8/25 Genetics Flashcards
What is a n alleles
Different DNA sequences that are found at a locus for example the paternal chromosome vs the maternal chromosome at a given locus
What do we call a locus that has more than one allele Ina population
Polymorphic or a polymorphism
How pairs of chromosomes are there
23
What is the average percent of DNa that encodes protein
About 1.2 % of our three billion base pairs
The actual alleles that. I have are called my
Genotype
How do we know if it is a male by the karyotype
By seeing the presence of a Y chromosome
What determines the genetic reality that we see in an individual
The genotype plus the environment that is the genetic constitution plus the non genetic factors
Why would someone need to go on a phenylalanine free diet
PKU
What is the addition and the multiplication rule of probability
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
What is a copy number variant
Random duplications and deletions of large segments of DNA mean that the number of copies of many genes varies.
How can a person be a better matavilizer of a given drug
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!
What are somatic mutations
Arise in somatic cells
Affect only some cells
Are not transmitted to offspring
What are the Germline mutations
Inherited
Typically affect all he cell I the body
Can be transmitted to offspring
Cancer is highly dependent on what types of mutations
Somatic mutations
Heterchromatic iris are example of…
Somatic mutations
What is a missense mutation
A base pair change that results in a amino acid change but the amino acid does get produced
What is the result of a single codon switch misense mutation from glu to val that changes hemoglobin
Sickle cell
What is the result of sickle cell disease
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
What is a nonsense mutation
They cause the production aid a stop codon and therefore an absence I the product protein
What is beta thalassemia
decrease quantity of beta-goblin therefore anemia
What is a compound heterozygous
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
What is a frame shift mutation
Insert or deletion of a base pair
What is a cause of a splicing error
A splice site mutation thy changes the exams and introns
What is Tay-Sach disease and the genetic cause
Most are the four base pair mutation some are also a splice site mutation
Cause failure to thrive, and wasting away.
Trinucleotide repeat expansions
Repeated sections of DNA that tend to self-replicate and insurt into DNA.
Mobile elements
These are parasitic or viral elements of the genome that are able to insert into the genome randomly
What is a locus
A genes location on a chromosome
What are some common causes of mutations?
radiation; mutagenic chemicals
How does UV radiation cuase problems
Thymine dimers that can be created by UV.
