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KMID : 1189119990030010015
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대한의학유전학회지
1999 Volume.3 No. 1 p.15 ~ p.20
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Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene
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Hong Seung-Ho
Song Jung-Han
Kim Jin-Q
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Abstract
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We have investigated the genetic variation in the human apo B mRNA editing protein (apobec-1) gene. Exon 3 of the apobec-1 gene was amplified by polymerase chain reaction. After detection of an additional band by single strand conformational polymorphism (SSCP) analysis, sequencing of the SSCP shift sample revealed a single-base mutation. The mutation was a CGG transversion at codon 80 resulting in a lleRMet substitution. Thes substitution was confirmed by restriction fragment length polymorphism analysis since a pvull site is abolished by the substitution. Population and family studies confirmed that the inheritance of the genotypes for apobec-1 gene polyomrphism is comtrolled by two codominant alleles (P1 and P2). A significant difference in plasma triglyceride was detected among the different apobec-1 genotypes in the CAD patients (P<0.05) Our study could provide the basis for elucidating the interaction between gentic variation of the apobec-1 gene and disorders related to lipid metabolism.
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KEYWORD
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apobec-1, genetic variation, Lipid level, Polymorphism, SSCP
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