8/25 Genetics

Question 1

What is a n alleles

Answer 1

Different DNA sequences that are found at a locus for example the paternal chromosome vs the maternal chromosome at a given locus

Question 2

What do we call a locus that has more than one allele Ina population

Answer 2

Polymorphic or a polymorphism

Question 3

How pairs of chromosomes are there

Answer 3

23

Question 4

What is the average percent of DNa that encodes protein

Answer 4

About 1.2 % of our three billion base pairs

Question 5

The actual alleles that. I have are called my

Answer 5

Genotype

Question 6

How do we know if it is a male by the karyotype

Answer 6

By seeing the presence of a Y chromosome

Question 7

What determines the genetic reality that we see in an individual

Answer 7

The genotype plus the environment that is the genetic constitution plus the non genetic factors

Question 8

Why would someone need to go on a phenylalanine free diet

Answer 8

PKU

Question 9

What is the addition and the multiplication rule of probability

Answer 9

If we have an independent set of events then the ‘and’ question is multiplication of the independent probabilities and the ‘or’ question is the addition rule of the independent probabilities

Question 10

What is a copy number variant

Answer 10

Random duplications and deletions of large segments of DNA mean that the number of copies of many genes varies.

Question 11

How can a person be a better matavilizer of a given drug

Answer 11

They could have a copy number variation that could make it so that hey have more copies of a given gene and more enzymes to handle a drug!

Question 12

What are somatic mutations

Answer 12

Arise in somatic cells
Affect only some cells
Are not transmitted to offspring

Question 13

What are the Germline mutations

Answer 13

Inherited
Typically affect all he cell I the body
Can be transmitted to offspring

Question 14

Cancer is highly dependent on what types of mutations

Answer 14

Somatic mutations

Question 15

Heterchromatic iris are example of…

Answer 15

Somatic mutations

Question 16

What is a missense mutation

Answer 16

A base pair change that results in a amino acid change but the amino acid does get produced

Question 17

What is the result of a single codon switch misense mutation from glu to val that changes hemoglobin

Answer 17

Sickle cell

Question 18

What is the result of sickle cell disease

Answer 18

Caplilay block
Infarcts in he bone spleen and lungs
Immune system compromise 
Anemia due to the premature destruction of blood vessels
Dactylitis or red and swollen fingers
Needs more

Question 19

What is a nonsense mutation

Answer 19

They cause the production aid a stop codon and therefore an absence I the product protein

Question 20

What is beta thalassemia

Answer 20

decrease quantity of beta-goblin therefore anemia

Question 21

What is a compound heterozygous

Answer 21

Two mutations at the same gene that have the same result on he fern as having the same mutation on he gene in both the pat and mat genes

Question 22

What is a frame shift mutation

Answer 22

Insert or deletion of a base pair

Question 23

What is a cause of a splicing error

Answer 23

A splice site mutation thy changes the exams and introns

Question 24

What is Tay-Sach disease and the genetic cause

Answer 24

Most are the four base pair mutation some are also a splice site mutation
Cause failure to thrive, and wasting away.

Question 25

Trinucleotide repeat expansions

Answer 25

Repeated sections of DNA that tend to self-replicate and insurt into DNA.

Question 26

Mobile elements

Answer 26

These are parasitic or viral elements of the genome that are able to insert into the genome randomly

Question 27

What is a locus

Answer 27

A genes location on a chromosome

Question 28

What are some common causes of mutations?

Answer 28

radiation; mutagenic chemicals

Question 29

How does UV radiation cuase problems

Answer 29

Thymine dimers that can be created by UV.