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Haplotypes Analysis Related to the Mutation in (Analisis Haplotip Dikaitkan dengan Mutasi pada Thalassemia Beta)

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Beta-thalasemia is mainly caused by point mutation of Beta-gene. There are more than 130 mutations, while only a little more than 20 haplotypes in Beta-gene. Many types of mutation are associated with one haplotype. On the other hand, one type of mutation may be associated with more than one chromosome haplotypes. The association of mutation and haplotype raises many questions. An analysis of haplotype has proved to be very useful to discover many aspects of thalassemia. The occurence of certain in a population might be predicted from the common haplotype has been used to answer the question whether a certain mutation has multiple or single origin; for example the multiple origin of Beta E-gene in population and the single origin of codon 39m(CAG to became TAG) are associated with nine different haplotypes in Sardinia. It is suggested that haplotype probably influence the manifestation of resulting in thalassemia intermedia.

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Berkala Ilmu Kedokteran,27(3)1995:165-171

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: ., 1995

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thalassemia
haplotypes

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