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All Journal Jurnal Ilmu Kedokteran (Journal of Medical Science) Medical Journal of Indonesia Jurnal Kesehatan Andalas Jurnal Kebidanan JIMKesmas (Jurnal Ilmiah Mahasiswa Kesehatan Masyarakat) The Southeast Asian Journal of Midwifery Jurnal Endurance: Kajian Ilmiah Problema Kesehatan Buletin Ilmiah Nagari Membangun Oto Rhino Laryngologica Indonesiana Majalah Kedokteran Andalas Jurnal Ilmu dan Teknologi Kesehatan Health and Medical Journal Contagion: Scientific Periodical Journal of Public Health and Coastal Health Psychosophia: Journal of Psychology, religion, and humanity Community Development Journal: Jurnal Pengabdian Masyarakat Poltekita: Jurnal Pengabdian Masyarakat Warta Pengabdian Andalas: Jurnal Ilmiah Pengembangan Dan Penerapan Ipteks JOURNAL LA MEDIHEALTICO Jurnal Ilmiah Kesehatan (JIKA) Healthy Tadulako Journal (Jurnal Kesehatan Tadulako) Jurnal Pengabdian Inovasi dan Teknologi Kepada Masyarakat The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy JUBIDA-Jurnal Kebidanan Indonesian Journal of Advanced Research (IJAR) Jurnal Riset Ilmiah Seroja Husada: Jurnal Kesehatan Masyarakat Jurnal Sains, Teknologi dan Kesehatan Jurnal Ilmu Psikologi dan Kesehatan Frontiers on Healthcare Research Jurnal Kesehatan
Arni Amir
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Journal : jurnal kesehatan

 1 
Analysis of Allele Frequency Distribution Apoliprotein E Gene in Patients With Down Syndrome Trisomy 21 Meinapuri, Malinda; Amir, Arni; Chundrayetti, Eva; efrida, efrida; Susmiati, Susmiati
Jurnal Kesehatan - STIKes Prima Nusantara Vol 15 No 1 (2024): Jurnal Kesehatan
Publisher : LPPM Universitas Prima Nusantara Bukittinggi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35730/jk.v15i1.1171

Abstract

Background: Down syndrome is a global health problem of particular concern because people with Down syndrome have a wide variety of clinical disorders and are one of the causes of mental retardation and serious physical growth disorders.Down syndrome can occur at all socioeconomic, ethnic and demographic levels. The incidence of Down Syndrome will increase as the mother's age increases at the time of pregnancy and the incidence varies in different populations: 1 in 319 to 1 in 1000 live births. Each year, an estimated 3,000 to 5,000 children are born with Down syndrome. The APOE gene is located in the long arm (q) of chromosome 19 at position 13.2 (19q13.2). The APOE gene consists of four exons and three introns, a total of 3597 base pairs. In melanocyte cells APOE gene expression can be regulated by MITF. APOE is a form of polymorphic, which translates into three gene alleles: normal: allele ?3 and dysfunctional: allele ?2 and allele ?4.  The polymorphism of the APOE gene had a strong effect on the level of allele production, a high concentration of APOE indicated that the production of ?4 allele was increased and a low concentration of APOE was associated with the production of ?2 allelePurpose:To Analyze of Allele Frequency Distribution Apoliprotein E Gene  in Patients With Down Syndrome Trisomy  21Methods: This research is an analitic observasional study with a comparative  study design. The sample used was the result of DNA extraction patients with Down's Syndrome Trisomy 21 as many as 33 samples and 33 controls stored in the Biomedical Laboratory, Faculty of Medicine, Andalas University, Padang, Indonesia. The next step is to examine the APOE gene polymorphisms using PCR and sequencing techniques.Results: Samples of Down syndrome patients had variations in the distribution of alleles, where alleles ?4 and ?2 were found even though the allele frequency ?3 was still the highest allele frequency. Meanwhile, in the samples representing the normal control population, ?3 and ?2 alleles were found and no ?4 allele was found. Although the allele is not associated with Down Syndrome, Down Syndrome sufferers have a 2.26 times greater risk for e2 and e4 alleles than e3.Conclusion: There was a difference in the frequency distribution pattern of the APOE gene allele in patients with Down Trisomy Syndrome 21 compared to the control. 
Co-Authors - Evitayani Abi Ghofari Siregar, Muhammad Ade Asyari Adeline Sacharissa Firdaus Afdal Afriwardi Afriwardi Ahmad Kurniawan Akbar Aisyah Elliyanti Alfina, Nabila Amri, Siti Salsabilla Andani Eka Putra Andi Friadi Ariadapa Rahadi, Didan Aziza, Zulva Basyir, Vaulinne Berliana Irianti, Berliana Berliani, Hasvia Cimi Ilmiawati, Cimi Citra Manela Daan Khambri Darmayanti Siregar Dedi Afandi Defrin, Defrin Defrin, Defrin Delfina, Delfina Delmi Sulastri Delmi Sulastri Desmawati Desmawati Desmawati Desmiwarti Desmiwarti Dessy Arisanty Dina Khaira Mizana Dolly Irfandy Dwiharyani, Yuli Efrida Efrida Elizabeth Bahar Ellyza Nasrul Endrinaldi Erda Mutiara Halida Erwani, Erwani Eryati Darwin Eti Yerizel Eva Chundrayetti Fadil Oenzil Faradila, Selvy Fatma Sri Wahyuni Fauzan, Rezky Fereshti Lailani Fergita, Agnestya Nurul Fika Tri Anggraini Finny Fitry Yani Firdawati Firdawati Fitrayeni Fitria, Henni Furqan, Muhammad Afif Hadya Gorga Hafizth, Hendi Haifa Wahyu Hamidah, Waldatul Hanum, Fathiya Juwita Hasmiwati Hillbertina, Noza Hudilla Rifa Karmia Humaira, Noni Ibrahim Ibrahim Ihsan, Indra Ilhami, Yose Ramda Indah Wahyuni Insani, Aldina Ayunda Irvandy, Dolly Joserizal Serudji Kamsiah Karmia, Hudilla Rifa Karmila, Hudila Rifa Kumagai, Hajime Lili Irawati Linosefa Linosefa Lisma Evareny Lismanto, Ferry Maharani, Rifty Zhafira Malinda Meinapuri Mardiah, Ainal Masrul Mayetti - Mayetti Mayetti Mega Ulfah Meilinda Agus, Meilinda Miftah Irramah Miranie Safaringga Mohammad Tegar Indrayana Muchtar, Masrul Muhammad Ilham Muhammad Reza Netti Suharti Netti Suharti, Netti Netty Suharti Ningrat, Rusmana Setia Noni Humaira Novirman Jamarun Nur Indrawaty Lipoeto Nurrizma, Delsy Nuzulia Irawati Ochy Putri Oea Khairsyaf Oktavia, Sri Olivia, Ivonne Pratama, Weno Putra, Bela Putri Sri Lasmini Putri, Mira Eka Raden Mohamad Herdian Bhakti Rafika Oktova Rahmadian, Rizki Rahmat Nurul Yuda Putra Rahmatina B Herman Rahmi Junaida Randa Novalino Rani Armalita Reza, Mohamad Rika Susanti Rina Rina Roslaili Rasyid Roza Silvia Rufi'i Saptino Miro, Saptino Saputri, Mona Sari, Maharani Permata Sari, Nissa Prima Sari, Nur Purnama Setiawan, Mentari Adinda Seto, Astari Siti Nurhajjah, Siti Suminta RS, Teresia Susmiati Susmiati Syahid MP, Miskah Indah Syahputra, Roni Eka Syamsir, Elmatris Syawqi, Rahmat Tri Astuti Tri Rahayuningsih Ulya Uti Fasrini Utama, Bobby Indra Vaulinne Basyir Vinda Dwi Apriora Yanti, Farah Sevnell Yanwirasti Yanwirasti Yuniar Lestari Yusrawati - Yusrawati Yusrawati Yusticia Katar, Yusticia Zahira, Ravenna Salva