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What are the potential benefits of research using genetic technologies -…
What are the potential benefits of research using genetic technologies
Mutations
Point
types
missense
silent
neutral
frameshift
nonsense
Cause
single nucleotide variation
Germline
Cause
occurs in sexual reproductive cells
passed onto offspring
mutation replicated in every cell
E.g. Cystic Fibrosis
Chromosomal
Cause
somatic
Cause
due to replication prior to mitosis
occurs in non sexual cells
E.g. Cancer
Effect
Change in base sequence
Cause
Accidental
Exposure to high energy electromagnetic radiation
ultaviolent light
x-rays
environmental
Biotechnologies
#
Uses
help society
alleviate hunger
decress stress on organ donor lists
Applications
industrial
medical
artificial cells, organs
agricultural
GMO
disease + drough resistant crops
conservation
species of plant and animals
Future
cure genetic diseases
human cloning
Past
beer and wine fermentation
Alec Jerrey
RFLP
time consuming
labour intensive
Fredrick Sanger
Faster
More efficient
DNA sequence simple to read
Present
rapid progress
PCR
Electrophoresis
DNA Barcoding
DNA sequencing
DNA profiling
Negaitves
ethical and social challenges
scrutiny by press, academic, governemt, public
need human cells
benefits
revolutionised process of
drug manufacturing
diagnosis
treatment
Inheritance patterns
Single-gene Mendelian
autosomal recessive
autosomal dominant
Sex-linked
mutated gene carried on sex chromsomes
XX (Female)
XY (Male)
inheritance pattern differs between gender
Single-Gene non-Mendelian
incomplete dominace
organism produce offspring which expresses a blending of the traits
Pink flowers (red and white flowers)
co-dominant
organisms produce offspring which express both traits
E.g. Roan cows (red bull and white cow)
Multifactorial
Genetic technologies
Genetic engineering
set of techniques used to analyse and manipulate genes
DNA
proteinz are the building blocks
enzymes regulate all chemical processed
triplet of three bases ina row code for an amino acid
whole gene carries code
specific role and function
Deoxyribonucleic Acid
4 bases
Adenine
Thymine
Cytosine
Guanine
process
isolayte section of DNA that codes for a protein
insert into living cells
gow cells
separate and purify protein
DNA sequencing
Electrophoresis
separate segments of DNA according to length
smaller fragments have fewer repeats
travel further along the aragose gel
benefits
rapid detection
nucleotides changes can be detected
tool for development of carrier testing
contribute to deciphering regions of the CFTR gene
uses
family
forensic
evolutionary
DNA profiling
Polymease Chain Reaction
increase the amount of DNA of the sequence
copied DNA is used in
electrophresis
DNA profiling
PCR
Stages
Denaturing
Separates the base pairs
separates into single strand
prepare for primers to be attatched
Annealing
allow short, single stand DNA to bond to end of a target sequence
Elongation
add nucleotides into the 3' ends of the primer
Extends the DNA sequence
automated process
requires small amount of DNA
Restriction Fragment Length Polymorphism
RFLP
DNA barcoding
isolate fragment sof DNA
Population genetic studies
genetic diversity
the total of all genetic characteristics
genetic makeup of a species
gene flow
individuals enter a population
existing individual leave
may result in in allele frequency
Gene pool
all the alleles of all genes oin a breeding poulation
population genetics
study of gene pool of a population
changes over time
lead to evolving species
frequency
calculate dividing the number of times the allele is observed in a population
by the total number of copies of all the alleles at that particular genetic locus in the population
the relative frequency of an allele in a population
Genetic drift
change in genetic frequency
random chance
uses
genetic testing
diagnosis of diseases
finding the probability of future offsping inheriting disease
originally looked at
Family background
Pedigree analysis
genetic variation
causes
mutation
#
Non-infectous diseases
Genetic Disease
Cause
inherited
mutation in one gene or more genes
environmental factors
Effect
decreased mental health
decreased mobility
decreased wellbeing
impact of family financially + mentally
Cystic Fibrosis
Inheritance
autosomal recessive
parent are carrier
1 in 4 chance of have CF
1 in 4 chance of being unaffected
1/2 chance of being a carrier
must have two CF genes
affected has to be homozygous
Cause
#
mutation of the cystic fibrosis transmembrane regulator (CFTR)
mutation in chromosome 7
most commom mutation is the loss of phenylalanine position 508 gene
occurs in 70% of CF sufferes
Effects
changes the protein that regulates the movement of sodium chlorides
Who it affects
more that 10,600 people in the UK
one in 25 people are carriers
Treatment
no cure
drugs / medication
High-frequency chest wall oscillatior
symptoms
build up of mucus
in lungs
digestive system
pancreas
malabsorption
acute pancreitis
respiratory problems
lung infections
inflammation
resiratory failure
pneumonia
bronchitis
high salt concentration in sweat
persistant cough
stunted growth or weight gain
difficult bowel movements
male infertility
detection
newborn screening
benefits
#
provide data for lage scale genomic analysis
improved treatment options
improved life expectancy
sweat test
shows elevation of NaCl