Detection of ADAM33 Gene Variants Using Sanger Sequencing

Kencono Viyati Suwardji; Kinasih Prayuni; Sri Hastuti Andayani; Yenni Zulhamidah; Achmad Sofwan; Lilah Muflihah; Ronike Yunus; Junaefi Junaefi; Ijun Judasah

doi:10.33476/ms.v10i2.3962

Authors

Kencono Viyati Suwardji Department of Histology, Faculty of Medicine, YARSI University
Kinasih Prayuni Genetic Research Center, YARSI Research Institute, YARSI University
Sri Hastuti Andayani Department of Pediatric, Faculty of Medicine, YARSI University
Yenni Zulhamidah Department of Anatomy, Faculty of Medicine, YARSI University
Achmad Sofwan Department of Anatomy, Faculty of Medicine, YARSI University
Lilah Muflihah Cibitung Regional Public Hospital, Bekasi
Ronike Yunus Cibitung Regional Public Hospital, Bekasi
Junaefi Junaefi Cibitung Regional Public Hospital, Bekasi
Ijun Judasah

https://doi.org/10.33476/ms.v10i2.3962

Keywords:

Asthma, ADAM33 gene, single polymorphism nucleotide

Abstract

Asma adalah penyakit pernafasan yang ditandai oleh obstruksi saluran napas yang disebabkan oleh peradangan bronkus akut dan kronis. Gen disintegrin and metalloprotease 33 (ADAM33) merupakan gen terkait kerentanan terhadap asma dan diketahui memiliki lebih dari 300 polimorfisme. Studi meta-analisis melaporkan bahwa rs2280091, rs2787094, rs511898, rs2280089 dan rs2280090 memiliki asosiasi kuat dengan asma pada populasi Asia. Penelitian pendahuluan ini mengumpulkan 10 partisipan dengan penyakit asma dan 10 partisipan sehat untuk mengidentifikasi alel dan genotipe dari masing-masing polimorfisme menggunakan metode amplifikasi dan sekuensing Sanger. Hasil sekuensing menunjukkan bahwa 60% dari sampel yang diuji memiliki genotipe heterozigot untuk rs2280090 dan rs228091 baik pada sampel kasus maupun kontrol. Varian SNP rs2280096 menunjukkan bahwa frekuensi alel homozigot wildtype sebesar 60% baik pada sampel kasus maupun kontrol. Penelitian lanjutan perlu dilakukan untuk mengetahui apakah varian SNP tersebut memiliki aosisasi yang positif dengan penyakit asma.

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