RET single nucleotide polymorphism in Indonesians with sporadic Hirschsprung’s disease

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Published: 2010-08-26
DOI: https://doi.org/10.18051/UnivMed.2010.v29.71-77
Keywords:
Hirschsprung’s disease, RET gene, c135GàA, exon 2

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Saryono Saryono
Department of Biochemistry, School of Medicine, Soedirman University, Purwokerto
Rochadi Rochadi
Department of Paediatric Surgery, School of Medicine, Gadjah Mada University, Yogyakarta
Wiryatun Lestariana
Department of Biochemistry, School of Medicine, Gadjah Mada University, Yogyakarta
Wayan T Artama
Department of Biochemistry, School of Veterinary, Gadjah Mada University, Yogyakarta
Ahmad Hamim Sadewa
Department of Biochemistry, School of Medicine, Gadjah Mada University, Yogyakarta

Abstract

The tyrosine kinase receptor RET, which is the protein product of the RET gene, is involved in the development of the mammalian nervous system that causes Hirschsprung’s disease (HSCR). RETs are cell surface molecules that are expressed in cells derived from the neural crest. The purpose of this study was to investigate the polymorphism of the RET gene in HSCR in the Yogyakarta population. Genomic DNA was extracted from surgically removed bowel tissues of 54 unrelated HSCR patients. Exon 2 of the RET gene was amplified by polymerase chain reaction (PCR) and analyzed by restriction fragment length polymorphism (RFLP). Molecular results were compared with clinical performance of Hirschsprung patients. RET polymorphism was detected in exon 2 in all of the 54 Indonesian HSCR patients. The allelic distribution of the c135GàA polymorphism in the RET exon 2 indicated that the A allele was more frequent in patients than in control individuals (chi-square test, p= 0.001). Thus the RET variant allele A is over-represented in patients affected with the HSCR phenotype. Polymorphism of exon 2 of the RET gene was found in sporadic Hirschsprung’s disease in the Yogyakarta population, which suggests that the RET gene plays important roles in the pathogenesis of HSCR.

Article Details

Issue

Vol. 29 No. 2 (2010)

Section

Review Article

The journal allows the authors to hold the copyright without restrictions and allow the authors to retain publishing rights without restrictions.

How to Cite

RET single nucleotide polymorphism in Indonesians with sporadic Hirschsprung’s disease. (2010). Universa Medicina, 29(2), 71-77. https://doi.org/10.18051/UnivMed.2010.v29.71-77

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