title: Apolipoprotein E phenotypes and genotypes as determined by polymerase chain reaction using allele-specific oligonucleotide probes and the amplification refractory mutation system in children with insulin-dependent diabetes mellitus.
abstract: The frequency of apolipoprotein E (apo E) phenotypes and genotypes due to allelic variation at amino acids 112 and 158 was analysed in 50 children with type I diabetes. Phenotypes were determined by isoelectric focusing and genotypes by the technique of polymerase chain reaction using allele-specific oligonucleotide probes (PCR/ASO) and the amplification refractory mutation system (ARMS). Discrepancies between phenotypes and genotypes as assigned by PCR/ASO were observed in 12 (24%) cases and by ARMS in eight (16%) cases. Results revealed the apo E3/3 genotype, as assigned by ARMS, to be the most frequent one (70%), followed by apo E3/4 in 16%, apo E2/2 in 2%, apo E2/3 in 8%, apo E2/4 in 2% and apo E4/4 in 2% of the cases. Apo E3/4 genotype and phenotype were more frequently present in the children with type I diabetes as compared with the diabetic adults previously reported on.
authors.affiliation: Clinical Institute of Laboratory Diagnosis, Zagreb University School of Medicine, Croatia.
authors.forename: A
authors.initials: A
authors.lastname: Stavljenic-Rukavina
authors.forename: J
authors.initials: J
authors.lastname: Sertic
authors.forename: B
authors.initials: B
authors.lastname: Salzer
authors.forename: M
authors.initials: M
authors.lastname: Dumic
authors.forename: A
authors.initials: A
authors.lastname: Radica
authors.forename: K
authors.initials: K
authors.lastname: Fumic
authors.forename: A
authors.initials: A
authors.lastname: Krajina
mesh_terms: D000293:Adolescent; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005784:Gene Amplification; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D001057:Apolipoproteins E; D015345:Oligonucleotide Probes