title: Novel α2 gene deletion (c.349_359 del GAGTTCACCCC) identified in association with the -α3.7 deletion.
abstract: We report a novel α2 gene mutation identified in compound heterozygosity with the common -α(3.7) deletion. The mutation (c.349_359 del GAGTTCACCCC), causes a frameshift after codon α115 with the predicted extension of the αchain from 141 to 166 residues. The new polypeptide would be expected to have a mass of 17,463 Da, but no such product was detected in hemolysates, confirming the mutation's thalassemic phenotype. Mechanistically, the deletion is probably caused by replication slippage during DNA synthesis as the sequence is bracketed by a CC repeat. The lack of protein expression is probably caused by loss of critical binding sites to the chaperone, α Hb stabilizing protein (AHSP).
authors: Canterbury Health Laboratories, Christchurch, New Zealand. steve.brennan@otago.ac.nz
authors: Stephen O
authors: SO
authors: Brennan
authors: Tim
authors: T
authors: Chan
authors: Jaine
authors: J
authors: Duncan
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D013789:Thalassemia / Q000235:genetics; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins