| Research Abstract |
In this research project, mutational analysis of Hirschsprung's disease and its related disorders was performed with special attention to possible DNA diagnosis and therapy. Germline mutations of the RET proto-oncogene have been studied in Hirschsprung's disease, multiple endocrine neoplasis (MEN) type 2A,and MEN type 2B.
Medical charts of 100 patients with these neurocristopathy were reviewed to examine the family-tree, disease penetrance and the presence of certain disease features of related pathology. RET DNA sequences were determined using a direct DyeDeoxy Terminator Cycle method using specific PCR primers. RET gene mutations were found in exon 5,7,10,11,13,15,16, or 17 ; MTC and/or pheochromocytoma were present with high penetrance but Hirschsprung's disease with low. To date, genetic diagnosis of Hirschsprung's disease may be difficult because of scattered distribution of RET gene mutation (all over the RET gene), and low penetrance of the disease. In the next future research project, further investigations are required examine possible association between the RET mutational pattern and type of disease expression as intestinal aganglionosis.
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