DETEKSI MUTASI SEKUEN EKSON 2 GEN BETA GLOBIN PADA PASIEN TALASEMIA BETA MAYOR DI RSUD DR. SOEROTO NGAWI DENGAN METODE POLYMERASE CHAIN REACTION SINGGLE STRAND CONFORMATION POLYMORPHISM

Febrianto, Yahya (2018) DETEKSI MUTASI SEKUEN EKSON 2 GEN BETA GLOBIN PADA PASIEN TALASEMIA BETA MAYOR DI RSUD DR. SOEROTO NGAWI DENGAN METODE POLYMERASE CHAIN REACTION SINGGLE STRAND CONFORMATION POLYMORPHISM. Tesis thesis, Universitas Setia Budi Surakarta.

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Abstract

Beta thalassemia is a hereditary blood disorder characterized by reduced HbE or β globin synthesis, in the unbalanced synthesis of globin chains decreases red blood cell production, and should be treated with regular blood transfusions. This study aims to determine the presence of mutations in exon 2 gene beta globin thalassemia patients using Sekuensing PCR-SSCP method, where 10 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, thePCR product of each region is done by SSCP and sequencing continuation Based on the results of research conducted can be concluded that PCR-SSCP Sekuensing method can know the type and location of mutations in exon 2 genes β globin on β thalassemia and on mutations exon 2 genes β globin was obtained in the Cd35 (delC) mutation in the subjects 1,3, 6,8 and 10, at the Cd37 (TGGTGA) sample 10 and the IVSII-16 (GC) region in the 2.5.7 , 9 and 10. Keywords: thalassemia, beta thalassemia, pcr

Item Type: Thesis (Tesis)
Uncontrolled Keywords: thalassemia, beta thalassemia, pcr
Subjects: R Medicine > RS Pharmacy and materia medica
Divisions: Fakultas Farmasi > Prodi S2 Farmasi
Depositing User: magdalena kartika ningsih
Date Deposited: 25 Feb 2019 03:07
Last Modified: 25 Feb 2019 03:07
URI: http://repository.setiabudi.ac.id/id/eprint/1008

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