Mutations and Human Genetics

Question 1

Homologous pair has three members

Answer 1

Trisomy

Question 2

Tumor that does not spread to other tissues

Answer 2

Benign

Question 3

Individuals not expressing a genetic trait, but can pass it on to next generation.

Answer 3

Carrier

Question 4

Tumor that can invade other tissue

Answer 4

Malignant

Question 5

Inheritance pattern that is expressed in degrees of variation

Answer 5

Polygenic

Question 6

Mutation affecting a single nucleotide

Answer 6

Point

Question 7

Cancer-causing agent

Answer 7

Carcingeon

Question 8

Single nucleotide is replaced by another

Answer 8

Substitution

Question 9

Gene that can cause cancer

Answer 9

Oncogene

Question 10

mutation affecting body cells

Answer 10

Somatic Cell mutation

Question 11

Mutation affecting gametes

Answer 11

Germ Cell Mutation

Question 12

The presumed source of evolutionary change

Answer 12

Mutations

Question 13

Spreading of cancer beyond the original point

Answer 13

Metastasis

Question 14

Homologous pair of chromosomes fail to divide

Answer 14

Nondisjunction

Question 15

Abnormal growth of cells

Answer 15

Tumor

Question 16

Inheritance pattern for blood types

Answer 16

Multiple Alleles

Question 17

Single nucleotide is added

Answer 17

Insertion

Question 18

Record showing patterns of inheritance through generations

Answer 18

Pedigre

Question 19

Changes in the genetic code occurring during replication

Answer 19

Mutations

Question 20

Germ-Cell Mutation

• 2.

Answer 20

Germ-Cell Mutation: affects the gamets and occurs during meiosis.

• May be passed on to Offspring
• Does not affect the parent individual in which it occurs

Question 21

Somatic-Cell mutation

• 1.
• 2.

Answer 21

Somatic Cell-Mutation: occurs in body cells during meitosis

• Not passed on to offspring but the individual may pass on genetic susceptibility
• Affects the individual in which the mutation occurs.

Question 22

-

Answer 22

Gene Mutations: Change in gene or a series of related genes

• Point Mutations
• Chromosome Mutations

Question 23

Point Mutations

includes ____

Answer 23

Point Mutations: Change in a single nucleotide

includes substitution

Question 24

-

Answer 24

Substitution: one nucleotide in a codon is replaced by a different nucleotide.

• May still code for the same amino acid
• May also code for a different amino acid which can change the shape and function of the protein.

Question 25

Example of Substitution

Answer 25

Sickle Cell Disease

Question 26

Nucleotide Insertion | Nucleotide Deletion

Answer 26

Nucleotide Insertion: a single nucleotide is added to the sequence. Nucleotide Deletion: a single nucleotide is lost.

Question 27

Insertion and Deletion lead to

Answer 27

Frame Shift Mutation: the arrangement of nucleotide sequence into codons is rearranged or nucleotide sequence is regrouped.

Question 28

Chromosome Mutations

Answer 28

Chromosome Mutations: change in the structure of a chromosome involving many genes.

Question 29

Nondisjunction - EX:

Answer 29

Nondisjunction: failure of homologous pairs to separate - Results in one gamete receiving an extra chromosome while the other gamete is missing a chromosome. EX: downsyndrome; trisomy 21

Question 30

- Most mutations are _____ and the______ - Harmful Mutations - Mutations are the source of

Answer 30

- Most mutations are neutral and the change in the genetic code does not lead to a significant change in protein. - Harmful Mutations are mutations that cause dramatic changes in protein structure. - Mutations are the source of evolutionary change.

Question 31

- Irreducible Complexity - Many mutations occur because - Most mutations that have significant altering effects are_ - Beneficial mutations are_

Answer 31

- Irreducible Complexity: all parts to a biochemical process must be present and functioning at all times - Many mutations occur because the genetic design do not cause severe altercations - Most mutations that have significant altering effects are _HARMFUL - Beneficial mutations are_ information reducing not information forming.

Question 32

Tumor - -

Answer 32

Tumor: an abnormal proliferation of cells resulting from uncontrolled + abnormal cell division - Benign: mass of abnormal cells that do not spread; not directly life threatening. - Malignant: uncontrolled dividing cells that invade and destroy healthy tissue

Question 33

Mutations may occur in genes that produce

Answer 33

regulatory proteins that control the events at the cell cycle

Question 34

Oncogenes may be

Answer 34

inherited and could be turned on.

Question 35

Factors than can be Carcingenic - Chemicals: - Radiation:

Answer 35

Chemicals: tobacco products; asbestos; red dye Radiation: x-rays; UV-sun

Question 36

``` The Influential factors for developing cancer -Genetic____________ - - - ```

Answer 36

- Genetic Predisposition - Frequency and intensity of carcinogen - Type of cell affected - Presence of multiple mutations

Question 37

Pedigree Analysis Chart - 1. - 2. - Carrier:_____

Answer 37

Pedigree Analysis/Chart: illustration that shows the relationships between family members in multiple generations 1. Generally follows recessive traits 2. Depicts patterns of inheritance which demonstrates predictability. - Carrier: individual having a single copy of a recessive allele therefore does not express but can pass it on.

Question 38

Human traits are difficult to follow and understand their inheritance 1. 2.

Answer 38

Human traits are difficult to follow and understand their inheritance 1. Many traits are determined by multiple genes. 2. The expression of traits are influenced by environmental factors.

Question 39

Single Gene may have______ and may ________ | -EX:

Answer 39

Single gene may have Multiple Alleles: more than two forms of expression are possible - May express co dominance - EX: Blood types

Question 40

Controlled by more than one gene - 1.Most Human characteristics - 2.Trait is expressed in - 3.Often influenced by - 4.

Answer 40

Controlled by more than one gene: Polygenic traits -1. Most Human characteristics are controlled by more than one gene 2. Trait is expressed in degrees of variation 3. Often influenced by environmental conditions 4.

Question 41

``` Example Polygenic traits - - - - ```

Answer 41

- Hair Color - Eye Color - Skin Color - Height

Question 42

Sex-Linked Traits - Most commonly carried - Most commonly passed on

Answer 42

Sex-Linked Traits: traits carried on the sex chromosomes - Most commonly carried on the X chromosome - Most commonly passed on from mother to son