Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome
- 1 April 1984
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 66 (2-3) , 217-219
- https://doi.org/10.1007/bf00286604
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.Keywords
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