , gain of function , silent mutation

38
Q

See the table lecture 3

A