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Susmiati Susmiati
Fakultas Keperawatan Universitas Andalas
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Journal : Jurnal Kesehatan

 1 
Analysis of Allele Frequency Distribution Apoliprotein E Gene in Patients With Down Syndrome Trisomy 21 Malinda Meinapuri; Arni Amir; Eva Chundrayetti; 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 Achmad Wahdi ADEP JUNIKA Afriani Sandra Afrianti, Esi Agnes, Yeni Lufiana Novita Aisya Rahmadhanty Alimansur, Moh. Amir, Arni Arif, Yulastri Armayuni, Roza Arza, Putri Aulia Asrawati Asrawati Asrawati Nurdin Avit Suchitra Dally Rahman Darmawidyawati Darmawidyawati Deswita Deswita Deswita Dewi Dewi Dewi Murni Dewi Murni Dorisnita Dorisnita Dorisnita Dorisnita Dwi Apriadi efrida efrida Eko Winarti Elmi Elmi Emil Huraini Emil Huriani Endang Purwati Endriani Gusni Erik Irham Lutfi Etika , Arif Nurma Eva Chundrayetti Evasari, Diana Febby Irianti Deski Finny Fitry Yani Fitri Dona Fitri Mailani Fitriana Fitriana Fitriatul Munnawarroh Gusni, Endriani Hafifatul A Rahmy Hafifatul Auliya Rahmy Hamelda Fajri Weirpa Hamzah Hamzah Hanni Oktavia Rahayu Hanny Hafiar Hanny Oktavia Rahayu Hayati, Masni Helmaizar Helmaizar Helmizar HENDRIA PUTRA Heppi Sasmita Hurriya Alzahra Idola Perdana Sulistyoning Suharto Ilfa Khairina Indah Jayani Indah Jayani Jaka Santosa, Jaka Karingga, Devangga Darma khusnul khotimah Kun Ika Nur Rahayu Lenggogeni, Devia Putri Leni Merdawati Lestari, Nanda Wilda Lili Fajria Maisa, Esthika Ariany Malinda Meinapuri Mawaddah Mawaddah, Mawaddah Meicy Astuti Miftah Huljanah Mirasa, Yudied Agung Monika Trijuli Astuti Muliantino, Mulyanti Roberto Mustika, Hevy Muthamainah Muthamainah Muthmainnah Muthmainnah Neherta, Meri Nelwati Nelwati Nelwati, Nelwati Nice Rachmawati Nopita, Yanti Novita Agnes, Yeni Lufiana Nur Indrawaty Liepoto Nur Indrawaty Lipoeto Nur Rahayu, Kun Ika Oktarina, Elvi Puteri Nabilla Puteri, Zifriyanthi Minanda Putri, Nelvi Kurnia Putri, Zifriyanthi Minanda Rahmi Muthia Rahmiwati Rani Wahyuni Reni Prima Gusty Restu Arahman Melba Restu Sakinah Restu Sakinah Rias, Natan Riyena, Vilda Satria Eureka Nurseskasatmata Serly Suryana Sidaria, Sidaria Solly Aryza Sovia Susianty Sri Haryuni Sri Wahyuningsih Sulistyawati, Wiwin Sulistyoning Suharto, Idola Perdana Sulistyoning Suharto, Idola Perdana Testcia Arifin Testcia Arifin Virtuous Setyaka Widia Wati Wisdia Lola Erwinda Wisdia Lola Erwinda Wisdia Lola Erwinda Yanti Puspita Sari Yevri Zulfiqar Yosdedrison Yosdedrison Yulastri Arif Yulastri Yulastri Yunalia, Endang Mei Zifrianthi Minanda Putri Zifriyanthi Minanda Putri Zifriyanthi Zifriyanthi Zifriyanthi Zifriyanthi Zifriyanti Minanda Putri