applications of reproduction and genetics Flashcards
genomics meaning
Genomics is the study of the structure, function, evolution and mapping of genomes.
main goals of the Human Genome Project ??
to provide a complete and accurate sequence of the 3 billion DNA base pairs that make up the human genome
to identify all the genes in the human genome and find the location of each gene.
human genome project aims (7)
help us understand diseases to improve their diagnosis and treatment
identify mutations linked to different forms of cancer
improve design of medication
more accurately predict the effects of drugs
improve disease risk assessment
advance forensic applied sciences
use it in bioarcheology, anthropology and evolution.
what are the Next generation sequencers (NGS)
Next generation sequencers (NGS) are more modern versions of the Sanger sequencing technique which can produce a base sequence for a whole organism in only a few hours.
NGS advantages
NGS is significantly cheaper, quicker, needs significantly less DNA and is more accurate and reliable than Sanger sequencing.
how does Sanger sequencing work ??
For Sanger sequencing, a large amount of template DNA is needed for each read - several strands of template DNA are needed for each base being sequenced.
in NGS how can a sequence be obtained??
from a single strand
compare how NGS is quicker than Sanger sequencing in 2 ways.
In NGS, the chemical reaction is combined with the sequencing.
In Sanger sequencing, these are two separate processes.
In Sanger sequencing, a maximum of ~1kb can be analysed at a time.
In NGS, about 300Gb of DNA can be sequenced in the same run.
100k genome project
The 100K Genome Project aims to sequence the DNA of 100,000 people in the UK.
This is only possible because of the reduced cost and time using NGS.
The 100K Genome Project will enable scientists to study variation in the human genome.
what does the 100k project look at??
looking particularly at diseases like rare cancers.
100k project aims (5)
improve the accuracy of diagnoses
better predict the action of drugs
improve the design of drugs
find new ways of treating genetic diseases
explore the possibility of tailoring therapies to treat a disease in an individual person.
advantages (5) of genetic screening (which can be done following results of human genome project)
Can identify carriers of genetic disease.
Can provide genetic counselling.
Can screen embryos prior to implantation.
Assess future risk of developing a condition.
Can check a foetus during pregnancy to detect the presence of disorders such as cystic fibrosis, Huntington’s disease and thalassaemia.
disadvantages of genetic screening (6)
not always accurate
There is no cure for most conditions so only causes stress for people who have the gene.
Misuse of personal genetic information, for example by insurance companies/private health care/employers, who could discriminate against them.
knowledge that someone has a gene could lead to them being stigmatized
Concerns regarding the possibility of routine screening for adult onset disorders such as Alzheimer’s disease and some cancers.
Could be used to select embryos not for medical purposes, e.g. selection for specific characteristics.
