Higher Human | Human Genomics

The following links offer some useful revision on Cell Structure to support your learning:

At Higher, you will need to know the following:

Bioinformatics is the use of computer technology to identify DNA sequences.
The sequence of bases can be determined for individual genes and entire genomes.
The enormous amount of data produced by DNA and protein sequencing can be managed and analysed using computer technology and shared over the internet.
Computer programs can be used to identify gene sequences by looking for coding sequences similar to known genes, start sequences or sequences lacking stop codons.
Computer programs can be used to identify base sequences that correspond to the amino acid sequence of a protein.
Systematics compares human genome sequence data and genomes of other species to provide information on evolutionary relationships and origins.
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.
The importance of distinguishing between neutral and harmful mutations and the complex nature of many diseases.
Pharmacogenetics and the use of genome information in the choice of effective drugs
The polymerase chain reaction (PCR) is a technique for the amplification of DNA in vitro.
Amplification and detection of DNA sequences. Polymerase Chain Reaction (PCR) amplification of DNA using complementary primers for specific target sequences. DNA heated to separate strands then cooled for primer binding. Heat-tolerant DNA polymerase then replicates the region of DNA. Repeated cycles of heating and cooling amplify this region of DNA.
In PCR, primers are complementary to specific target sequences at the two ends of the region to be amplified. Cooling allows primers to bind to target sequences.
Arrays of DNA probes are used to detect the presence of specific sequences in samples of DNA. The probes are short single stranded fragments of DNA that are complementary to a specific sequence. Fluorescent labelling allows detection.
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.
By screening a cell sample from a patient for the presence or absence of a particular sequence, a diagnosis of disease status or risk of disease onset can be made.