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A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa)
associated with hereditary hemolytic anemia
S Hayette, D Dhermy, ME dos Santos, M Bozon, D Drenckhahn, N Alloisio, P Texier, J Delaunay and L Morle
CNRS URA 1171, Institut Pasteur de Lyon, France.
We studied a 26-year-old Portuguese patient with recessively transmitted
hereditary hemolytic anemia. Protein 4.2 was absent from red cell ghosts by
Western blotting. Although the 4.2 mRNA was not detected in Northern blots,
it was shown to be present by a procedure based on nested reverse
transcription-polymerase chain reaction (RT- PCR). Partial nucleotide
sequencing disclosed a one-nucleotide deletion at nt 264 (or 265): AAG
GTG-->AAG TG, in codon 88 (or 89) belonging to exon 2. This change,
defining allele 4.2 Lisboa, placed in frame the nonsense triplet that
normally overlaps codons 136 and 137 (GTG ACC). This mutation, which
abolishes an EcoNI site, was also found in the gene of the proband
(homozygous state), her parents, and her brother (heterozygous state).
Apart from anemia, the patient was free of clinical manifestations.
Platelet membranes were also investigated using Western blots. Antibodies
to red cell protein 4.2 showed a doublet (72 and 70 kD) both in the
controls and the patient. This finding raises an interesting question
concerning the relationship between this doublet and erythroid protein 4.2.
Volume 85,
Issue 1,
pp. 250-256,
01/01/1995
Copyright © 1995 by The American Society of Hematology
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