%0 Journal Article %1 citeulike:558634 %A Krul, E. S. %A Kinoshita, M. %A Talmud, P. %A Humphries, S. E. %A Turner, S. %A Goldberg, A. C. %A Cook, K. %A Boerwinkle, E. %A Schonfeld, G. %C Division of Atherosclerosis and Lipid Research Washington University School of Medicine, St. Louis, Missouri. %D 1989 %J Arteriosclerosis %K polymorphism apob %N 6 %P 856--868 %T Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. %U http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=2574033 %V 9 %X Two novel, distinct truncated forms of apolipoprotein B (apo B) designated as apo B-90 and apo B-40 were found in five members of a kindred with hypobetalipoproteinemia. Sodium dodecyl sulfate gels and immunoblots of plasma or low density lipoprotein (LDL) (d = 1.019 to 1.063 g/ml) of the affected members demonstrated the presence of one or both of the truncated apo B bands. Employing four monoclonal anti-LDL antibodies with defined regional specificities, we demonstrated that amino terminal epitopes of the truncated apo Bs were intact, but that 10% and 60%, respectively, of the carboxyl terminal regions were absent. Thrombin digestion of apo B-90 generated an abnormally small T2 fragment, confirming that approximately 550 amino acids had been deleted from the carboxyl terminus of apo B-100. Restriction fragment length polymorphism analysis and variable number of tandem repeat typing of the 3' flanking hypervariable region of the apo B gene made it possible to distinguish all four parental alleles and therefore to follow the inheritance of the apo B variants through the family. This pedigree analysis confirmed the inheritance of the apo B-90 and apo B-40 identified by monoclonal antibody binding studies. Siblings heterozygous for apo B-90 or apo B-40 exhibited greater than 65% lower concentrations of apo B-90 or apo B-40 relative to apo B-100 and had 5th percentile LDL cholesterol concentrations. Compound heterozygotes (apo B-90/apo B-40) had the lowest LDL levels, and their LDL particles were small in size.(ABSTRACT TRUNCATED AT 250 WORDS)

@article{citeulike:558634, abstract = {Two novel, distinct truncated forms of apolipoprotein B (apo B) designated as apo B-90 and apo B-40 were found in five members of a kindred with hypobetalipoproteinemia. Sodium dodecyl sulfate gels and immunoblots of plasma or low density lipoprotein (LDL) (d = 1.019 to 1.063 g/ml) of the affected members demonstrated the presence of one or both of the truncated apo B bands. Employing four monoclonal anti-LDL antibodies with defined regional specificities, we demonstrated that amino terminal epitopes of the truncated apo Bs were intact, but that 10% and 60%, respectively, of the carboxyl terminal regions were absent. Thrombin digestion of apo B-90 generated an abnormally small T2 fragment, confirming that approximately 550 amino acids had been deleted from the carboxyl terminus of apo B-100. Restriction fragment length polymorphism analysis and variable number of tandem repeat typing of the 3' flanking hypervariable region of the apo B gene made it possible to distinguish all four parental alleles and therefore to follow the inheritance of the apo B variants through the family. This pedigree analysis confirmed the inheritance of the apo B-90 and apo B-40 identified by monoclonal antibody binding studies. Siblings heterozygous for apo B-90 or apo B-40 exhibited greater than 65% lower concentrations of apo B-90 or apo B-40 relative to apo B-100 and had 5th percentile LDL cholesterol concentrations. Compound heterozygotes (apo B-90/apo B-40) had the lowest LDL levels, and their LDL particles were small in size.(ABSTRACT TRUNCATED AT 250 WORDS)}, added-at = {2006-07-07T01:10:50.000+0200}, address = {Division of Atherosclerosis and Lipid Research Washington University School of Medicine, St. Louis, Missouri.}, author = {Krul, E. S. and Kinoshita, M. and Talmud, P. and Humphries, S. E. and Turner, S. and Goldberg, A. C. and Cook, K. and Boerwinkle, E. and Schonfeld, G.}, biburl = {https://www.bibsonomy.org/bibtex/2ea0ca3bd97862e4c04fdb93d0ec2959e/biblio24}, citeulike-article-id = {558634}, interhash = {a61a17c0986707ac328076b0558aa490}, intrahash = {ea0ca3bd97862e4c04fdb93d0ec2959e}, issn = {0276-5047}, journal = {Arteriosclerosis}, keywords = {polymorphism apob}, number = 6, pages = {856--868}, priority = {2}, timestamp = {2006-07-07T01:10:50.000+0200}, title = {Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.}, url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve\&db=pubmed\&dopt=Abstract\&list_uids=2574033}, volume = 9, year = 1989 }