Prenatal diagnosis of pyruvate kinase deficiency

Luciano Baronciani, Ernest Beutler

Research output: Contribution to journalArticlepeer-review


Prenatal testing for pyruvate kinase deficiency is often requested by parents who already have an affected child. However, before the development of molecular biologic techniques there were no suitable diagnostic methods. We present here two cases in which the diagnosis was established, one using amniotic fluid cells, the other cord blood. Two different approaches were used. The first, using a direct method of PCR amplification and restriction endonuclease analysis, detected mutations in fetus genomic DNA. The second method, using two polymorphic sites linked to the PKRL gene, enabled us to establish which chromosome had been inherited from each parent.

Original languageEnglish
Pages (from-to)2354-2356
Number of pages3
Issue number7
Publication statusPublished - Oct 1 1994

ASJC Scopus subject areas

  • Hematology


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