Elsevier

Neuroscience Letters

Volume 290, Issue 2, 25 August 2000, Pages 117-120
Neuroscience Letters

Examination of the human prion protein-like gene Doppel for genetic susceptibility to sporadic and variant Creutzfeldt–Jakob disease

https://doi.org/10.1016/S0304-3940(00)01319-7Get rights and content

Abstract

A novel human gene named Doppel (DPL) that has homology to the prion protein gene (PRNP) has recently been identified on chromosome 20p. By automated sequencing we have found a common (M174T, 48%) and an uncommon coding polymorphism. The polymorphic frequency of the M174T allele was examined in cases of variant and sporadic Creutzfeldt–Jakob Disease and compared with the frequency in the normal UK population. In sharp distinction to the M129V polymorphism of PRNP we have not found any evidence of disease association nor is there any association with age of onset, disease duration, or prion protein (PrPSc) strain type.

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Acknowledgements

This work was funded by the Wellcome Trust and Medical Research Council. Dr T.H. Pringle is acknowledged for first reporting the bioinformatics of the Dpl gene and useful discussion. Ray Young assisted with figure design.

References (11)

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