DETEKSI MUTASI SEKUEN EKSON 1 GEN BETA GLOBIN PADA PASIEN TALASEMIA BETA MAYOR DI RSUD DR. SOEROTO NGAWI DENGAN METODE POLYMERASE CHAIN REACTION SINGGLE STRAND CONFORMATION POLYMORPHISM

Supriadi, Agus (2018) DETEKSI MUTASI SEKUEN EKSON 1 GEN BETA GLOBIN PADA PASIEN TALASEMIA BETA MAYOR DI RSUD DR. SOEROTO NGAWI DENGAN METODE POLYMERASE CHAIN REACTION SINGGLE STRAND CONFORMATION POLYMORPHISM. Skripsi thesis, Universitas Setia Budi Surakarta.

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Abstract

Beta-thalassaemia is an autosomal resesif haematological disorder resulting in a genetically deficient synthesis of the beta globin chain in haemoglobin. It is mostly caused by point mutations, a small deletions or insertions within the beta globin gene wich is located as a cluster on the short arm of chromosome 11. This research is a descriptive study that examines the type and location of mutations in beta globin gene of thalassemia beta major patienes. In addition, this study also examines the relationship of amino acid changes in the protein structure of beta globin. Methods used are isolation, polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) and beta globin gene sequencing of 9 samples thalassemia beta major patients using primer specific. Data analysis will be done by comparing the results of sequencing and the gene sequence that has existed in GeneBank using software GeneStudio and Mega 6.0. The results showed that mutations in exon1 beta globin gene at nucleotide 59 (cd2) changes (CATCAC) type silent mutations, at nucleotide 129 (Cd26) mutations from asam glutamate to lysine (GAGAAG) type missense mutation, at nuckleotide 129 (Cd26) mutation from asam glutamate to stop codon (GAGTAG) type nonsense mutation, and nuckleotide 147 (IVS1-nt5) mutations (GC) type splice site mutation. Mutation at Cd26 change amino acid in the protein structure of beta globin. Key words : thalassaemia beta major, exon 1, detection mutation, PCR-SSCP

Item Type:	Thesis (Skripsi)
Uncontrolled Keywords:	thalassaemia beta major, exon 1, detection mutation, PCR-SSCP
Subjects:	R Medicine > RS Pharmacy and materia medica
Divisions:	Fakultas Farmasi > Prodi S2 Farmasi
Depositing User:	magdalena kartika ningsih
Date Deposited:	23 Feb 2019 04:24
Last Modified:	17 Sep 2020 04:48
URI:	http://repo.setiabudi.ac.id/id/eprint/918

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