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

• 발행기관: 대한의학유전학회
• 저자명: Seung Ho Hong Junghan Song Jin Q Kim
• 간행물 정보: 『대한의학유전학회지』제3권 제1호, 15~19쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 1999.12.30

영문 초록

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.

목차

INTRODUCTION

MATERIALS AND METHODS

RESULTS AND DISCUSSION

ACKNOWLEDGEMENT

REFERENCES

키워드

apobec-1 genetic variation lipid level polymorphism SSCP