title: Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome.
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.
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D010735:Phosphoglycerate Kinase / Q000235:genetics*; D011110:Polymorphism, Genetic; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA; D010735:Phosphoglycerate Kinase; D004262:DNA Restriction Enzymes; C024388:CTGCAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific