title: Identification of an unusual deletion within homologous repeats of human reticulocyte beta-spectrin and probable peptide polymorphism.
abstract: We screened two different human reticulocyte cDNA libraries with beta-spectrin(beta Sp)-specific polyclonal antibodies and with our original radiolabeled human BSP cDNA probe (encoding beta Sp). Of the 20 independent clones, the largest had about a 2.5-kb insert corresponding to the deduced amino acid (aa) sequence of the beta-7 to beta-14 repetitive segments. Among these segments, segment 12 was 7 aa shorter than the other repetitive segments. We showed that this truncation was not a result of (i) cloning artifact, (ii) alternate splicing, or (iii) common genomic polymorphism by additional examination of 14 individual human chromosomes. Recently, another laboratory described the BSP nucleotide (nt) sequence overlapping partially with our sequence. These overlapping sequences were homologous with the exception of two nt differences at the positions 1342 and 1514. The discrepancy at nt 1342 changes the His to Arg. This newly derived probe has been used to find an additional example of BSP restriction fragment length polymorphism.
authors.affiliation: Division of Hematology, University of Alabama, Birmingham 35294.
authors.forename: S H
authors.initials: SH
authors.lastname: Yoon
authors.forename: C G
authors.initials: CG
authors.lastname: Kentros
authors.forename: J T
authors.initials: JT
authors.lastname: Prchal
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015139:Blotting, Southern; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D012156:Reticulocytes / Q000378:metabolism*; D012689:Sequence Homology, Nucleic Acid; D013049:Spectrin / Q000235:genetics*
chemical_list: D013049:Spectrin