2.7 - application of reproduction + genetics Flashcards
what’s the human genome project
international research project involving thousands of scientists which used sanger sequencing to successfully map the entire human genome
what’s DNA sequencing
identifying the base sequence of a DNA fragment
what’s sanger sequencing
method of DNA sequencing that only sequences relatively short sections of DNA at a time
takes a long time
potential benefits of the human genome project
- allows for development of targeted, personalised medical treatments + greater accuracy of diagnosis
- increased opportunities for screening genetic conditions + early detection of disease
- enables study of incidences of mutation in different genes
what’s the 100K genome project
UK government project that aims to study variation in the human genome amongst 100 000 UK citizens
uses next generation sequencing (NGS)
describe NGS
faster, cheaper + more accessible method of sequencing that can sequence entire genomes in a few hours
describe genetic counselling
- service that provides information + advice to people affected by/at risk of genetic diseases
- helps individuals + families make informed decisions
what’s genetic screening
- testing individuals for certain faulty alleles
- used to detect disorder such as cystic fibrosis, huntingtons + thalassemia
potential disadvantages of genetic screening
- may cause unnecessary stress + anxiety
- what happens to test results, discrimination from employers + insurance, misuse of info
- risk of false positives/negatives
- screening embryos can lead to designer babies
examples of organisms other than humans whose genomes have been sequenced
- chimpanzees + other primates
- mosquito
- plasmodium parasite
how has sequencing the genome of the mosquito been useful to humans
- they developed insecticide resistance
- sequencing enabled development of chemicals making mosquitos susceptible to insecticides
advantages of sequencing the genome of the plasmodium sp to humans
- they developed multi-drug resistance
- enables development of more effective drugs
what’s genetic fingerprinting
- technique used to genetically identify an organism
- applications in forensics, screening for hereditary diseases, paternity testing, selection for clinical trials
what are exons
region of DNA that comes for an amino acid sequence
what are introns
non-coding sequences of DNA
what are STRs
- short tandem repeats
- sections of repeated nucleotides within introns that produce variation in individuals
why techniques can be used to produce a genetic fingerprint
- PCR
- gel electrophoresis
what’s PCR
- polymerase chain reaction
- in vitro technique used to rapidly amplify fragments of DNA
describe the reaction mixture in the first stage of PCR
contains DNA fragment to be amplified, primers complementary to start of fragment, free nucleotides to match up to exposed bases, + taq polymerase to create new DNA
what’s taq DNA polymerase
thermally stable enzyme that synthesises double stranded molecule of DNA from single template strand using complementary nucleotides