module 3

• CRISPR-Cas9 is a technique for editing genes in living cells that repurposes a bacterial defence mechanism
• Chimpanzee is the common name fr species for the species that is closest living relatives to humans
• A carrier is the who only has one recessive allele for a disease
• Determination is the progressive restriction of a cells' developmental potential, the cells possible fate becomes more limited as the embyro develops
• The thousand genome project is aimed to map variation in the human genome project from populations all over the world
• Deletion, duplication, inversion and translocation are all forms of chromosomal rearrangements
• competitive genomics is the study that compares the genomes of different organisms to answer questions about biology
• monogenic defines a disease caused by a single gene
• a model organism is a particular species chosen fro research into broad biological samples because it is easy to control and manipulate
• A frameshift is a genetic variation that is caused by the insertion or deletion of nucleotides from a protein coding sequence
• genetic equivalence are differentiated cells that still contain all the DNA required to build a new organism
• Novel are 'new' variants in a genome
• A disease causing a variant is called pathogenic
• Short Tandem Repeat is a type of genetic variant that involves repeated units if 2-6 nucleotides, creating alleles of varying lengths
• For a person to have autosomal disease, they need 1 allele disease
• DNA from two ancient hominin species was sequenced from bone fragments found in the denisova cave
• A genetic technique that aims to discover what a gene does by breaking that gene, performing a genetic screenm or inserting the gene of interest into another organism is called 'Functional molecular genetic technique'
• hybridisation is interbreeding 2 different species
• The human diploid genome is 6 billion base pairs long
• the DNA fingerprint is created by assessing the alleles of a person at multiple STR sites
• To show representation of a disease inheritance in a family is called a Pedigree
• The inner cell mass is where embryonic stem cells are found in the blastocyst
• SNP that causes a change to an amino acid sequence of a protein is called Misense variant
• Stem cells are an unspecialised cell that can divide to produce either specialised cells or more unspecialised cells
• The CFTR (deltaF508) causes cystic fibrosis causing Indels
• When an embryonic can create all cell types are called pluripotent
• Autosomal Inheritance pattern is when a father passes on disease to son an daughter
• Denisovan allele provided to Tibetan people with an adaption to living at high altitudes
• A differentiated cell can be deprogrammed in the labratory and induced to be pluripotent stem cell