A DNA study in twin total colonic aganglionosis
Keywords:
Total colonic aganglionosisAbstract
Hirschsprung's disease is a frequent congenital malformation of unknown origin resulting in intestinal obstruction in neonates. In the majority of the cases (80%), the aganglionic tract involves the rectum and the sigmoid colon while in 7% of cases it extends toward the entire colon (total aganglionosis) Recently, study of the pathogenesis of Hirschsprung's disease has concentrated on the genetic aspects. In the most recent studies, some groups were able to identify mutations of the RET protooncogene, thus suggesting a possible cause of the disease.
We report here a pair of twins, one member of which was effected by total colonic aganglionosis while the other was entirely normal. The monozygoticity was supported by using common DNA polymorphism short tandem repeat loci. Their parents' DNA polymorphism patterns were also studied.
References
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