Applications of Reproduction and Genetics

A international research project which uses ‘sanger sequencing’ to research releatively small sections of DNA to improve knowledge and understanding of genetic disorders.

• Identify all the genes in the human genome and identify which chromosome each is on. • Determine the base sequences of the 3 billion base pairs in human DNA and store the information in databases.

A UK government project that aims to study the human genome amongst 100,000 people using Next generation Sequencers (NGS) to sequence an entire genome in a few hours.

The study of the complete genetic material of an organism; their genome.

• Ownership of information • Social stigmatisation • Storage of genetic information and misuse.

• Provides information regarding evolutionary relationships improving classification. • Improved conservation of species

A genetic fingerprint that represents the introns (non-coding portions of DNA).

Regions of DNA that code for an amino acid.

Repeat blocks of nucleotide bases that form introns, producing variation in people.

• The polymerase chain reaction (PCR) • Gel electrophoresis

• Heat original DNA it 95C to denature the molecule by breaking hydrogen bonds and seperate it into two seperate strands. • Cool the solution to 50/60C stimulating the primers to bind to the DNA strands (annealing) as complimentary bases join. Thus DNA replication begins. • Reheat the solution to 70C with Dna Polymerase which catalyses the synethsis of a complementary strand for each template DNA stran by forming phosphodiester bonds in the sugar-phosphate backbone. Thus producing identical DNA molecules. • Steps are repeated, doubling the quanity of DNa each time.

Where the parental double helix seperates and each strand acts as a template for DNA.

To rapidly produce molecules from a single DNA molecule.

Nucleotide sequences that initiate DNA synthesis or the polymerase chain reaction.

A method of seperating DNA fragments acoording to size.

Agarose, containing pores in its matrix.

• DNA is extracted from a sample and cut into fragments using restriction endonucleases. • The fragments of varying lengths are placed into wells at one end of a slab of agarose gel. • An electric current is applies to the gel causing the negatively charged DNA fragments to move towards the positive end of the gel. • Smaller fragments find it easier to migrate throught t he pores and so travel further. • DNA is seperated into bands unique to every individual. If you run a DNA ladder (fragment of a known size) you can work out the unknown fragment sizes by comparison.

A restriction endonuclease is a bacterial enzyme that cuts DNA at specific nucleotide sequences.

The transfer of a gene from one organism into another so that it is expressed in its new host.

• Identify the gene using a gene probe and obtain the gene using restriction endonucleases or reverse transcriptase. • Place gene into a vector (delivery system) by destabilising bacterial cell walls and breakind down the cell membrane. Plasmids can be isolared and cut open using restriction endonuclease. DNA ligase can then join the gene to the DNA in the sticky ends via phosphodiester bonds. This new structure is recombinant DNA. • Insert the vector into the host cell via transgenic bacteria which contain the recombinant plasmids.

• Reverse transcriptase synthesises copy DNA (cDNA) using a mRNA template that is complementary to the target gene. • DNA polymerase uses free nucleotide bases to create a double stranded DNA molecule that is an exact copy of the target gene.

The enzyme cuts the DNA into fragments producing sticky ends. Individual genes can be isolated.

Unpaired bases added to the beginning and end of a DNA strand.

• You don’t need to locate the gene. • The DNA produce doesnt have introns as its copied from functional mRNA. There is no need for post transctiptional processing to produce functional mRNA. • The DNA has no non-functional fragments.