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Journal : Universa Medicina

RET single nucleotide polymorphism in Indonesians with sporadic Hirschsprung’s disease Saryono, Saryono; Rochadi, Rochadi; Lestariana, Wiryatun; Artama, Wayan T; Sadewa, Ahmad Hamim
Universa Medicina Vol 29, No 2 (2010)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2010.v29.71-77

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.
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