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What are the potential benefits for society of research using genetic…
What are the potential benefits for society of research using genetic technologies?
Inheritance patterns
Single-Gene Mendelian
Autosomal Dominant
affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes and the mutant gene is expressed
Examples
Huntingtons Disease
Sex-Linked
Recessive
male with mutation will always be affected
carrying female will not be affected
Example
Hemophilia
Red-green colourblindness
Dominant
males and females can display the trait or disorder when they only have one copy of the inherited gene
Carried on sex chromosomes
patterns differs between genders
Autosomal Recessive
Examples
Cystic Fibrosis
#
Sickle Cell anemia
trait may skip a generation
affected individual must have two copies of a mutant gene for it to be expressed
Incomplete Dominance
offspring has a blending of the trait
red and white flowers --> pink flowers
Co-dominant
Offspring which expresses both traits
white cow and red bull --> roan cow
Single-Gene non-Mendelian
Mitochondrial
inherited trait coded on mitochondrial genome
Mendel's Law of inheritance
law of dominance and segregation
3:1 Dominant to recessive ratio
Deviating from Mendel's ratio
sex linked
co dominance
incomplete dominance
interpreting
Punnet squares
probability of trait being passed on
Pedigree charts
tracing of trait though generations
Multi factorial causes
environmental factors
Cancer
diabetes
obesity
Genetic Technologies
DNA
Technologies
DNA profiling
PCR
amplify large amounts of DNA
make more copies for DNA profiling
artificial method of replicating DNA
Stages
Denature
separates base pairs
Annealing
DNA bonded to end of target sequence
Elongation
build DNA strands
DNA analysis add comparison
uses
paternity test
inheritance matters
identity in crimnal cases
impact
Criminal justice system
general society
medicine
DNA sequencing
NGS
Electrophoresis
Uses gel agarose
DNA fragments separated by electrophresis
electric field pulls molecule across substrate
Distinguish DNA fragments by size
Analysis
software to compare results
MEGA
Molecular evolutionary Genetics Analysis
BOLD
Basic Local Alignment
BLAST
Barcode of Life Data System
Sanger method
embryo selection
test embryo for genetic diseases
Deoxyribonucleic Acid
made of nucleotide
phosphate group
sugar group
one of the nitrogen bases
Adenine - Thymine
Guanine - Cytosine
Homozygous
identical alleles
TT or bb
Heterozygous
Hybrid
having different alleles
Tt or Bb
46 pairs of chromosomes
23 from each parent
genetic engineering
analysisng and manipulating genes
discovering and managing diseases
technologies
GMO
Recombinant DNA Technology
Cloning
positives
produce human stem cells
cure geetic diseases
Negatives
moral and ethical issues
Dolly the sheep
produced from somatic cells
developed arthritis
died young
population genetic studies
Natural Frequency
one allele makes an organism less or more fit in an environment
gene flow
Movement of a gene into or out of a population
due to movement of individual or their gametes
genetic drift
change in allele frequency due to chance
natural disasters
flood
earthquake
bottleneck effect
allele frequency is reduced
Human Genome Project
Sequencing the DNA of every human genome
improve knowlege of biology and medicine
has determine 3 billion nucleotide's in human genome
Gene Pool
alleles found in a population
Population genetics
study of genetic variation in a population and changes to frequency of alleles within a population
Conservation management
Disease and genetic data
human evolution studies
Modern genetic tools
#
genetic diversity
global spread and each population adapting to its environment
allele frequency
factors for it changing
selective pressures
sexual pressures
mutation
gene flow
genetic drift
Mutations
#
point mutation
cause
change in nucleotide sequences
processes + Effects
Nonsense
change in amino acid to a stop codon
missense
result in amino acid change
Silent
no change in amino acid
no effect on proteins or phenotype
Neutral
Change in a DNA that results in amino acid the same as the original
Frameshift
insertion and deletion of single nucleotide pair
chromosomal mutation
cause
Change in Chromosomal number or stucture
process
Insertion
Deletion
Inversion
Duplication
Somatic Mutation
cellular level
change in DNA sequence that occurs in sexual cells
causes
tobacco use
ultraviolet radiation
aging
Germline Mutation
#
organism level
change in DNA sequence in non sexual cells
Bio technologies
use
Biological material to make tools
application
Industrial
enzyme engineering
nano technology
synthetic biology
Medical
gene therapy
Vito fertilization
DNA Technologies
#
Agricutural
Increase plant yields
disease resistance
Conservation
conserve animals and plant species
benefits
improve living conditions and wellbeing
Gene therapy treat genetic diseases
GM Foods alleviate hunger
Plant banks maintain biodiversity
risks
detrimental to environment, animals, plants
Destructive Purposes
terrorism
decrease natural biodiversity
Past
Beer + wine fermentation
Future
genomics
treatment of genetic diseases
#
synthetic cells and organs
Present
Gene engineering
recombinant DNA
Genetically modified foods
#
Non-infectious disease
Genetic disease
Cause
mutation in one or more genes
Effect
Disrupt the normal function of the body
Cystic Fibrosis
Treatment
medication
Supplements
Antibiotics
CFTR potentiator
Ivacaftor
Tezacaftor
Correctors
ELX-02
Bronchodilators
physical therapy
airway clearance vests
lung transplant
Diet
high in calories, protein, fat
Gene Therapy
#
Symptoms
stuggling for bresath
loss of smell
inflammation
sinus ployps
symptomatic diabetes
malnourishment
restricted growth
chronic resiratory infections
Staphylococcus aureus
Pseudomonas aeruginosa
Chronic cough
Reoccurring pneumonia
Progressive loss of lung function
thick secretion of mucus
lungs
pancreas
gastrointestinal tract
obstructs passages
Cause
mutation of the CFTR protein
interrupts transport of chloride and sodium
Draws fluid into the cells
Dehydrates of the mucus
Produces sticky, thick mucus in lungs
CFTR is responsible for maintaining lubricating layer on epithelial cells
lies in middle of chromosome 7
Classes
1
CFTR production stops early
2
Deformed CFTR fold wrong and gets trapped
3
CFTR on membrace but ion channel cannot open
4
CFTR at memvrance but ion channel is misshaped
channel function is poor
5
CFTR production is decreased
Low functional CFTR
Detection
Sweat test
High concentration of salt in sweat
screening
identify carriers
identify affected
Inheritance
autosomal recessive
3:1 ratio from two carriers
germline mutation
affects
Caucasian
1/3000
African
1/15000
Asian
1/30000
life expectancy is 37 - 44
Effects
decreaed human wellbeing
mental and financial toll on family
decreased life expectancy