Recent studies in mice have provided strong evidence for a modifier gene that is capable of effecting the expression of the mouse equivalent of familial adenomatous polyposis (FAP). A candidate gene has been proposed, namely secretory phospholipase A2 (sPLA2). Increased tumor number in mice was correlated with low levels of sPLA2 expression and the presence of truncating mutations within the sPLA2 gene. In an attempt to determine whether any genetic alterations in the sPLA2 gene were associated with the expression of FAP in man, we investigated the genetic structure of sPLA2 in 97 polyposis coli patients presenting with various disease phenotypes, and its expression in 8 FAP patients displaying markedly different disease characteristics. In the current study no inactivating mutations in the sPLA2 gene were identified, suggesting that human sPLA2 is not associated with phenotypic variation in FAP.
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Received: 25 March 1996 / Revised: 9 April 1996
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Dobbie, Z., Müller, H. & Scott, R. Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis. Hum Genet 98, 386–390 (1996). https://doi.org/10.1007/s004390050226
- Candidate Gene
- Strong Evidence
- Genetic Structure
- Phenotypic Variation
- Genetic Alteration