Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A ? mutation
- 1 June 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 85 (1) , 9-11
- https://doi.org/10.1007/bf00276317
Abstract
DNA samples from 29 males with the G6PD A-phenotype and 14 males with a G6PD B phenotype were studied for the presence of each of four polymorphic restriction sites in the glucose-6-phosphate dehydrogenase locus. All G6PD A-subjects with the G6PD A-202A/376G genotype, regardless of population origin, shared identical haplotypes. In view of the fact that at least one of the restriction sites, the PvuII site in the intron between exon 5 and 6, has thus far been uncommon in the populations studied, it seems likely that the G6PD A-mutation at nucleotide 202 arose relatively recently and in a single individual.This publication has 11 references indexed in Scilit:
- MOLECULAR HETEROGENEITY OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE-A-1989
- RFLP OF THE X-CHROMOSOME LINKED GLUCOSE-6-PHOSPHATE-DEHYDROGENASE LOCUS IN BLACKS1988
- Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).Proceedings of the National Academy of Sciences, 1988
- AN EXTENSIVE SEARCH FOR RFLP IN THE HUMAN GLUCOSE-6-PHOSPHATE-DEHYDROGENASE LOCUS HAS REVEALED A SILENT MUTATION IN THE CODING SEQUENCE1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.The EMBO Journal, 1986
- Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell AnemiaScience, 1985
- Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.Proceedings of the National Academy of Sciences, 1984
- Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.Proceedings of the National Academy of Sciences, 1984
- Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.Proceedings of the National Academy of Sciences, 1978