Kathleen Gharibian

• BSc (Hons) Human Genetics
• Quantitative PCR validation of genetic abnormalities in T-lineage acute lymphoblastic leukaemia (T-ALL) detected by Multiplex Ligation-dependent Probe Amplification (MLPA)

The characterisation of genetic abnormalities in the bone marrow blasts of patients with acute lymphoblastic leukaemia (ALL) has led to improvements in their outcome. A technique – MLPA – is now used for the detection of significant abnormalities in ALL. This was used to validate abnormalities in increasing concentrations of T-ALL cell line DNA to determine whether the technique was sensitive enough so that fluorescence in situ hybridisation (FISH) did not have to be performed. The relationship of these abnormalities to other genetic and clinical features including outcome will indicate their value as a future diagnostic test.

Funding source: Newcastle University