CHAPTER 2 - part 2

Question 1

Refers to any change in the nucleotide sequence as a result of a failure of the system to revert the change.

Answer 1

Mutation

Question 2

Causes of mutations:

Answer 2

Insertion, deletion, exchanges of nucleotides

Question 3

A type of changes in the DNA that occurs in reproductive cells

Answer 3

Germ-line mutations

Question 4

A type of changes in the DNA that occur in non-reproductive cells

Answer 4

Somatic mutations

Question 5

An eye cancer that begins in the retina - the sensitive lining on the inside of your eye

Answer 5

Retinoblastoma

Question 6

Classes of mutations:

Answer 6

Point mutation, Chromosomal Mutation, Copy number variation

Question 7

Types of mutation under Point Mutation

Answer 7

Substitution, Insertion, Deletion

Question 8

One base is incorrectly added during replication

Answer 8

Substitution

Question 9

Example of substitution

Answer 9

Sickle-cell anemia

Question 10

One or more nucleotides are inserted into replacing DNA

Answer 10

Insertion

Question 11

One or more nucleotides is skipped during replication

Answer 11

Deletion

Question 12

Example of insertion and deletion respectively

Answer 12

One form of beta-thalassemia, Cystic fibrosis

Question 13

Types of mutation under chromosomal mutatiom

Answer 13

Inversion, Deletion, Duplication, Translocation

Question 14

One region of a chromosome is flipped and reinserted

Answer 14

Inversion

Question 15

A region of chromosome is lost

Answer 15

Deletion

Question 16

A region of chromosome is repeated

Answer 16

Duplication

Question 17

A region from one chromosome is aberrantly attached to another chromosome.

Answer 17

Translocation

Question 18

Example of inversion

Answer 18

Opitz-Kaveggia syndrome

Question 19

Example of deletion

Answer 19

Cri du chat syndrome

Question 20

Example of duplication

Answer 20

Some cancers

Question 21

Example of translocation

Answer 21

One form of leukemia

Question 22

Type of mutation under copy number variation

Answer 22

Gene amplification, Expanding trinucleotide repeat

Question 23

The number of tandem copies of a locus is increased

Answer 23

Gene amplification

Question 24

The normal number of repeated trinucleotide sequences is expandaed

Answer 24

Expanding trinucleotide repeat

Question 25

Example of gene amplification

Answer 25

Some breast cancer

Question 26

Expanding trinucleotide repeat

Answer 26

Fragile X syndrome, Huntington’s disease

Question 27

a large, wellorganized, and highly collaborative
international effort that generated the first
sequence of the human genome and that of
several additional well-studied organisms.

Answer 27

Human genome project

Question 28

the project used one particular method for
DNA sequencing, called _________ _____ ___________, but first greatly advanced this
basic method through a series of major
technical innovations

Answer 28

Sanger DNA sequencing

Question 29

Scientific goals of the US Human Genome Project

Answer 29

1. Mapping and Sequencing the Human Genome
2. Model organisms
   3.Informatics: Data Collection and Analysis
3. Ethical, Legal, and Social Considerations
4. Research Training
5. Technology development
6. Technology transfer