Higher Human Biology Unit 1 Human Cells KEY AREA 5: Human Genomics

Human Cells Learning Intentions KEY AREA 5 – Human Genomics 1.Sequencing DNA 2.Amplification and detection of DNA sequences

5a) Genomics  The human genome, is the complete set of genetic information found in a human  Human Genomics is the study of the human genome  Genomic sequencing involves determining the sequence of nucleotide bases along the DNA  Genomic sequencing can used to find out about individual genes and the entire genomes

5b) Bioinformatics  Bioinformatics is the name given to the fusion of molecular biology, statistical analysis and computer technology to map and analyse DNA sequences

5c) Systematics  Systematics compares human genome sequence data and genomes of other species to provide information on evolutionary relationships and origins

5d) Personal Genome Sequence  A personal genome sequence is a complete set of the person’s DNA bases  Personalised medicine is based on an individual’s genome  Analysis of an individual’s genome may lead to personalised medicine through understanding the genetic component of risk of disease

5e) Pharmacogenetics  Pharmacogenetics is the study of the effects of pharmaceutical drugs on the genetically diverse members of the human population.

5f) Amplification of DNA Sequences Amplification of DNA Sequences  Genome Sequencing involves using a method called Polymerase Chain Reaction (PCR) to amplify DNA  PCR uses complementary primers for a specific target sequence.  PCR involves heating the DNA to separate the strands then cooling the DNA so the primer binds  Heat tolerant DNA polymerase then replicates the region of DNA  Repeated cycles of heating and cooling amplify this region of DNA

5f) Detection of DNA Sequences Detection of DNA Sequences  DNA probes are short single stranded fragments of DNA that are complementary to a specific sequence which are usually detected by fluorescent labelling  Applications of DNA profiling allow the identification of individuals through comparison of regions of the genome with highly variable numbers of repetitive sequences of DNA Medical Uses of PCR PCR can be used to:- 1.Diagnose a disease 2.Estimate the risk of disease onset Forensic Uses of PCR Forensic scientists use PCR to amplify DNA samples from a crime scene Paternity Disputes PCR followed by Gel Electrophoresis can be used to confirm genetic relationships between individuals

5f) Amplification & Detection of DNA Sequences Polymerase Chain Reaction (page 71 Torrance)

Human Cells Questions KEY AREA 5 – Human Genomics 1.Testing Your Knowledge 1Page 70 Q’s Testing Your Knowledge 2Page 76Q’s What You Should KnowPage 76Q Quick Quiz