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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 Adriansyah, Reksi Bimawan Ahmad Hamim Sadewa Akbariah, Ainun Alfasari Amalia, Rahma Ahsani Amir Awaluddin Anandari, Dian Anas Sumeru Andini, Sopiah Annisa, Mumtaz Ardhi, Aulia Arhamawati, Sufia Arif Imam Hidayat ARIF KURNIAWAN Arif Setyo Upoyo Arrum Firda Ayu Maqfiroch, Arrum Firda Ayu Atikah Proverawati Atikah Proverawati, Atikah Aufa, Athiatul Aulia, Dany Aulia, Putri Regina Ayuni, Sharah Budi Aji, Budi Cahyaningrum, Eka Nur Caryanto, Valerio Basuni Carlo Cipto Leksono, Cipto Danang Pujo Broto Desiyani Nani Dian Fajarwati, Dian Doni Fitri Firdaus, Doni Fitri Dyah Umiyarni Purnamasari Dyna, Fitri Edy Fachrial Eka Andriani, Eka Endiyono, Stylla Vonch Endo Dardjito Endo Dardjito Fadila Fadila, Fadila Fajarianti, Aulia faza, umi Fazria, Alisa Nur Febriani, Aan Febrina, Wetri Fitri Kurniati, Fitri Gemael, Qorry Armen hardiyanto, lutfi Hasan Hasan Henri Setiawan Heritomo, Heritomo Hikmi Muharromah Pratiwi, Hikmi Muharromah Hilwan Yuda Teruna Hopi, Zikrilla mayuli Ilhami Romus, Ilhami Indah Nuraeni Indriyani, Tutut Rizki Iriansyah, Herinto Sidik Irma, Dasih Irnawati, Amelya Irwan Irwan Ismawati ismawati Ismawati Ismawati Itnawita, Itnawita Izzuddin, Deden Akbar Jabar, Ibnu Abdul Jamilah Jamilah Jehloh, Latifah Josef M Monteiro Karsih, Okta Rizal Kartika Dewi, Gita Kholipah, Siti Ainul Kurniasari, Meli Alviana Kurniati, Pat Kurniawati, Lia Dahlia Kusuma, Muhammad Nanang Himawan kusumawardani, lita heni Laxmi Mustika Cakrawati Lohi Pani, Dintania Rambu Lovenia, Nia Made Sumarwati Maemunah, Sari Masru'ah, Iim Imas Masruah, Iim Imas Melina Melina, Melina Muharromah Pratiwi, Hikmi Mukhlis Mukhlis Muslihudin Muslihudin Mustopa, Acep Hidayatul Muszali, Rozaireen Nabila, Ananda Nawasul, Faid Nopitarose, Lia NOVA WAHYU PRATIWI, NOVA WAHYU Novita Anggraeni Nuraenah, Nuraenah Nurafriza, Widya Nurhadi, Maha Dewi Afifah Prasasi, Nabila Jihan Pudjiastuti, Sri Rahayu Putri, Khoirunnisa Rahmania Putri, Mas Fierna Janvierna Lusie Putri, Yollanda Ardhitya qohhar, wildan Retnani H. Retnani H., Retnani Rizvi, Fharisa Putri Rochadi Rochadi, Rochadi Romdanih, Romdanih Ronal Kurniawan Rubai, Windri Lesmana Rumiati, Sri Santoso D. Santoso D., Santoso Sari Astuti Sasmita, Ellen Rosyelina Septipane, Dwi shinta, dewi yudiana Shofia Amin Shorea Khaswarina Sidik Awaludin Silvera Devi Siregar, Deviana Ayushinta Sani Siti Masfiah SIWI PRAMATAMA MARS WIJAYANTI Sonata MS, Herix Sri Yanti Sridadi Sridadi Sulistiawati, Tiara suraya, nabella susi susi syahmardi yacob Syaifullah, Mhd Muslim Syamsul Arifin Titania Tjandrawati Nugroho Trianto, Endang Utami, Purwani Puji Veni Dayu Putri Vidi Ahmad Raafi Vioreza, Niken Wawan Setiawan wayan T Artama Widiati, Veronika Mutiara Wijaya, Habibi Hadi Wiryatun Lestariana, Wiryatun Yasmin, Alya Yuana Nurulita Yulyanti, Fitri Yunita Sari Yusmarini Yusmarini Zahra Setiawan, Binta Febriana Zona Octarya Zuchra Helwani, Zuchra