DETEKSI MUTASI SEKUEN EKSON 3 GEN BETA GLOBIN DENGAN METODE POLYMERASE CHAIN REACTION-SINGGLE STRAND CONFORMATION POLYMORPHISM PADA PASIEN TALASEMIA BETA MAYOR DI RSUD DR. SOEROTO NGAWI

Huda, Choirul (2018) DETEKSI MUTASI SEKUEN EKSON 3 GEN BETA GLOBIN DENGAN METODE POLYMERASE CHAIN REACTION-SINGGLE STRAND CONFORMATION POLYMORPHISM PADA PASIEN TALASEMIA BETA MAYOR DI RSUD DR. SOEROTO NGAWI. Tesis thesis, Universitas Setia Budi Surakarta.

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Abstract

Thalassemia is an autosomal recessive genetic disorder characterized by decreased hemoglobin levels in the blood caused by globin chain synthesis disorder. This study aims to determine the mutation, the location of mutations on the β-globin gene and the effect of mutations on thalassemia patients. PCR (Polymerase Chain Reaction) is a methodto replicate DNA enzymatically without using organism. PCR process consists of three stages, namely denaturation of DNA templates, primary annealing, and polymerization of DNA chain. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) is used to assume mutations in DNA fragments that will affect the conformation of a single stranded DNA fragment even though the difference is only one nucleotide. Analysis of mutation, type of mutation, amino acid sequence change used gene studio software and mega software. The result of this study generated all samples and K + samples had two bands with the same pattern intheregionIV(exonIII)beta-globingene. Based on SSCP analysis,thisresult showed no indication of mutation in the sequence of the region. In this sequencing was merged between regions III and IV to minimize the number of sequencing reactions and also to determine the presence or absence of mutations in region III which is part of intron region 2 beta-globin gene..Based on the results of region III-IV alignment with sequencing obtained 1 mutationin the sample. The type of mutation found in region III is more precisely in the area of IVSII-666 or intron II in the 666th nucleotide number. There is substitution of C-T base in the samples 7 and 10. Substitution in intron region is called SNP (Single Nukleotide Polymorphism). Key words ; Thallassemia, PCR-SSCP (Polymerase chain reaction-single strand conformation polymorphism), SNP (Single Nukleotide Polymorphism).

Item Type: Thesis (Tesis)
Uncontrolled Keywords: Thallassemia, PCR-SSCP (Polymerase chain reaction-single strand conformation polymorphism), SNP (Single Nukleotide Polymorphism).
Subjects: R Medicine > RS Pharmacy and materia medica
Divisions: Fakultas Farmasi > Prodi S2 Farmasi
Depositing User: magdalena kartika ningsih
Date Deposited: 23 Feb 2019 04:28
Last Modified: 23 Feb 2019 04:28
URI: http://repository.setiabudi.ac.id/id/eprint/949

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