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J. Biochem, 1988, Vol. 104, No. 1 48-52
© 1988 Japanese Biochemical Society

research-article

Analysis of Apolipoprotein E5 Gene from a Patient with Hyperlipoproteinemia1

Shoji Tajima, Taku Yamamura and Akira Yamamoto

Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute Suita, Osaka 565

We have isolated and analyzed apolipoprotein E5 gene from a patient with hyperlipo proteinemia. Apolipoprotein E5 is a variant of apolipoprotein E with two additional units of positive charge and smaller apparent molecular weight than apolipoprotein E3, which is the major isoform of apolipoprotein E. The heterozygous gene of apolipoprotein E5/3 from the patient was cloned into {lambda} phage. The cloned apolipoprotein E genes were subclonedinto a murine retrovirus shuttle vector and were expressed. One out of four clones expressed apolipoprotein E5. The analysis of the nucleotide sequence of the exons and exon-intron boundary regions has shown a G to A substitution in the 18th nucleotide from the 5'-end of the third exon. This single base substitution changes the amino acid residue Glu to Lys at the third position from the amino-terminus of the mature protein, and gives twoadditional units of positive charge to the molecule.

1 This work was supported in part by a Grant-in-Aid for Scientific Research (No. 61440053) from the Ministry of Education, Science and Culture of Japan, and a grant from Takeda Medical Research Foundation


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