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Bio > Mutations > Flashcards

Mutations Flashcards

1
Q

What is the effect of substitution mutation?

A

1 silent mutation —-no change in protein due to redundancy in the genetic code
2 missense mutation —— alteration in amino acid sequence of a protein
3 nonsense mutation _____introduction of underdeveloped stop codon

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2
Q

What is the impact of insertion mutation?

A

Causes a frameshift mutation altering the entire downstream reading frame often resulting in non-functional protein

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3
Q

What is the effect of deletion mutation?

A

Like insertion deletion also typically causes a frameshift mutation on this it cures in multiples of three nucleotide

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4
Q

What are neutral mutations?

A

Neutral mutations are mutations that have no observable effect.

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5
Q

Why do many mutations have no observable effect?

A

Many mutations have no observable effect due to redundancy in the genetic code, occurrence in non-coding regions, or lack of significant structural or functional change in the resulting protein.

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6
Q

What is a silent mutation?

A

A silent mutation is a type of mutation that does not change the resulting protein due to redundancy in the genetic code.

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7
Q

What are non-coding regions?

A

Non-coding regions are parts of the DNA, such as introns or regulatory DNA, that do not impact gene expression.

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8
Q

What is Sickle Cell Anaemia?

A

Sickle Cell Anaemia is a genetic disorder caused by a substitution mutation in the gene that codes for the ß-globin chain of haemoglobin (HBB gene).

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9
Q

What type of mutation causes Sickle Cell Anaemia?

A

A single base substitution occurs in the HBB gene on chromosome 11.

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10
Q

What change occurs in the HBB gene that leads to Sickle Cell Anaemia?

A

The codon GAG (glutamic acid) changes to GTG (valine), resulting in the production of abnormal haemoglobin called haemoglobin S (HbS).

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11
Q

How does HbS differ from normal haemoglobin?

A

HbS molecules are less soluble than HbA and tend to stick together under low oxygen conditions.

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12
Q

What is the effect of HbS on red blood cells?

A

HbS causes haemoglobin to polymerize, distorting red blood cells into a characteristic sickle shape.

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13
Q

What are the consequences of sickle-shaped red blood cells?

A

Sickle-shaped cells are less flexible, leading to blockages in small blood vessels (vaso-occlusion) and have a shorter lifespan (10-20 days vs. 120 days for normal RBCs), leading to anaemia.

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14
Q

What are common symptoms of Sickle Cell Anaemia?

A

Common symptoms include fatigue and weakness (due to anaemia) and pain crises (caused by blocked blood flow).

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15
Q

What causes cystic fibrosis?

A

A recessive mutation in the CFTR gene.

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16
Q

What does CFTR stand for?

A

Cystic Fibrosis Transmembrane Conductance Regulator.

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17
Q

What is the main effect of cystic fibrosis on mucus production?

A

Leads to the production of thick, sticky mucus.

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18
Q

What body systems are affected by cystic fibrosis?

A

Gaseous exchange, digestive, and reproductive systems.

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19
Q

What is the probability of producing a child with cystic fibrosis if both parents are carriers?

A

25% chance.

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20
Q

What is the probability of producing a child with cystic fibrosis if only one parent is a carrier?

A

0% chance.

21
Q

How does healthy CFTR function in the lungs?

A

Regulates the movement of chloride ions, creating an osmotic gradient that keeps mucus thin.

22
Q

What effect does mutated CFTR protein have on the lungs?

A

Impaired chloride ion transport leads to thick, sticky mucus.

23
Q

What are the consequences of thick mucus in the lungs due to cystic fibrosis?

A

Blocks airways, inhibits ciliary action, leads to chronic lung infections and difficulty breathing.

24
Q

What can chronic lung infections from cystic fibrosis lead to over time?

A

Respiratory failure.

25
Q

How does healthy CFTR function in the digestive system?

A

Regulates movement of chloride ions and water, ensuring digestive enzymes are secreted into the small intestine.

26
Q

Fill in the blank: Cystic fibrosis is a genetic disorder caused by a _______.

A

recessive allele.

27
Q

What role does CFTR play in the pancreas?

A

CFTR helps ensure that digestive enzymes are secreted into the small intestine

28
Q

What effect does defective CFTR have in Cystic Fibrosis?

A

Thick mucus blocks the ducts of the pancreas, preventing digestive enzymes from reaching the small intestine

29
Q

What is a consequence of the blockage of digestive enzymes in Cystic Fibrosis?

A

Malabsorption of nutrients, leading to poor growth and malnutrition

30
Q

What is steatorrhea?

A

Fatty stools due to undigested fats

31
Q

What long-term effects can chronic malnutrition have in individuals with Cystic Fibrosis?

A

Poor bone health and weight loss

32
Q

What is the role of CFTR in the reproductive system?

A

CFTR is involved in the secretion of fluids in male and female reproductive organs

33
Q

How does CFTR function in males?

A

CFTR helps with the production of seminal fluid

34
Q

How does CFTR function in females?

A

CFTR aids in the production of cervical mucus

35
Q

What is a common cause of male infertility in individuals with Cystic Fibrosis?

A

Bilateral absence of the vas deferens

36
Q

What effect does thick mucus have on the vas deferens in males with CF?

A

It obstructs the vas deferens, preventing sperm from reaching the semen

37
Q

Do women with Cystic Fibrosis retain the ability to conceive?

A

Yes, but they may experience fertility issues

38
Q

What challenge does thick mucus pose for women with Cystic Fibrosis regarding fertility?

A

It can make it more difficult for sperm to reach the egg

39
Q

What is the role of the CFTR protein?

A

The CFTR protein is a chloride ion channel located in the cell membrane.

40
Q

How does the CFTR protein affect ion transport?

A

It allows chloride ions to move out of the cell.

41
Q

What is the effect of chloride ion movement on water?

A

The movement of chloride ions creates an osmotic gradient, causing water to follow.

42
Q

How does CFTR function maintain mucus consistency?

A

This maintains the balance of water in mucus, keeping it thin and mobile, which aids in proper mucus clearance from the lungs and other organs.

43
Q

What happens when the CFTR protein is mutated?

A

A mutation in the CFTR gene results in a malfunctioning or absent CFTR protein.

44
Q

What is the consequence of disrupted ion transport due to mutated CFTR?

A

The chloride ions cannot move out of the cell properly, or the CFTR protein is unable to function correctly.

45
Q

What is the impact of impaired chloride ion movement on mucus?

A

Without chloride ion movement, water is not drawn out, leading to thick, sticky mucus.

46
Q

What complications arise from thick mucus caused by mutated CFTR?

A

The thick mucus clogs airways in the lungs, impairing gas exchange and causing breathing difficulties. It also blocks ducts in the pancreas, leading to malabsorption of nutrients.

47
Q

What is the key function of healthy CFTR?

A

Regulates chloride and water transport, maintaining normal mucus consistency.

48
Q

What are the consequences of mutated CFTR?

A

Leads to impaired chloride ion transport, resulting in thick, sticky mucus and related complications.

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