Higher G allele frequency of RET C2307t>G polymorphism in female patients with Hirschsprung disease in Yogyakarta, Indonesia

  • Ahmad Hamim Sadewa
  • Saryono Saryono
  • Rochadi Rochadi
  • Wiryatun Lestariana
  • Wayan T Artama
Keywords: Hirschsprung disease, RET gene, polymorphism, RFLP


Background Hirschsprung disease (HSCR) is a heterogenous
congenital disorder and the current research show that the RET
gene is a major locus involved in its pathogenesis. However,
whether these genes take a part in sporadically Indonesian HSCR
have not been fully understood.
Objective The aim of this study was to analyze the association of
RET gene c2307T>G polymorphism among HSCR patient in
Yogyakarta population.
Methods Genomic DNA was extracted from bowel tissues of 34
patients with sporadic HSCR which were removed by surgery as
case group and blood DNA from 46 healthy persons as control
group without history of genetic disorder. Exon 13 of RET gene
was amplified by polymerase chain reaction (PCR) and was
analyzed by restriction fragment length polymorphism (RFLP).
Results Of 34 patients, 22 were males and 12 were females, giving
male to female ratio of 1.83:1. The c2307T>G polymorphism in
RET exon 13 was not significantly difference between patient
and control group (chi-square test P=0.17). However, there was
a significant difference in female patient compare with control
(chi-square test P=0,04).
Conclusion The RET gene c2307T>G polymorphism was found
among HSCR patient in Yogyakarta population. This poly-
morphism can be used as predictor for development of HSCR
among female individual.

Author Biographies

Ahmad Hamim Sadewa
Department of Biochemistry, Medical School, Gadjah Mada
University, Yogyakarta, Indonesia
Saryono Saryono
Department of Biochemistry, Medical School, Soedirman University, Purwokerto, Indonesia
Rochadi Rochadi
Department of Pediatric Surgery, Medical School,
Gadjah Mada University, Yogyakarta, Indonesia
Wiryatun Lestariana
Department of Biochemistry, Medical School, Gadjah Mada
University, Yogyakarta, Indonesia
Wayan T Artama
Department of Biochemistry, Vetenary School, Gadjah Mada University, Yogyakarta, Indonesia


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How to Cite
Sadewa A, Saryono S, Rochadi R, Lestariana W, Artama W. Higher G allele frequency of RET C2307t>G polymorphism in female patients with Hirschsprung disease in Yogyakarta, Indonesia. PI [Internet]. 1May2008 [cited 1Dec.2023];48(2):88-2. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/484
Received 2016-09-07
Accepted 2016-09-07
Published 2008-05-01