Deteksi Molekuler Ekson 3 Gen Beta Globin pada Pasien Beta Talasemia Mayor di RSUD DR. Soeroto Ngawi menggunakan Metode Polymerase Chain Reaction- Single Strand Conformation Polimorfism

Huda, Choirul and Indrayati, Ana (2019) Deteksi Molekuler Ekson 3 Gen Beta Globin pada Pasien Beta Talasemia Mayor di RSUD DR. Soeroto Ngawi menggunakan Metode Polymerase Chain Reaction- Single Strand Conformation Polimorfism. Jurnal Farmasi Indonesia, 16 (1). pp. 24-33. ISSN 1693-8615

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Abstract

Talasemia merupakan penyakit genetik yang menyebabkan gangguan sintesis rantai globin, komponen utama molekul hemoglobin. Sintesis rantai globin yang tidak seimbang menyebabkan penurunan produksi sel darah merah. Penelitian ini bertujuan mengetahui adanya mutasi pada ekson 3 gen beta globin pasien talasemia menggunakan metode PCR. Sebanyak 5 sampel diisolasi DNAnya dan dilanjutkan amplifikasi menggunakan primer forward 8 dan primer reverse 9 dengan target sebesar 214 bp. Hasil amplifikasi dielektroforesis, disekuensing dan dianalisis jenis mutasinya dengan metode SSCP. PCR-SSCP dapat digunakan untuk menganalisis terjadinya mutasi pada ekson 3 gen beta globin. Hasil penelitian menunjukkan bahwa, dari kelima sample yang dianalisa tidak ditemukan mutase pada ekson 3 gen beta globin. Kata kunci : talasemia, exon 3, PCR-SSCP Abstract Talasemia is a genetic disease that causes globin chain synthesis disorder, a major component of the hemoglobin molecule. With the synthesis of unbalanced globin chains will decrease the production of red blood cells. This study aims to determine the presence of mutations in exon 2 gene beta globin thalassemia patients using PCR method, where 5 samples in DNA isolation and continued PCR amplification, the amplification result of electrophoresis region 2 beta globin gene Region II is the result of amplification of primary 4 and primer primer reverse 5 with a target of 350 bp, on PCR there is amplification or doubling of the desired DNA sequence based on the primary selection for the reaction, the PCR product of each of these regions which is subsequently performed by SSCP. PCR-SSCP could analysis the mutation in exon 3 beta globin genes. In the PCR-SSCP result, there was no mutation in region 4 exon 3 in five samples but probably there was mutation in another regions. Keywords: thalassemia, beta thalassemia, pcr

Item Type:	Article
Uncontrolled Keywords:	talasemia, exon 3, PCR-SSCP
Subjects:	R Medicine > R Medicine (General) R Medicine > RM Therapeutics. Pharmacology R Medicine > RS Pharmacy and materia medica
Divisions:	Program Studi > S1 Farmasi
Depositing User:	Surya Hadi Prasetyo
Date Deposited:	01 Dec 2022 06:47
Last Modified:	01 Dec 2022 06:47
URI:	http://repository.stikes-kartrasa.ac.id/id/eprint/116

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