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

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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.

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Correspondence to H. H. Kazazian Jr..

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Hutz, M.H., Michelson, A.M., Antonarakis, S.E. et al. Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome. Hum Genet 66, 217–219 (1984). https://doi.org/10.1007/BF00286604

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  • Internal Medicine
  • Ethnic Group
  • Metabolic Disease
  • Restriction Site
  • Genetic Marker