title: Characterization of human haptoglobin cDNAs coding for alpha 2FS beta and alpha 1S beta variants.
abstract: A human liver library, derived from a heterozygous (Hp2-1) donor, has been used to isolate cDNA clones coding for the haptoglobin (Hp) alpha 1S beta and alpha 2FS beta variants. DNA sequencing has shown that the two variants are identical except for the alpha F duplicated segment in Hp alpha 2FS beta. Four nucleotide changes have been found between the phenotypically different F and S regions of the Hp alpha 2 gene, resulting in an Asp,Lys/Asn,Glu substitution.
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D003062:Codon; D004247:DNA / Q000302:isolation & purification*; D014644:Genetic Variation; D006242:Haptoglobins / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000378:metabolism; D046911:Macromolecular Substances; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D003062:Codon; D006242:Haptoglobins; D046911:Macromolecular Substances; D012333:RNA, Messenger; D004247:DNA