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.
Original language | English (US) |
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Pages (from-to) | 217-219 |
Number of pages | 3 |
Journal | Human genetics |
Volume | 66 |
Issue number | 2-3 |
DOIs | |
State | Published - Apr 1984 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)