11-12Mod Of Dis

Question 1

Can you define the genetic disorder?

Answer 1

Genetic problem caused by one or more abnormalities formed in the genome

Question 2

Human diseases are classified into three categories, what is it?

Answer 2

1. Genetically determined
2. Entirely environmentally determined
3. Mixture of both

Question 3

What is the definition of Allele?

Answer 3

Allele: a copy of a gene in each chromosome pair

Question 4

What is the types of Allele?

Answer 4

• Homozygous: Having two identical alleles of a particular
gene in both chromosome pair • Heterozygous: Having two different alleles of a particular
gene in each chromosome pair

Question 5

What is a mutation?

Answer 5

A mutation is a permanent change in the DNA.

Question 6

What are the two types of cells where mutations can occur?

Answer 6

Mutations can occur in germ cells or somatic cells.

Question 7

What is the significance of germ cell mutations?

Answer 7

Germ cell mutations are transmitted to the progeny and may give rise to inherited diseases.

Question 8

Are somatic cell mutations passed on to the progeny?

Answer 8

No, somatic cell mutations are not transmitted to the progeny.

Question 9

Why are somatic cell mutations important?

Answer 9

Somatic cell mutations are important in the pathogenesis of cancers and some congenital malformations.

Question 10

What is a point mutation?

Answer 10

A: A point mutation is the substitution of one or a few nucleotides, leading to the replacement of one amino acid by another in the protein product.

Question 11

What happens when a point mutation occurs?

Answer 11

A: Point mutations can disrupt translation, resulting in truncated proteins that are rapidly degraded.

Question 12

What does a silent mutation code for?

Answer 12

It codes for the same amino acid.

Question 13

Does a silent mutation affect the function of the protein?

Answer 13

No, it has no effect on the function of the protein.

Question 14

What is another name for a silent mutation?

Answer 14

It is called a synonymous change.

Question 15

Why is a silent mutation called a synonymous change?

Answer 15

Because 64 codons code for only 22 amino acids.

Question 16

What does a nonsense mutation code for?

Answer 16

It codes for a stop codon.

Question 17

What effect does a stop codon have in a nonsense mutation?

Answer 17

It interrupts the normal code.

Question 18

What happens to an amino acid codon in a nonsense mutation?

Answer 18

It is converted into a termination codon.

Question 19

What is the result of a nonsense mutation on the protein?

Answer 19

It results in a shorter protein.

Question 20

Can a nonsense mutation truncate the protein?

Answer 20

Yes, it can truncate the protein.

Question 21

What does a missense mutation code for?

Answer 21

It codes for a different amino acid.

Question 22

What does a missense mutation do to the genetic code?

Answer 22

It changes the code, creating a different protein.

Question 23

What is another name for a missense mutation?

Answer 23

It is called a non-synonymous change.

Question 24

What are the two types of missense mutations?

Answer 24

Conservative and non-conservative.

Question 25

What is a conservative missense mutation?

Answer 25

It occurs when the new amino acid is similar in function or shape to the amino acid being replaced.