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KMID : 1100220050040010024
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Dementia and Neurocognitive Disorders
2005 Volume.4 No. 1 p.24 ~ p.27
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Lack of H2 Haplotype of MAPT and Saitohin Q7R Polymorphism in Korean Neurodegenerative Disorders Patients and Controls
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Jin Hee-Jin
Ahn Soo-Jeong
Kim Yun-Joong
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Abstract
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Background: Tau gene (MAPT) is implicated in several neurodegenerative disorders. Recently Saitohin gene located within intron 9 of MAPT was identified. It is controversial whether Q7R polymorphism of the Saitohin gene is overrepresented in Alzheimer’s disease or in Progressive supranuclear palsy, and allelic frequencies vary considerably depending on ethnic groups.
Methods: We analyzed MAPT haplotype and Saitohin Q7R polymorphism in Parkinson’s disease, Progressive supranuclear palsy, and Alzheimer’s disease to investigate whether MAPT haplotype and/or Q7R polymorphism of the Saitohin gene is associated with neurodegenerative disorders in Korean population. A case-control association study comparing genotype and allelic frequencies was done in thirty four Parkinson’s disease, eleven Alzheimer’s disease, eight Progressive supranuclear palsy, and one hundred healthy control subjects. MAPT haplotype and Q7R polymorphism of the Saitohin gene was determined by PCR and restriction digestion of PCR products.
Results: Unlike other reports in Western countries, MAPT haplotype was H1/H1 in all samples tested, and neither Q7R polymorphism of Saitohin gene, nor H2/H2 haplotype was identified.
Conclusion: These findings suggest that interpretation of H1/H1 haplotype in diagnosing a neurodegenerative disorder should be cautious depending on ethnic groups.
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KEYWORD
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Tau, Haplotype, Saitohin, Alzheimer’s disease, Parkinson’s disease, Progressive supranuclear palsy
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