term used to describe the fraction of allelecopies for a particular gene in a defined population
What is single nucleotide polymorphism ?
a point mutation (onesingle base ; G, C, A OR T replaces another) in a segment of DNA that ONLYOCCUR in more than 1% of a population (otherwise just a simple mutation)
Most SNPS are found in introns (DNA between genes) therefore have little effect on cell function
what does the Genome wide association studies do ?
rapidly scans for SNP markers across the genomes of individuals with a known disease/disorder and compare them to “control”individuals
SNPs can be used to identify people at risk of developing certain diseases or disorders by comparing their genetic makeup to those who already have it
The human genome project has been completed since 2003 and contains information about every gene in humans
What is the human genome project ?
international collaboration which aimed to sequence the entire humangenome using advanced technology
What are pedigrees?
visualcharts that show familial lineages and relationships (family tree). They are used to trackinherited traits and geneticdisorders and Predict the likelihood of offspring having inherited traits/genetic disorders. Males represented by squares & females by circles and individual with conditions a differentcolour
