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G6PD- Molecular basis - Molecular basis of G6PD deficiency...

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Molecular basis of G6PD deficiency Dr Narazah Mohd Yusoff Director, Human Genome Center, USM
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Introduction G6PD deficiency – one of the most common  inherited disorders, 400 million people affected  –tropical and subtropical countries Epidemiological and in vitro studies - selection  advantage during  Plasmodium falciparum   infection Most affected individuals asymptomatic,  however risk of acute haemolysis
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Genetics 1989 - more than 400 variants of G6PD  Different biochemical forms of the enzyme  exhibited, distinguished by different  electrophoretic mobility, kinetic properties.  Variants divided 5 classes according to the  residual enzyme activity based (WHO).  Mediterranean and African (A-) variants - by far  the most clinically significant. Enzyme activity scarcely detectable in the  Mediterranean type but close to normal in the  African variant. 
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Genetics Thus, latter variant is considered to be the  less severe form G6PD deficiency More recently, the dev.- new gene cloning  techniques and complementary DNA  sequencing techniques - identify the  precise mutation of variants   Many variants previously thought to be  unique have proved to be identical. 
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Genetics Majority of the variants - from a single  point-mutation resulting in amino acid  substitution in gene encoding for G6PD  located at the Xq28 region on the tip of the  long arm of the X- chromosome. 
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The G6PD gene
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