Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site.
- 1 December 1984
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 81 (24) , 7855-7859
- https://doi.org/10.1073/pnas.81.24.7855
Abstract
The human gene for glucose-6-phosphate dehydrogenase (G6PD) was subregionally mapped to band Xq28 by segregation analysis in rodent-human somatic cell hybrids. A common type of X-linked mental retardation associated with an inducible fragile site at Xq27-Xq28 segregates in a close linkage relationship with a G6PD variant, but the relative position of G6PD with respect to the fragile site was not yet established. This fragile-X syndrome was shown to be closely linked also to a Taq I restriction fragment length polymorphism detected by a c[complementary]DNA probe for factor IX, and the latter locus was mapped to the subtelomeric region Xq26-Xq28. The in situ hybridization studies reported here provide strong evidence that G6PD is located on the Xq telomeric fragment distal to the fragile site. These observations and the well-established knowledge that the genes for Deutan and Protan color blindness are closely linked to G6PD, but segregate independently of factor IX deficiency, suggest that the fragile site associated with this type of X-linked mental retardation occurs in a region prone to high frequency of meiotic recombination.This publication has 26 references indexed in Scilit:
- Assignment of the haemophilia B (Factor IX) locus to the q26‐qter region of the X chromosomeAnnals of Human Genetics, 1984
- CHARACTERISATION AND USE OF AN INTRAGENIC POLYMORPHIC MARKER FOR DETECTION OF CARRIERS OF HAEMOPHILIA B (FACTOR IX DEFICIENCY)The Lancet, 1984
- Report of the committee on the genetic constitution of the X and Y chromosomesCytogenetic and Genome Research, 1984
- Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal maleNature, 1983
- The fragile X: a scanning electron microscope study.Journal of Medical Genetics, 1983
- Brief report: Linkage between G6PD and fragile‐X syndromeAmerican Journal of Medical Genetics, 1983
- Gene deletions in patients with haemophilia B and anti-factor IX antibodiesNature, 1983
- CHROMOSOME BANDING REQUIRED FOR STUDIES ON X-LINKED MENTAL RETARDATIONThe Lancet, 1981
- Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase IJournal of Molecular Biology, 1977
- Haemophilia, Christmas Disease and the Xg Blood GroupsBritish Journal of Haematology, 1964