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Journal : Paediatrica Indonesiana

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
Paediatrica Indonesiana Vol 48 No 2 (2008): March 2008
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (578.444 KB) | DOI: 10.14238/pi48.2.2008.88-92

Abstract

Background Hirschsprung disease (HSCR) is a heterogenouscongenital disorder and the current research show that the RETgene is a major locus involved in its pathogenesis. However,whether these genes take a part in sporadically Indonesian HSCRhave not been fully understood.Objective The aim of this study was to analyze the association ofRET gene c2307T>G polymorphism among HSCR patient inYogyakarta population.Methods Genomic DNA was extracted from bowel tissues of 34patients with sporadic HSCR which were removed by surgery ascase group and blood DNA from 46 healthy persons as controlgroup without history of genetic disorder. Exon 13 of RET genewas amplified by polymerase chain reaction (PCR) and wasanalyzed by restriction fragment length polymorphism (RFLP).Results Of 34 patients, 22 were males and 12 were females, givingmale to female ratio of 1.83:1. The c2307T>G polymorphism inRET exon 13 was not significantly difference between patientand control group (chi-square test P=0.17). However, there wasa significant difference in female patient compare with control(chi-square test P=0,04).Conclusion The RET gene c2307T>G polymorphism was foundamong HSCR patient in Yogyakarta population. This poly-morphism can be used as predictor for development of HSCRamong female individual.
Co-Authors A. Nururrochman Hidayatulloh A.A Sagung Laksmi Dewi Adila Anbar Syafitri Agus, Yohanes Hendro Ahmad Atiq Ahmad Hamim Sadewa Aisyah Latifa Amalia Ameliana Safitri Amri, Irman Andri Martoni Andriani, Diyah Iis Ani Heryani Ani Heryani Anna Simatauw Ansharullah ansharullah Aswin Anthon Julius Koenoe Aviantara, I Gusti Ngurah Apriadi Ayu Valentina, Ayu Aziz Purwantoro Bangkit Lutfiaji Syaefullah Basromi Ali Budi Sulistiyo Nugroho Chyntia Wulandari Eka Saputri Destriana, Rachmat Diana Diana Dianatika Azmi Diansanto Prayoga Dilla Hativa Diori Beca Narmalia Malau Djaling, Krisna Wardhana Dori Eka Putra Dyanasari Dyanasari Ebit Bachtiar Eka Supriatna Elok Faiqoh Endah Purwaningsih Endang Fatmawati Endang Sulistyaningsih Ernilasari Ernilasari Fadli Fadli Farida Aeini Fatmawati Fatmawati Fawzi, Ahmad Raldiano Fitria Alda Safira Gede Arda Guna, Kadek Mahendra Adhi Husniati Husniati Husniati Husniati, Husniati I Gusti Ngurah Apriadi Aviantara I Gusti Putu Angga Wira Dananjaya I Kadek Puja Harta Hadi I M. A.S. Wijaya I M. Nada I Made Nada I MADE SUPARTHA UTAMA I Putu Agus Oka Mahendra I Putu Surya Wirawan I Wayan Adi Saputra I Wayan Widia I. A. G. Bintang Madrini Ibrahim Syaifuddin Ida Ayu Agung Putri Trisiana Dewi Ida Ayu Putu Sri Widnyani Ida Bagus Putu Gunadnya Imam Jayanto Indraswari, Thamita Irhamni Irhamni Johanes Paulus Djandon Jr. Juriko Abdussamad KOMANG AYU NOCIANITRI Lukmanul Hakim Marhaeni, Ni Made Yulistiana Muhammad Syahrir Musa Marsel Maipauw Muzakir Ni Ketut Sari Martini Ni Luh Yulianti Ni Made Ayu Manik Suantari Ni Nyoman Puspawati Ni Nyoman Sulastri Ni Putu Nita Lospiani Ni Wayan Prilia Dewi Nur Arif Nugraha Pande Ketut Diah Kencana Priyadi, Dwi Ahmad Rahma Dani Putra Rahmadi Rahmadii Ramendra Wiro Ginting Ratnaningsih, Muliani RH. Fitri Faradilla Ridho Hambali Rika Afriyanti Riski Nirmala Sidabutar Rizky Destian Rochadi Rochadi Rohmad Abidin, Rohmad Rony, Zahara Tussoleha Rustandi Rustandi SATRIYAS ILYAS Sefri Ton Semaraputri, Jessica Heidy Tiku Silmina Adzhani Sri Yulianto Joko Prasetyo SUMIYATI SUMIYATI Sumiyati Sumiyati Surfa Yondri SUWIJIYO PRAMONO Suzanni, Mulia Aria Taufan Taufan Ulianti, Gusti Ayu Putri Mei Vidia Timur Waksi, Fajar wayan T Artama Wayan Tika Widia Sutriani Widiati, Ida Ayu Putu Wijaya, Fef Rama Jaya Wirawan, Vani Wiryatun Lestariana yanti novita Yanuardi Yanuardi Yohanes Setiyo Zuchri Abdussamad