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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 . Harapan . HERNAYANTI . Syahrul Abdul Salam M Sofro, Abdul Salam Abdul Salam M. Sofro Abdul Salam Mudzakir Sofro Abdul Salam Mudzakir Sofro, Abdul Salam Mudzakir Abdurahman Laqif Abdurahman Laqif Abdus Samik Wahab Abrory Agus Cahya Pramana Ahmad Husain Asdie Ahmad Husain Asdie Ahmad Husain Asdie Ajeng Viska Icanervilia Akhmad Kharis Nugroho Alfasunu, Serafim Anggelia Puspasari Anggoro Budi Hartopo Ani Kristiyani Arif Faisal Arif Faisal Arta Farmawati Arta Farmawati Atmaja, Sarah Awal Prasetyo Bai Apris Bambang Hariono Bambang Hariono Bambang Hariono Bansai Immanuel Bernadia Branitamahisi Bernadia Branitamahisi Budi Yuli Setianto Cahyono Hadi Cahyono Hadi Christine Patramurti Citra Maharani Danarsih, Dwi Eni Darojatun Ida Demas Bayu Handika Dessy Rakhmawati Emril Dewajani Purnomosari Dian Caturini Sulistyonigrum Dian Lestari, Nova Dianandha Septiana Rubi Dibyo Pramono Didik Setyo Heriyanto Djaswadi Dasuki Djaswadi Dasuki Djaswadi Dasuki Dono Indarto Dono Indarto DONO INDARTO Dwi Aris Agung Nugrahaningsih Dyah Wulan Anggrahini Ellsya Angeline Rawar Emilia Vivi Arsita Emy Huriyati Endang Mutiawati Rahayuningsih* Faisal Rahman Fransisca Shinta Maharini Hanafi, Arif Riswahyudi Hari Kusnanto Hasan Sjahrir Hemi Sinorita Hendi Wicaksono Hernayanti , Hernayanti Hernayanti Hernayanti HERNAYANTI HERNAYANTI Hexa Apriliana Hidayah I Gusti Ayu Nyoman Danuyanti I NYOMAN MANTIK ASTAWA Ida Ayu Preharsini Ida Ayu Preharsini Kusuma Ika Rahayu Ika Setyawati Ikhsan, M. Robikhul Imelda, Priscillia Indwiani Astuti Indwiani Astuti Indwiani Astuti Inna Narayani Iskandar Zakaria Jayusman, Achmad Mulawarman Jenny Hidayat Jontari Hutagalung Kik Hao Samuel Kris Herawan Timotius Kusumadewi Eka Damayanti Kusumadewi Eka Damayanti Kusumadewi Eka Damayanti Lina Choridah Linawati Hananta, Linawati Lucia Krisdinarti Lukman Hakim M. Robikhul Ikhsan Maliyah Madiyan Maria Dara Novi Handayani, Maria Dara Novi Marsetyawan HNE Soesatyo Mega Tyas Prihatin Mohammad Robikhul Ikhsan Mus, Rosdiana Mustofa Mustofa Mustofa Mustofa Ngadikun - Ngadikun Ngadikun Nor Istiqomah Nor Istiqomah Nor Istiqomah Nor Sri Inayati Nor Sri Inayati Novijanti Rintis Nurtjahjo Dwi Sasongko P. Purwono Pinda Hutajulu Pinda Hutajulu, Pinda Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti, Pramudji Prasetyastuti Prasetyastuti Prasetyastuti Prasetyastuti Prasetyastuti Prasetyastuti, . Rasmaya Niruri Ratih Feraritra Danu Atmaja Rina Pratiwi Pudja I. A Rina Susilowati RIZKI FAJAR UTAMI Rochadi Rochadi Rochadi Rochadi, Rochadi S. Supargiyono Sabirin, Rahmaningsih Mara Sarah Safira Umarghanies Saryono Saryono Satyagraha Ari Winasti Seto Priyambodo Setyo Purwono Siti Boedina Kresno Siti Wahyuningsih Sofia Mubarika Haryana Sri Sutarni Sri Wahyuni Subagus Wahyuono Subagus Wahyuono Sukarti Moeljopawiro Sukarti Moeljopawiro Sukarti Moeljopawiro Sunarti Sunarti Sunarti Sunarti Sunarti Sunarti Sunarti Sunarti, Sunarti Sunarto Ang Tasmini - Tasmini Tasmini Teguh Aryandono Titiek Suhardi Haripurnomo Kushadiwijaya Hidayati Totok Utoro Totok Utoro Triwibowo A. Garjito Umarghanies, Sarah Safira Viren Ramadhan Vitarani Dwi Ananda Ningrum Vitria Sari Dewi Vitria Sari Dewi Waode Astria Sahrani Wasilah Rochmah wayan T Artama wayan T Artama Wayan Tunas Artama Widhiastuti, Stefani Santi Wiryatun Lestariana Wiryatun Lestariana, Wiryatun Wiwik Handayani Yuliana Heri Soesilo Yuliana Heri Soesilo Yuliana Heri Soesilo Yuliani, Fara Silvia Yunilistiaingsih Yunilistiaingsih Yunilistiaingsih, Yunilistiaingsih Yuningtyaswari Yuningtyaswari Zainal Arifin Nang Agus Zullies Ikawati