DETEKSI MOLEKULAR PEMBAWA SIFAT BETA -THALASSEMIA DI DAERAH ISTIMEWA YOGYAKARTA
Thalassemia is a hereditary disorder with autosomal recessive inheritance pattern due to mutations in the gene that encoding the globin chain of hemoglobin formation. Mutations can occur in the α-globin and β-globin gene. In Indonesia, the number of thalassemia patients is increasi...
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| Main Authors: | , |
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| Format: | Theses and Dissertations NonPeerReviewed |
| Published: |
[Yogyakarta] : Universitas Gadjah Mada
2014
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| Subjects: | |
| Online Access: | https://repository.ugm.ac.id/131082/ http://etd.ugm.ac.id/index.php?mod=penelitian_detail&sub=PenelitianDetail&act=view&typ=html&buku_id=71525 |
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| Institution: | Universitas Gadjah Mada |
| Summary: | Thalassemia is a hereditary disorder with autosomal recessive inheritance pattern due to
mutations in the gene that encoding the globin chain of hemoglobin formation. Mutations
can occur in the α-globin and β-globin gene. In Indonesia, the number of thalassemia
patients is increasing, and the number of carriers of thalassemia trait predicted 3-10 % of
the total population with a prevalence of β-thalassemia is higher than α-thalassemia.
World Health Organization launched a global strategy as preventive measures and to
control the number of people with thalassemia. One of the strategy is the carrier screening
of thalassemia. There were 21 individuals who showed indications of β-thalassemia
carrier of the 96 participants thalassemia screening based on the results of haematological
test. This study aims to perform molecular detection using polymerase chain reactionsingle strand corformation polymorphism (PCR-SSCP) as a confirmatory test of the
results of haematological test. DNA was isolated from the blood of each individual that
indicated of β-thalassemia carrier from screening results of Yayasan Thalassemia
Indonesia/Perhimpunan Orangtua Penyandang Thalassemia Indonesia (YTI/POPTI)
Yogyakarta and Faculty of Biology Universitas Gadjah Mada (UGM) in 2012 and 2013.
Isolated DNA then amplified using specific primers on four targets HBB gene sequences.
Results of PCR then analyzed by polyacrylamide gel SSCP method. Interpretation of the
data is done by describing the results of SSCP bands by comparing the difference in
migration distance of individual single stranded DNA unexpectedly carriers of β-thalassemia trait with normal individuals. The results showed that there were 18
individuals detected a mutation in the HBB gene region I, four individuals have mutations
in the HBB gene region II and 6 individuals have mutations in the HBB gene IV region.
PCR-SSCP can be used as a confirmatory test methods of haematological examination of
the carrier of the β-thalassemia. |
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