Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue
article
Most familial dysbetalipoproteinemic patients are E2/E2 homozygotes for the apolipoprotein E (apoE) polymorphism, whereas patients with the E4/E2 or E3/E2 phenotype are very rare. Three out of 41 dysbetalipoproteinemic patients from our lipid clinic appeared to be E3/E2 heterozygotes. ApoE protein phenotyping and DNA oligonucleotide hybridization techniques showed that all three patients exhibit an uncommon E2 variant that contains only one cysteine residue. These results suggest that, in contrast to the by far most frequently occurring E2(Arg158???Cys) allele, heterozygosity for this uncommon E2 allele may cause familial dysbetalipoproteinemia. Preliminary family studies suggest that this uncommon E2 allele cosegregates with familial dysbetalipoproteinemia.
Chemicals/CAS: cysteine, 4371-52-2, 52-89-1, 52-90-4; mercaptamine, 156-57-0, 60-23-1; Apolipoproteins E; Cysteine, 52-90-4
Chemicals/CAS: cysteine, 4371-52-2, 52-89-1, 52-90-4; mercaptamine, 156-57-0, 60-23-1; Apolipoproteins E; Cysteine, 52-90-4
Topics
apolipoprotein ecysteinemercaptamineoligonucleotidealleleblood and hemopoietic systemcase reportdiagnosisdna probeetiologyfamilial dysbetalipoproteinemiaheredityheterozygosityhumanhuman cellphenotypeApolipoproteins ECysteineHeterozygoteHumanHyperlipoproteinemia Type IIIIsoelectric FocusingPhenotypeSupport, Non-U.S. Gov'tVariation (Genetics)
TNO Identifier
230304
ISSN
00099163
Source
Clinical Genetics, 32(5), pp. 335-341.
Pages
335-341
Files
To receive the publication files, please send an e-mail request to TNO Repository.