Applications of reproductoin and genetics

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What are 2 of the main aims of the human genome project
determine the sequence of the 4 bases A,T,G and c throughout all th ehuman dna, identify all the genes formed by the bases
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name the other 3
fidn the locatoin of the genes on the 23 human chromasomes, store this informatoin on databases, consider al ethichal, social and legal issues which arise from obtaining info about the human genome
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what does this infomartion enable scientists to do
know exactly which sections of DNA on which chromasomes are responsible for th emany inherited diseases
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How does this process take place
A dna sample is obtained
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What is the dna scanned for
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define the term gene probe
short piece of DNA the sequences of which are complementry to the mutated sequence
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what happens if the mutated sequence is present
the proble will bind to it and 'flag' the mutation
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describe another method of dna testing
comparing the sequence of dna bases on a normal gene to the patients version
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On the next few cards are 8 exmaples of the maine uses of genetic testing
Carrier screening, involving identifiactoin of unaffecte dindividuals who carry the recissive gene for a disease that requires homozygous recessive
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pre implantation genetic diagnosis
pre natal diagnostic testing
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newborn baby screening
pre sympotomatic testinf for predicting adult onset disorders ie huntingtons
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pre sympotomatic testing of estimaing risk of development of an adult onset order eg alzheimers
confomration that an individla has a suspected disease
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forensic/identtiy testing
How many did you get!
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how can risks of some diseases be reduced
changeing lifestyle ie smoking
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what is one of the most serious limitatins of suseptablility tests
difficulty in interpreting positive reult-some who carry the disease associate dmuattoin never develop the disease
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What is alimitation os all medical testing
the possibility for aborotory errors
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what might these be due to
misidentification, contamination of the chemicals used for tesitng
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what are concerns baout use of gene testing
provke anxity, discrimination , social stigmitisation
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Name 2 social conerns
who should have acsess to personal genetic infprmation , and how will it be used? who owns and controls the genetic information
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name another 2
should parents have the right to have their chldren tested for adult onset diseases? is there a danger of one day producing human clones
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what is the maine problem with gene therapy
developing a gene delivery system
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what does this mean?
inserting normal verisons of genes into a person and ensureing once there they function correctly
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in gene therapy what introduced the DNA
a vector / carrier
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what do the majority of procedures use as vectors
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where do theydeliver the selected gene to
target cells
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what are the otrher menthosds
using liposomes, injection of naked plasma dna
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Hoe many ways are ther of replacing defective genes
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what does gene therapy involve
somatic cell therapy
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where are the targeted cells
in the effecte dtissues
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this method is theraputic, but the genetic changes are not ___________
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Which methode involved the intorductoin of corrective geens nto germ line cells
germ line thereapy
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What does this mean
the gene is replaced in the egg, ergo genetic correctins wil be inherited
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define the term liposome
minut spheres of lipid molocules
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what is cystic fibrosis due to
defective autosomal recessive allele
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what do sufferes produce
a thick sticky mucus form epithelial cells lining certian passageways.
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What problems does this caus ein the pancreatic duct
it becomes blocked so pancreatic enzymes do not reach the duodemum, so food digestin is incomplete
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What problems does ti cause in the brochinoles and alveoli
they become clogged causing difficulty in breathing, mucus is difficult to remove causing reccoring infecitons
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what is needed to relive distress while breathing
daily chest physiotherapy massage
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wha is the funciotn of htis
keeps the airways open
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How do chuldren compensate for the imapred digeston
large appitites
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how can CF cariers be identified
blood test
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what is the missing protienin the cell memebrane
cystic fibrosis transmembrane regulator
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what does cftr transport out of cells
chloride ions
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where does it transport it to
into mucus
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what then follows out of the cell
sodium ions
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what then happens
water asse sout by osmosis
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what result does this have on the mucis
makes it watery consistency
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how many amino acids does the protein in a cystic fibrosis sufferer lack
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in the gene therapy technique, what are genes inserted into
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what does htis onvole
wrapping the gene in lipid molecules
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What is the reason for this
Enables it to pass thorugh the membranes of the lungs epitherlail cells
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how is the non defectiv egene added to the lungs epitherlia cells
aerosol inhalor
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what do the liposomes fuse with
the phospholipid bilayer of the cell memebrane
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what then happens
the dna enters the cells
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how do these cells start expessing th einserted gene
by making the protien cftr
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Who may be offered genetic counselling
a family with a hostory of a genetic defect
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what 3 things may the advie be based on
history of the disorder int he family, whether the parents are closely rleated, freqency of the faulty gene in the general populaiton
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define the term clone
a polulatoin of genetically identical cells or organisms
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difine the term dna ligases
enzymes which join together potions of dna
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what is the name given to a gene isolated for insertion
donor dna
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what are plasmids
cirsular loops of dna found in bacteria. the plasmid is known as a vector
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what is recombinant dna
dna which results from the combination of fragments from 2 differnt organisms
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what are restriction enzymes
enzymes which cut dna molecule sbetween specific base sequences
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what are sticky ends
the 2 ends of the forgein dna segmen. The yhave a short row of unpaired bases that match the complementry bases at the two ends of the opend up plasmid
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what techniques are involve din geentic screening
a blood test, eg cystic fibrosis, amniocentisis, where amnioic fluid is withdrawn i nthe early stages of preganan
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What does the fluid contain
cells that have floated away from the surface of the embryo, which can be analysed microscopiclly
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name another method
chronic villus sampling
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when does htis take place
easrly in pregenancy , tiny sample of foetal tissues are withfrawn from the uterus, cultured and examined microscopicly
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name some eithical issues surorunding gene therapy
invasion of priviacy, inc in prenatal tests may lead to inc in abortions, insuranc eissues, use for the wrong reasons ie modifying chaercteristics in a child
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Other cards in this set

Card 2


name the other 3


fidn the locatoin of the genes on the 23 human chromasomes, store this informatoin on databases, consider al ethichal, social and legal issues which arise from obtaining info about the human genome

Card 3


what does this infomartion enable scientists to do


Preview of the front of card 3

Card 4


How does this process take place


Preview of the front of card 4

Card 5


What is the dna scanned for


Preview of the front of card 5
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