Mutations/genetic Disorders

Question 0

What are the 2 types of mutations

Answer 0

Gene mutations and chromosomal mutations

Question 1

What are mutations

Answer 1

Changes in the genetic sequence that can be good, bad, or have no effect at all

Question 2

What is a gene mutation

Answer 2

Produce changes in a single nucleotide

Question 3

What is a point mutation

Answer 3

Results in changes in one or a few nucleotides

Question 4

What is a substitution

Answer 4

It usually affects a single amino acid

Question 5

What is a deletion or insertion

Answer 5

It usually effects all the amino acids after the mutation

Question 6

What is another name for deletions or insertions

Answer 6

Frames shift mutations

Question 7

What is a chromosomal mutation

Answer 7

It involves the change in the number or structure of chromosomes

Question 8

Deletion

Answer 8

A piece of the chromosome is lost

Question 9

Duplication

Answer 9

Extra parts of a chromosome

Question 10

Inversion

Answer 10

A piece of a chromosome breaks off and reattaches backwards

Question 11

Translocation

Answer 11

A piece of the chromosome breaks off and attaches to another chromosome

Question 12

Nondisjunction

Answer 12

Occurs in meiosis 1 when homologous chromosomes fail to separate. This results in abnormal number of chromosomes. EFFECTS OFFSPRING

Question 13

Polyploidy

Answer 13

Condition that occurs when an organism has extra sets of chromosomes.
Triploid/tetraploid plants are stronger than diploid

Question 14

Dominant human traits

Answer 14

Require only 1 type of the allele to be expressed
Widows peak, hitchhikers thumb, cleft chin
Dominant doesn’t mean it is the most common

Question 15

Dominant autosomal genetic disorders

Answer 15

Achondroplasia, huntingtons disease,hypercholesterolemia

Question 16

Achondroplasia

Answer 16

• Males and females equally likely to inherit
• From of dwarfism that effects the growth of long bones
• Dd-dwarf DD-dwarf dd-normal height
• Most cases are spontaneous mutations

Question 17

Huntingtons disease

Answer 17

• results in progressive loss of muscle control and mental function until death occurs
• symptoms do not appear until age 30-50
• death occurs 10-15 years after symptoms occur

Question 18

Hypercholesterolemia

Answer 18

-condition characterized by higher levels of cholesterol in the blood which can lead to heart disease/clogged arteries

Question 19

Recessive genetic disorders

Answer 19

Require 2 copies to be expressed

Can be carrier and not expressed

Question 20

PKU

Answer 20

• lack the enzyme required to break down phenylalanine, an amino acid found in milk and other things
• this amino acid will accumulate in the brain and lead to mental retardation
• today infants are tested and if positive, they are fed a special diet until the central nervous system is fully developed
• mothers with PKU must eat a diet while pregnant

Question 21

Tay Sachs

Answer 21

• more prominent in Jewish people of central and Eastern European ancestry
• individuals lack the ability to break down gangliosides (lipid) in nervous system
• leads to breakdown of the nervous system
• symptoms appear 3-6months of age
• regression of motor skills, deafness, blindness, seizures
• death usually occurs before age 5

Question 22

Albinism

Answer 22

• caused by a mutation of 1 of several genes that provide the info for melanin production
• results in little to no color(pigment) in the skin, hair, and eyes

Question 23

Food chain

Answer 23

Series of steps that show the transfer of energy from 1 organism to the next

Question 24

Food web

Answer 24

Complex interactions of energy exchange within a ecosystem

Question 25

Ecological pyramid

Answer 25

Energy pyramid shows movement of energy from 1 tropic level to the next Shows how the amount of energy decreases

Question 26

How much energy is transferred from one tropic level and why

Answer 26

Only 10 percent because some energy is lost as heat

Question 27

Biomass pyramid

Answer 27

Shows the amount of living tissue decreases as you move up the pyramid

Question 28

Pyramid of numbers, why

Answer 28

Shows that the number of individuals decreases as you move up the pyramid Not enough energy available

Question 29

Galactosemia

Answer 29

- condition in which the body can't metabolize galactose - if an infant is given milk galactose it will build up in the infants system - it leads to damage in the brain, kidneys, liver, and the eyes - must avoid galactose for life

Question 30

Cystic fibrosis

Answer 30

- more common in people who originated in northern Europe - results in the production of excessive mucus - this interferes with breathing and digestive processes

Question 31

Sickle cell anemia

Answer 31

- affects one out of 500 African-Americans - results from a single point substitution which results in glutamic acid instead of valine in the recipe for hemoglobin - The hemoglobin is not as soluble and often sticks together in long strands - this results in the red blood cell being sickle shaped - these new cells can block bloodflow due to rigidness - results in physical pain and weakness and damage to the brain, heart, and spleen. - and be fatal

Question 32

Why are African-Americans more likely to get sickle cell

Answer 32

- it is more common because heterozygous individuals are resistant to malaria - heterozygous individuals produce normal and abnormal cells - The abnormal cells destroy malaria

Question 33

Multiple allele traits

Answer 33

Blood type

Question 34

Blood type

Answer 34

- A B and O | - results from the presence of certain proteins on the red blood cell called antigens

Question 35

Explain each blood type

Answer 35

- blood type a has anti-b antibodies and antigen A - B has anti-a anti-bodies and antigen b - A B has no anti-bodies but if to much of one type of an antigen, it will attack the other - o has anti-b anti-a antibodies and no antigens