Application of reproduction & genetics Flashcards
what is the intended purpose of the Human Genome Project & 100K Genome Project?
to improve knowledge and understanding of genetic disorders and improve their diagnosis and treatment
when did the Human Genome Project begin and end?
1990 & 2003
what did the Human Genome Project discover?
the order of DNA bases in genomes
the distribution and sequences of introns and exons
the loci of individual genes
describe the method of Sanger Sequencing that scientists used
it is a DNA sequencing process that involved reading the base sequence of a length of DNA
this method sequenced relatively small sections of DNA at a time (usually <1000bps) and took a long time e.g. a year to sequence a million base pairs
define genome
all of the genetic information of an organism
describe the method of Next Generation Sequencing (NGS)
a new rapid technique that sequences an entire genome in a few hours
enable scientists to study variation within the human genome
describe the 100k Genome Project
launched in 2012
used NGS to sequence 100,000 genomes from the NHS patients with cancer or rare diseases
what does the 100K Genome Project enable us to do?
locate genes responsible for rare diseases and cancers
locate mutated genes
compare genomes of genetic disorder sufferers with the normal genome
develop treatments for genetic disorders
undergo effective prenatal diagnosis for genetic disorders
what information has the 100K Genome Project provided us?
identification of allele sequences has enabled scientists to scan a patient’s DNA sample for mutated sequences and to compare the sequence of DNA bases in a patient’s gene to a normal version of the gene
IVF embryos can be screened for the presence of alleles which cause conditions including cystic fibrosis, Huntington’s disease and thalassaemia
genetic screening can be useful in association with genetic counselling, allowing a couple to make informed decisions before having children
what could the data produced by the Human Genome Project & 100K Genome Project be used for?
unsure how this information may be used in the future
society has yet to decide how it should be treated and where legal and moral responsibilities lie
state a few ethical issues regarding the screening of DNA
ownership of genetic information that could lead to potential discrimination e.g. health insurance, job applications, social stigmatisation and misuse of data
there are a number of concerns regarding the possibility of routine screening for adult-onset disorders such as Alzheimer’s disease and some cancers
some people do not want to learn this information about themselves, it could cause anxiety
concerns have arisen over embryo screening and the potential for choosing alleles to ensure specific characteristics: ‘designer babies’
what other species have had their genomes screened and why?
mosquito (anopheles gambiae & plasmodium parasite)
chimpanzees
other primates
allowed scientists to look at revolutionary relationships and to conserve species in the future
what are two other methods that could be used to determine how closely related organisms are?
DNA hybridisation
amino acid sequence analysis
describe the resistance mosquitos have against insecticide
rapid evolution of insecticide resistance in the anopheles gambiae mosquito is hampering attempts to eradicate the disease, which is responsible for over a million deaths per year
pyrethroid resistance is a problem as this is the only insecticide safe for use with the nets that people sleep under
when was the DNA sequence for the anopheles gambiae (vector) completed and why is it useful for scientists?
2002
allowing scientists to develop chemicals that could render the mosquito susceptible to insecticides again, preventing it from transmitting malaria
describe the resistance and the genome sequencing reasons of the plasmodium sp. parasite
plasmodium sp. also has developed multi-drug resistance
scientists hoped that a better understanding of genetic control of plasmodium infection will allow the development of more effective drugs
