Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome

Mara H. Hutz, A. M. Michelson, S. E. Antonarakis, S. H. Orkin, H. H. Kazazian

Research output: Contribution to journalArticle


Using a human phosphoglycerate kinase (PGK) cDNA probe, we have identified a common Pst I restriction site polymorphism on the human X chromosome in all ethnic groups studied. the polymorphic Pst I site was absent in 40.4% of 94 X chromosomes of unrelated subjects. Heterozygous females can only be detected by the combined use of a Pst I digest and a Xba I+Pst I digest due to the presence of autosomal and X-linked bands of the same size in simple Pst I digests. Since 48% of females are heterozygotes for the Pst I polymorphism, this site can serve as a useful genetic marker on the long arm of X chromosome in man.

Original languageEnglish (US)
Pages (from-to)217-219
Number of pages3
JournalHuman genetics
Issue number2-3
StatePublished - Apr 1 1984


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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