Topic4 Mutations&gene Disorders

Question 1

Mutations

Answer 1

Result in no protein being produced or a faulty protein being expressed

Question 2

Genetic disorder

Answer 2

Cause by changes to a gene or structure of a chromosome

Question 3

Single gene mutation

Answer 3

Substitution
Insertion
Deletion

Question 4

Insertion and deletion

Answer 4

Cause frame shift mutations

Question 5

Mutations can be observed through

Answer 5

Alteration in the structure/function of a protein, resulting in adverse effects for individuals health

Eg huntingtons, cystic fibrosis

Question 6

Single nucleotide substitution include

Answer 6

Nonsense
Missense
Splice site mutation

Question 7

Splice site mutation

Answer 7

Creating/destroying the codons for intron/exon splicing

Question 8

Nonsense

Answer 8

replacing an amino acid with a premature stop codon

Question 9

Missense

Answer 9

Replacing one amino acid with another

Question 10

Chromosome mutation

Answer 10

Translocation
Duplication
Deletion

Often result in substation changes and are often fatal/lethal

Question 11

Translocation

Answer 11

The rearrangement of chromosomal material involves 2 or more chromosome

Eg downsyndrome, lucemia

Question 12

Duplication

Answer 12

Repeat of a segment or chromosome

Question 13

Deletion

Answer 13

Loss of a segment of chromosome

Eg cri du chat syndrome

Question 14

Proteins help in shape by

Answer 14

Peptide bonds
Hydrogen bonds
Interactions between amino acids

Question 15

Proteins have a variety of

Answer 15

Different functions resulting from their different structures

Question 16

Polypeptides fold

Answer 16

To create a 3D structure

Question 17

Organisms phenotype determined by

Answer 17

The proteins produced as a result of genes being expressed

Question 18

Expressed genes influenced by

Answer 18

Intra and extra cellular environmental factors

Question 19

Amino acids

Answer 19

Linked by peptide bonds to form a polypeptide chain

Question 20

Amino acids are linked by peptide bonds

Answer 20

To form polypeptides