Identification of an apolipoprotein(e) variant associated with type III hyperlipoproteinaemia in an indigenous Australian

Tate, JR, Hoffmann, MM, Lovelock, PK, Kesting, JB and Shaw, JT (2001) Identification of an apolipoprotein(e) variant associated with type III hyperlipoproteinaemia in an indigenous Australian. Annals of Clinical Biochemistry, 38 Pt 1: 46-53. doi:10.1258/0004563011900272


Author Tate, JR
Hoffmann, MM
Lovelock, PK
Kesting, JB
Shaw, JT
Title Identification of an apolipoprotein(e) variant associated with type III hyperlipoproteinaemia in an indigenous Australian
Journal name Annals of Clinical Biochemistry   Check publisher's open access policy
ISSN 0004-5632
Publication date 2001
Sub-type Article (original research)
DOI 10.1258/0004563011900272
Volume 38
Issue Pt 1
Start page 46
End page 53
Total pages 8
Editor S.P. Halloran
Place of publication London
Publisher Royal Society of Medicine Press Ltd
Collection year 2001
Language eng
Subject C1
321004 Endocrinology
730105 Endocrine organs and diseases (incl. diabetes)
Abstract As a result of testing for lipid and apolipoprotein(e) (apo E) phenotype status of an indigenous Australian community, an apo E variant associated with type III hyperlipoproteinaemia has been identified. Apo E phenotype was determined by analysis of VLDL by isoelectric focusing, and genotype on DNA amplified by polymerase chain reaction, using two different restriction enzyme isotyping assays. Phenotypes and genotypes were discordant in samples from two subjects and an abnormal-sized restriction fragment was also observed in their genotyping gel patterns. DNA sequencing studies revealed this was due to a single nucleotide deletion. 3817delC, at amino acid 136 on apo E. This resulted in a new reading frame and the premature termination of the apo E protein due to a stop codon (TGA) at nucleotide 4105. The variant apo E null allele showed a recessive mode of inheritance and, in combination with the E2 allele, resulted in the type III hyperlipoproteinaemic phenotype but when inherited with the E4 allele had no marked effect on plasma lipids.
Keyword Medical Laboratory Technology
E Deficiency
E Gene
Hyperlipidemia
Dyslipidemia
Polymorphism
Diagnosis
Sequence
Mutation
Patient
Plasma
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Tue, 14 Aug 2007, 15:20:21 EST