Molecular Diagnostics

LO's: How to isolate and purify DNA Methods used to analyse DNA The basics of recombinant DNA technology Current ligase independent and sequence independent methods of DNA cloning

LO's: Molecular processes that underlie in vivo DNA synthesis and how this can applied in vitro in synthetic biology PCR, the principles of hybridisation and its applications

LO's: Explain and predict how genetic materials affect the phenotype of living creatures. Select appropriate diagnostic methodology and technology in the area of molecular diagnostics.

Explain what cystic fibrosis is Explain how the Amplification refractory mutation system (ARMS) works Explain how oligonucleotide ligation assay works Describe how to diagnose genetic disorders such as Cystic fibrosis via ARMS/OLA

Explain the relationship between Y chromosome and male fertility Describe Sequence Tagged Sites Explain how Y deletion testing work

Explain what aneuploidy is (chromosome copy number abnormalities) Describe the common prenatal diagnostic method used in the UK Explain how to study Microsatellite sequences and short tandem repeats (STR’s) via the Basis of Quantitative Fluorescence (QF) PCR

LO's: Explain what Duchenne muscular dystrophy is Explain the working principle of Multiplex ligation-dependent probe amplification (MLPA) Explain how to use MLPA for Duchenne muscular dystrophy diagnosis

LO's: Describe what is Fragile X Syndrome Describe the diseases associated with expansion of nucleotide repeat sequences Explain how to diagnose Fragile X Syndrome using repeat expansion disorders Triplet-repeat primed PCR

Describe the origins of DNA sequence variation, mechanisms of DNA repair and consequences of mutation to protein function To appreciate that unrepaired DNA damage can result in genetic variation To explain the different types of genetic variation

Describe the origins of DNA sequence variation, mechanisms of DNA repair and consequences of mutation to protein function - To understand that genetic variation can result in disease, but can be beneficial or have no known effect - To explain how genetic variation can be used to further understand genome function Understand the principles of the DNA polymerase chain reaction and quantitation (QPCR) and interpret data from various methods of product detection including agarose gel electrophor