A DNA study in twin total colonic aganglionosis

Authors

  • Somboon Roekwibunsi Department of Surgery, King Chulalongkorn Memorial Hospital, Patumwan, Bangkok 10330, Thailand
  • Apivat Mutirangura Department of Anatomy, King Chulalongkorn Memorial Hospital, Patumwan, Bangkok 10330, Thailand
  • Young Poovorawan Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Patumwan, Bangkok 10330, Thailand
  • Bidhya Chandrakamol Department of Surgery, King Chulalongkorn Memorial Hospital, Patumwan, Bangkok 10330, Thailand

Keywords:

Total colonic aganglionosis

Abstract

                 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

1. Passarge E: The Genetics of Hirschsprung's Disease: Evidence for Heterogeneous Etiology and a Study

2. Bodian M, Carter CO: Family Study of Hirschsprungs Disease. Ann Hum Genet 26:261,1963

3. Moore TC, Landers DB, Lachman RS, et al: Hirschsprung's Disease Discordant in Monozygotic Twins: A Study of Possible Environmental Factors in the Production of Colonic Aganglionosis. J Pediatr Surg 14:158-161, 1979

4. Siplovich L, Carmi R, Bar-Ziv J, et al: Discordant Hirschsprung's Disease in Monozygotic Twins. J Pediatr Surg 18:639-640, 1983

5. By R.J. Hannon, V.E. Boston: Discordant Hirschsprung's Disease in Monozygotic Twins: A Clue to Pathogenesis? J Pediatr Surg 11:1034-1035, 1988

6. Hammond HA, Jin L, Zhong Y, Caskey CT, Chakraborty R. Evaluation of 13 Short Tandem Repeat A DNA study in twin total colonic aganglinosis Am J Hum Genet 1994;55:175-89

7. Mutirangura A, Greenberg F, Butler MG, et al. Multiplex PCR of Three Dinucleotide repeats in the Prader-willi/Angelman Critical Region (15q11-q13): Molecular Diagnosis and Mechanism of Uniparental Disomy. Human Mol Gen 1993;2:143-151.

8. Hofatra RMW, Landsvater RM, Ceccherini l. A Mutation in the RET Proto-oncogene Associated With Multiple Endocrine Neoplasia Type 2B and Sporadic Medullary Thyroid Carcinoma. Nature 1994;367:375-6.

9. Romeo G, Ronchetto P, Luo Y et al. Point Mutations Affecting the Tyrosine Kinase Domain of the RET Proto-oncogene in Hirschsprungs Disease. Nature 1994;367:377-8.

10. Edery P, Lyonnet S, Mulligan LM. Mutations of the RET Proto-oncogene in Hirschsprung's Disease Nature

Downloads

Published

1996-09-30

How to Cite

1.
Roekwibunsi S, Mutirangura A, Poovorawan Y, Chandrakamol B. A DNA study in twin total colonic aganglionosis. Thai J Surg [Internet]. 1996 Sep. 30 [cited 2024 Jul. 18];17(3):124-9. Available from: https://he02.tci-thaijo.org/index.php/ThaiJSurg/article/view/250121

Issue

Section

Original Articles