TPI Deficiency Codon 104 Mutation

Last Updated 24th November 1996

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The research team at Kings have located a common mutation within the TPI gene indicating a genetic link between the TPI families. Below is an extract from a Kings TPI research project update report:

"TPI deficiency is an inherited disorder of cellular housekeeping. We peformed DNA analysis in seven families from the UK and Australia. A common genetic 'mutation' was found in all the families. Linkage of this mutation to a genetic change or 'polymorphism' suggests that this mutation originated in a common ancestor. Genealogical studies may help us track the mutation back through the generations and reveal more about the origin of this disease. Two new mutations with very different effects on TPI structure and function were found together with the recurring mutation in three families. Further studies should provide new insight into the link between these genetic defects and the clinical problems seen in TPI deficiency. The discovery of the causative mutations has also made possible diagnosis of TPI deficiency early in pregnency. First-trimester pre-natal diagnosis has now been performed by us in three families with TPI deficiency."

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