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Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene
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  • Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene
  • Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene
저자명
Hong. Seung-Ho,Song. Jung-Han,Kim. Jin-Q
간행물명
Journal of genetic medicine
권/호정보
1999년|3권 1호|pp.15-19 (5 pages)
발행정보
대한의학유전학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

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. This 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 polymorphism is controlled 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 genetic variation of the apobec-1 gene and disorders related to lipid metabolism.