Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia

L. Baronciani, E. Beutler

Research output: Contribution to journalArticlepeer-review


The intron sequences of the human L-type pyruvate kinase gene (PKLR) were determined by using primers selected from the known cDNA sequence. Oligonucleotide primers for these determined intron sequences were used to sequence the exons. When this technique was applied to the DNA of 10 unrelated patients with pyruvate kinase deficiency, the following eight different mutations in the coding region were detected: deI391-393, A401, C464, G721, A1076, T1456, T1484, A1529. The A1529 mutation was found repeatedly in unrelated individuals, even in the homozygous state. The context with respect to a polymorphism at nt 1705 was compatible with a single origin for this mutation, and it may represent a balanced polymorphism. In normal subjects, five differences from the published cDNA sequence were documented.

Original languageEnglish
Pages (from-to)4324-4327
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number9
Publication statusPublished - 1993

ASJC Scopus subject areas

  • General
  • Genetics


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