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

Vol. 51 No. 2, 2010


V. Broasca, Camelia Ciobotaru, Iuliana Dimofte, Mariana Aschie, A. Pruna, Beatrice Severin

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. We made a case-control study for the period 1995-2006 and analyzed 21 cases of Hirschsprung's disease, which were treated in the Emergency County Hospital, Constanta. The diagnostic methods comprised clinical and paraclinical examination. The chromosomal markers used in the study are represented by four categories of chromosome abnormalities: Trisomy 21, Del 10q, Del 13q, Del 17q. The molecular markers investigated by us are represented by: RET, EDNRB and EDN3. We made the correlation of genetic markers with the anatomopathological and histopathological forms, by measuring the level of association, expressed by the calculated relative risk (OR) and using the correlation index Fi. Based on data obtained from the group investigated, we found that the indices of association and correlation are consistently higher compared to DNA-markers with chromosomal markers, both for anatomopathological forms as well as histopathological. We noticed that no chromosomes markers were recorded with indices of correlation with negative values, which means that these chromosomal abnormalities are involved with a particular quota to the release of disease.

Corresponding author: Valentin Broasca, MD, e-mail:

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