The correlation of genetic markers with anatomoclinical and histopathological forms in Hirschsprung's disease.

Hirschsprung's disease is a birth defect that affects about one out of 5000 newborns. It is one of the most common causes of intestinal obstruction at the babies. The objectives of this study are to evaluate the characteristics of Hirschsprung's disease in Dobrogea area, test of genetic markers in families and single cases, estimate the value of the test in the diagnosis and for evolution.

[Method for the molecular diagnosis of lipoprotein lipase genetic deficiency].

Modifications of plasma lipid profile is one of the major causes of a high cardiovascular risk. They can be the consequences of mutations in the gene encoding lipoprotein lipase (LPL), an enzyme that has an important role in the metabolism of plasma lipoproteins. The aim of the present study was to put into practice a method for detecting the Gly188Glu mutation in the LPL gene.