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Linkage Between a PvuII Restriction Fragment Length Polymorphism and G6PD A-202A/376G: Evidence for a Single Origin of the Common G6PD A- Mutation

Overview
Journal Hum Genet
Specialty Genetics
Date 1990 Jun 1
PMID 1972698
Citations 7
Authors
E Beutler
W KUHL
Affiliations
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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.

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References
1.
DUrso M, Luzzatto L, Perroni L, Ciccodicola A, Gentile G, Peluso I . An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. Am J Hum Genet. 1988; 42(5):735-41. PMC: 1715180. View
2.
Martini G, Toniolo D, Vulliamy T, Luzzatto L, Dono R, Viglietto G . Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. EMBO J. 1986; 5(8):1849-55. PMC: 1167050. DOI: 10.1002/j.1460-2075.1986.tb04436.x. View
3.
Pagnier J, Mears J, Beldjord C, Nagel R, Labie D . Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A. 1984; 81(6):1771-3. PMC: 345002. DOI: 10.1073/pnas.81.6.1771. View
4.
Antonarakis S, Boehm C, Serjeant G, Theisen C, Dover G, Kazazian Jr H . Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci U S A. 1984; 81(3):853-6. PMC: 344936. DOI: 10.1073/pnas.81.3.853. View
5.
Saiki R, Scharf S, Faloona F, Mullis K, Horn G, Erlich H . Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985; 230(4732):1350-4. DOI: 10.1126/science.2999980. View