J Genet Med.  1999 Dec;3(1):15-20.

Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene

Affiliations
  • 1Clinical Research Institute, Seoul National University Hospital, Seoul, Korea. jqkim@plaza.snu.ac.kr
  • 2Department of Clinical Pathology, Seoul National University Hospital, Seoul, Korea.

Abstract

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.

Keyword

apobec-1; genetic variation; lipid level; polymorphism; SSCP
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