Deteksi Mutasi Langka, Delesi 619 Bp, Pada Gen Beta-Globin Dari Etnis Melayu Mahasiswa Fakultas Kedokteran Universitas YARSI

Kenconoviyati Kenconoviyati • Kinasih Prayuni • Rw Susilowati • Rika Yuliwulandari • Abdul Salam M. Sofro
Journal article YARSI medical Journal • August 2015 Indonesia

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(Bahasa Indonesia, 9 pages)

Abstract

Beta-thalassemia merupakan gangguan hematologis autosomal yang secara genetis mengakibatkan berkurangnya sintesis beta-globin di hemoglobin. Beta-talasemia sebagian besar disebabkan oleh mutasi titik, insersi atau delesi dalam gen beta-globin yang terletak pada lengan pendek kromosom 11. Organisasi Kesehatan Dunia (WHO) memperkirakan terdapat sekitar 1,5% dari populasi global (80-90 juta orang) adalah pembawa ?-thalassemia. Tidak ada studi komprehensif untuk mendeteksi pembawa beta-thalassemia di Indonesia, terutama untuk mutasi delesi 619 bp, yang mencakup ekson 3 dan memiliki prevalensi yang tinggi. Kami menggunakan metode gap-PCR yang di-kombinasikan dengan metode elektroforesis gel untuk memper-kirakan adanya mutasi delesi 619 bp pada 48 siswa Fakultas Kedokteran Universitas YARSI dengan etnis Melayu. Analisis Blast hasil sekuensing dari ketiga sampel menunjukkan bahwa terdapat similaritas 98% antara hasil amplifikasi dengan ke daerah gen beta-globin pada kromosom 11 (No. Aksesi U01317.1). Berdasarkan hasil visualisasi elektroforesis gel, semua produk PCR dari 48 sampel, menunjukkan bahwa semua sampel tidak membawa mutasi delesi 619 bp yang ditunjukkan dengan ukuran produk PCR yang sama dari semua sampel, yaitu berukuran 1.457 bp dan 2.291 bp dari PCR I dan 1.212 bp dari PCR II.Beta-thalassaemia is an autosomal haematological disorder resulting in a genetically deficient synthesis of the ?-globin chain in haemoglobin. It is mostly caused by point mutations, a small deletions or insertions within the beta-globin gene which is located as a cluster on the short arm of chromosome 11. The World Health Organization has estimated that about 1.5% of the global population (80 to 90 million people) were carriers of ?-thalassemia. There are no comprehensive study to detect carrier of ?-thalassemia in Indonesia especially for 619 bp deletion mutation, which encompasses exon 3, that has greater prevalence. We used gap-PCR combined with gel electrophoresis methods to roughly screen the presence of major indel mutation in 48 Medical Faculty, Universitas YARSI students with Malay ethnic. To validate whether the PCR product obtained is the beta-globin gene, a direct sequencing of 3 PCR products were performed. The Blast analysis of the sequence was also done using NCBI database. The result showed that the PCR products obtained in this study showed 98% identity to human beta-globin gene region on chromosome 11 (No. Acc. U01317.1). In the electrophoresis of all PCR products of 48 samples, the result showed that all the samples did not carry any major indel mutation showing by the presence of similar length of PCR products in gel electrophoresis, which has 1.457 bp and 2.291 bp product from PCR I and 1.212 bp product from PCR II.

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YARSI medical Journal

Jurnal Kedokteran YARSI (English: YARSI Medical Journal) publishes novel research findings and li... see more