Quiz 5 study deck Flashcards
What is the purpose of restriction endonucleases
Cleave DNA into more manageable fragments (4-8 nucleotides long)
What pattern are restriction endonucleases usually in
palindrome
What do restriction endonucleases prevent
break down foreign material and dna/viruses so they can’t take over cell
What does methylation prevent in bacteria
prevents cleavage by restriction enzymes
What organism isolated the restriction endonuclease
ECO RI (ecoli ry 13)
G’AATTC
What do you need for PCR
DNA, Oligonucleotide Primer, dNTPs, Polymerase (Taq, Thermos, aquaticus), buffer
(DOD likes Peanut Butter)
Steps to PCR
- Denaturing (heated to 95c)
- Annealing (cooled to 50c)
- Extension (Warmed to 72c)
What is gene flow
movement of genes from one population to the next
What is genetic drift
Random changes in allele frequencies, eased by large populations
What are the 2 types of genetic drift
- Founder effect- new population founded by individuals and have similar genes
- Evolutionary bottlenecks- small sample of population
Autosomal recessive pattern of inheritance
Equal frequency of male and female, skip generations
- Increased with inbreeding
Which pattern of inheritance is increased with inbreeding
autosomal recessive
Autosomal dominant pattern of inheritance
equal frequency in males and females
X-linked recessive patterns
- Males more frequently
- Affected male does not pass trait to son, but passes to daughter.
X-linked dominant
- Does not skip generations, pass traits to all daughters and no sons
Y linked pattern of inheritance
Only appears in males, male infertility.
- Retinitis pigmentosa, abnormal testes.
Examples of autosomal dominant
Huntingtons disease, Marfan’s syndrome, achrondroplasia
Autosomal recessive diseases
cystic fibrosis, tay-sach’s disease, wilson’s syndrome
X-linked recessive diseases
duchanne muscular dystrophy, hemophelia, color blindness
What is variable expressivity
Same genetic mutation can be associated with phenotypic spectrum
Penetrance variable expression
Porportion of individuals with mutant genotype that express the phenotype
Types of penetrance
Complete: All indivdiuals express
Incomplete: only some individuals express it
Most common form of color-blindness
Red-green- x-linked recessive
MuCune albright syndrome
Developmental mutation, sporadic, birth mark pigmentation,
Weakened bones
Missense mutation changes what
the amino acid
Nonsense mutation changes what
Stop codon
Silent mutation changes what
does not change amino acid, changes single nucleotide
What linking are hemophelia
x-linked, recessive
Huntingtion’s disease repeat pattern
-Autosomal dominant, genetic anticipation
Myotonic dystrophy pattern of inheritance
autosomal dominant
Clinical features of myotonic dystrophy
Inability to relax muscles, weakness, atrophy of facial muscles
Haplotype
set of closely linked genetic markers on a chromosome that are inherited together
What are HLA associations
strong genetic associations (leukocyte antigen)
Bamboo spine (ankylosing spondylitis) key facts
-HLA-B27 testing to determine, chronic low backaches
Duchenne-muscular dystrophy inheritance pattern and clinical significance
-X-linked recessive
- No dystrphin gene
