title: The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2.
abstract: Using a cloned cDNA of apolipoprotein B-100 as hydridization probe, we have found high frequence polymorphisms in the apoB-100 gene involving sites for the restriction enzymes EcoRI, BamHI, and HindIII. The major EcoRI polymorphisms involved a 17 kb vs 15 kb variant. The incidence of the various phenotypes was estimated. In addition, other complex polymorphisms involving MspI and TaqI sites were also noted. [32P]-labeled apoB-100 cDNA was used as a probe in chromosome mapping studies to detect the human apoB-100 structural gene sequence in human-Chinese hamster and human-mouse cell hybrids. Southern blot analysis of 14 hybrids localized the gene to the short arm of human chromosome 2.
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D005796:Genes; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B