UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

POLYMORPHIC SITES IN THE AFRICAN POPULATION DETECTED BY SEQUENCE-ANALYSIS OF THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE GENE OUTLINE THE EVOLUTION OF THE VARIANT-A AND VARIANT-A-

VULLIAMY, TJ; OTHMAN, A; TOWN, M; NATHWANI, A; FALUSI, AG; MASON, PJ; LUZZATTO, L; (1991) POLYMORPHIC SITES IN THE AFRICAN POPULATION DETECTED BY SEQUENCE-ANALYSIS OF THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE GENE OUTLINE THE EVOLUTION OF THE VARIANT-A AND VARIANT-A-. P NATL ACAD SCI USA , 88 (19) 8568 - 8571.

Full text not available from this repository.

Abstract

The human X chromosome-linked gene encoding glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) is known to be highly polymorphic from the biochemical characterization of enzyme variants. The variant A (with enzyme activity in the normal range) and the variant A-(associated with enzyme deficiency) each have a frequency of about 0.2 in several African populations. Two restriction fragment length polymorphisms have also been found in people of African descent, but not in other populations, whereas a silent mutation has been shown to be polymorphic in Mediterranean, Middle Eastern, African, and Indian populations. We report now on two additional polymorphisms that we have detected by sequence analysis, one in intron 7 and one in intron 8. The analysis of 54 African male subjects for the seven polymorphic sites, clustered within 3 kilobases of the G6PD gene, has revealed only 7 of the 128 possible haplotypes, indicating marked linkage disequilibrium. These data have enabled us to suggest an evolutionary pathway for the different mutations, with only a single ambiguity. The mutation underlying the A variant is the most ancient and the mutation underlying the A- variant is the most recent. Since it seems reasonable that the A- allele is subject to positive selection by malaria, whereas the other alleles are neutral, G6PD may lend itself to the analysis of the role of random genetic drift and selection in determining allele frequencies within a single genetic locus in human populations.

Type: Article
Title: POLYMORPHIC SITES IN THE AFRICAN POPULATION DETECTED BY SEQUENCE-ANALYSIS OF THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE GENE OUTLINE THE EVOLUTION OF THE VARIANT-A AND VARIANT-A-
Keywords: HUMAN GENETICS, INTRON SEQUENCES, HUMAN EVOLUTION, FRAGMENT-LENGTH-POLYMORPHISM, DNA, MUTATION, DEFICIENCY, LINKAGE, ORIGIN, LOCUS, RFLP
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: http://discovery.ucl.ac.uk/id/eprint/366709
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item