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All Journal Jurnal Gizi dan Pangan Jurnal Kesehatan Andalas Paediatrica Indonesiana Jurnal Profesi Medika: Jurnal Kedokteran dan Kesehatan Indonesian Journal of Obstetrics & Gynecology Science Buletin Ilmiah Nagari Membangun Majalah Kedokteran Andalas Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) Jurnal Ilmu Kesehatan Indonesia (JIKSI) Jurnal Penyakit Dalam Indonesia Jurnal Sains, Teknologi dan Kesehatan Jurnal Kesehatan
Efrida Efrida
Bagian Patologi Klinik Dan Kedokteran Laboratorium, Fakultas Kedokteran, Universitas Andalas, Padang
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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 A.A. Ketut Agung Cahyawan W Ade Asyari Afriwardi Afriwardi Aghnia Jolanda Putri Akmal M. Hanif Al Hafiz Almurdi Almurdi Alya Binti Azmi Amirah Zatil Izzah Andani E Putra Andani Eka Putra Angela Lovena Anggun Hatika Riska Arnelis Arnelis Arni Amir Asman Manaf Asterina Asterina Bakma, Isphandra Besri, Hanifa Zahra Bestari Jaka Budiman Desmawati Desmawati Desywar Desywar Desywar Desywar Desywar Desywar Desywar, Desywar Devi Gusmaiyanto Dia Rofinda, Zelly Dia Dian Eka Putri Dian Eka Putri, Dian Eka Dian Pertiwi Dian Pertiwi Dona Mirsa Putri Donaliazarti Donaliazarti Dwi Amelisa Edwina Dwi Yulia Dwitya Elvira, Dwitya Effy Huriyati Efiariza, Nurul Navela Ega Purnamasari Eka Musmita Sabebegen Eka Nofita Elisda Yusra Ellyza Nasrul Ellyza Nasrul Elmatris Sy Elvinawaty Elvinawaty Endang Primawaty Harahap Endrinaldi Eryati Darwin Eti Yerizel Ety Yerizel Eugeny Alia Eva Chundrayetti Fachzi Fitri Fadil Oenzil Fathiyyatul Khaira, Fathiyyatul Febria Prima Utari Finny Fitry Yani Fiona Septi Mulya Fitrina, Dewi Wahyu Hanifah Maani Hanny Hafiar Harahap, Endang Primawaty Hasmiwati Hendra Permana Herman, Deddy Husni Husni Husnil Kadri Ida Parwati Ike Sri Redjeki Ilhamifithri Ilhamifithri Ilmiawati, Ilmiawati Ima Septia Indah Fitriani Isphandra Bakma Jacky Munilson Jamsari Jamsari Kartika Aulia Sari Lestari, Rahmi Lillah Lillah Malinda Meinapuri Masrul Basyar Masrul Syafri Mefri Yanni Mega Redha Putri Mira Purwinanty Mohamad Reza Mulya, Fiona Septi Nanda Oktavia Narlis Narlis Netti Suharti Nirza Warto Novialdi . Nur Afrainin Syah Nur Indrawati Lipoeto Nur Indrawaty Lipoeto Nuzulia Irawati Oktavia, Nanda Prihandani, Tuty Prima O Damhuri Puja, Annisa Fitria Putri Yuriandini Yulsam Rahmadina, Rahmadina Rahmatini . Ramadhani, Jihan Regina Ivanovna Rendi Dwi Prasetyo Reni Lenggogeni Rikarni Rikarni Rike Puspasari Rismawati Yaswir Rizanda Machmud Rizqy Auliya Lubis Rossy Rosalinda Roza Kurniati Rudy Afriant Russilawati, Russilawati Sabebegen, Eka Musmita Saptino Miro Sari, Kartika Aulia Selfi Renita Rusjdi Siti Nurhajjah Sofitri Sofitri Suchi Ilmi Herman Sukri Rahman Susmiati Susmiati Syarifah Tridani Fitria Trisuliandre, Muhammad Rizki Tuty Prihandani Ulya Uti Fasrini Vanny Syafitri Vika Rahma Velina Yan Edward Yulia, Dwi Yulistini, Yulistini Yusrawati Yusrawati Yusri Dianne Jurnalis Yustini Alioes Zahira, Aisyah Dhia Zelly Dia Rofinda Zhuhra, Rahma Tsania