Genetic studies of pyloric stenosis

Infantile hypertrophic pyloric stenosis is regarded as a prototypic polygenic disease. However modern methods may be able to uncover single major locus effects, and Professor Gardiner at UCL has recruited a number of multiply affected pedigrees in order to carry out linkage studies. Our study of NOS1, a strong candidate based on animal studies, provided some evidence for linkage disequilibrium. Studies are in progress to see if any mutation can be found in affected subjects.

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