Human Genome Project Flashcards
What is the human genome project
Sequencing of all the DNA that make up a human
Uses of the human genome
Identifying new genes, how they are controlled and what products they code for and in researching the role of dif genes in disease and development of new screening techniques for these
How many bases long is the human genome and how many genes does it contain
3,200,000,000 bases and 20k to 25k genes
What percentage does coding DNA make up of the genome
Less than 2%
Why are non-coding regions of DNA useful in research
As some is highly conserved over time suggesting they somehow give selective advantage in preserving useful biological traits/minimising other traits that are less useful
What is a single-nucleotide polymorphism
DNA sequence variation that occurs when a single nucleotide in the genome sequence is altered in at least one percent of the population with one base substituted for another
Effect of SNPs
May alter the protein formed/have no effect on cell function but possessing particular SNPs could change likelihood of getting certain disease/response to drug
What is a candidate gene and what has identifying these led to
Gene that may cause a particular disease, can screen gene for mutations
What is a drug target
A specific molecule that a drug interacts with to bring about its effect
What is personalised medicine
Using information about a persons genome and the SNPs a person possesses to prescribe right drug at correct dose, can also use knowledge about the mutations they carry to make lifestyle changes
Example of using personalised medicine
Sequence patients DNA to determine if they possess a specific SNP associated with severe side effects when given a particular drug, so can modify the treatment to suit the individual
Ethical issues surrounding the human genome project
-whether insurance companies should have access to info on genetic predispositions to dif diseases
-who should the tests be used on and the use of these tests
-problems of confidentiality in terms of making and keeping records of individual genotypes
-medical treatments made possible through development of genetic technologies will likely be very expensive, not accessible to all
How can genetic testing lead to discrimination
Those identified as possessing genes associated with inherited diseases may face discrimination in employment/when applying for insurance as may have higher premiums even through the possession of the allele does not mean the person will necessarily develop the condition
