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

✍ Scribed by Mara H. Hutz; A. M. Michelson; S. E. Antonarakis; S. H. Orkin; H. H. Kazazian

Publisher: Springer
Year: 1984
Tongue: English
Weight: 464 KB
Volume: 66
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00286604

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✦ Synopsis

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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