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. 1984;66(2-3):217-9.
doi: 10.1007/BF00286604.

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

M H Hutz, A M Michelson, S E Antonarakis, S H Orkin, H H Kazazian Jr

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

M H Hutz et al. Hum Genet. 1984.

Abstract

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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References

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