Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene.
- Author:
Seung Ho HONG
1
;
Jung Han SONG
;
Jin Q KIM
Author Information
1. Clinical Research Institute, Seoul National University Hospital, Seoul, Korea. jqkim@plaza.snu.ac.kr
- Publication Type:Original Article
- Keywords:
apobec-1;
genetic variation;
lipid level;
polymorphism;
SSCP
- MeSH:
Alleles;
Apolipoproteins B*;
Codon;
Exons*;
Genetic Variation*;
Genotype;
Humans*;
Lipid Metabolism;
Plasma;
Polymerase Chain Reaction;
Polymorphism, Restriction Fragment Length;
Polymorphism, Single-Stranded Conformational;
RNA, Messenger*;
Triglycerides;
Wills
- From:Journal of Genetic Medicine
1999;3(1):15-20
- CountryRepublic of Korea
- Language:English
-
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.
