Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome |
| |
| Authors: | Mara H Hutz A M Michelson S E Antonarakis S H Orkin H H Kazazian Jr |
| |
| Institution: | (1) Department of Pediatrics, Johns Hopkins University School of Medicine, 21205 Baltimore, MD, USA;(2) Division of Hematology-Oncology, Children's Hospital Medical Center, 02115 Boston, MA, USA;(3) Department of Pediatrics, the Sidney Farber Cancer Institute, 02115 Boston, MA, USA;(4) Committee on Cell and Developmental Biology, Harvard Medical School, 02115 Boston, MA, USA;(5) The Johns Hopkins Hospital, CMSC 10-110, 21205 Baltimore, MD, USA |
| |
| Abstract: | Summary 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: | |
| 本文献已被 PubMed SpringerLink 等数据库收录！ |
|
