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Addenbrookes Hospital

I spent four weeks in September 2008 working at the molecular genetics department at Addenbrookes Hospital and 3 more weeks in March 2010. During these two months I worked on creating and validating several genetics tests for two genes to enable the use of these for routine genetic testing.

Multiplex Ligation-dependant Probe Amplification (MLPA) was used to detect mutations and exon deletions in the ALDOB gene. This gene when mutated can cause the disease Hereditary Fructose Intolerance (HFI)


Linkage Analysis using microsatellites was used to explore the inheritance of mutations in the INSR gene. When the insulin receptor gene is mutated it can lead to the diseases Donohue Syndrome and Rabson-Mendenhall Syndrome.

INSR gene

Adapted from Susumu Seino, Mitsuko Seino and Graeme I. Bell, Diabetes Vol. 39 1990, 129-133