Molecular heterogeneity of the glucose-6-phosphate dehydrogenase deficiency in the Hellenic population

Human Heredity

Volumn 50, Issue 4, 2000, Pages 237-241

  Menounos, Panayotis ^a   Zervas, Christos ^a   Garinis, George ^a   Doukas, Costantinos ^a   Kolokithopoulos, Dimosthenis ^b   Tegos, Costantinos ^c   Patrinos, George P ^a,d  

^a Nursing Military Academy   (Greece)

^b 401 Military Hospital   (Greece)

^c NIMTS HOSPITAL   (Greece)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

G6PD deficiency; G6PD gene; G6PD mutations; SSCP

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE; RESTRICTION ENDONUCLEASE;

ARTICLE; DNA DETERMINATION; ENZYME ACTIVITY; EXON; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOLECULAR EVOLUTION; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034092961     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022922     Document Type: Article

References (27)

1. Beutler E: G6PD deficiency. Blood 1994;84:3613-3636.
2. Vogel F, Motulski AG: Human Genetics - Problems and approaches, ed 2. Berlin, Springer, 1986.
3. Miwa S, Fujii H: Molecular basis of crythroen-zymopathies associated with hereditary hemolytic anemia: Tabulation of mutant enzymes. Am J Hematol 1996;51:122-132.
4. Xu W, Westwood B, Bartsocas CS, Malcorra-Azpiazu JJ, Indrak K, Beutler E: Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups. Blood 1995;85:257-263.
5. Beutler E: Red cell metabolism: A manual of biochemical methods. New York, Grune & Stratton, 1984.
6. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S: Construction of human gene libraries from small amounts of peripheral blood: Analysis of beta-like globin genes. Hemoglobin 1982;6:27-36.
7. Kurdi-Haidar B, Mason PJ, Berrebi A, Ankra-Badu G, Al-Ali Amin, Oppenheim A, Luzzatto L: Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East. Am J Hum Genet 1990;47:1013-1019.
8. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-2770.
9. Hirano A, Miwa S, Fuji H, Ishida F, Yamada K, Kabuki K: Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by non-radioisotope single strand conformation polymorphism analysis. Blood 1994;83:3363-3368.
10. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-5467.
11. Beutler E, Westwood B, Prehal JT, Vaca G, Bartsocas CS, Baronciani L: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 1992;80:255-256.
12. Calabro V, Mason PJ, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L: Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet 1993;52:527-536.
13. Takizawa T, Yoneyama Y, Miwa S, Yoshida A: A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+). Genomics 1987;1:228-231.
14. Poggi V, Town M, Foulkes NS, Luzzatto L: Identification of a single base change in a new mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA. Biochem J 1990;271:157-160.
15. Vulliamy TJ, Kaeda JS, Ait-Chafa D, Mangerini R, Roper D, Barhot J, Mehta AB, Athanassiou-Metaxa M, Luzzatto L, Mason PJ: Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. Br J Haemat 1998;101:670-675.
16. Missiou-Tsagaraki S: Screening for glucose-6-phosphate dehydrogenase deficiency as preventive measure: Prevalence among 1,286,000 Greek newborn infants. J Pediatr 1991;119:293-299.
17. Petrakis N, Wiesenfeld S, Sams B, Collen M, Cutler J, Siegelaus AB: Prevalence of sickle-cell trait and glucose-6-phosphate dehydrogenase deficiency. N Engl J Med 1970;282:767.
18. Doxiadis S, Valaes T, Karaklis A, Stavrakakis D: Risk of severe jaundice in glucose-6-phosphate dehydrogenase deficiency of the newborn. Lancet 1964;i:210-212.
19. di Montemuros FM, Dotti C, Tavazzi D, Fiorelli G, Cappellini MD: Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. Hematologica 1997;82:440-445.
20. Terzioglu O, Uzunoglu S, Vulliamy T: Screening of G6PD Mediterranean mutation causing to severe glucose-6-phosphate dehydrogenase deficiency in Turkish population (abstract). Eur J Hum Genet 1996;4(suppl 1):66.
21. Nafa K, Reghis A, Osmani N, Baghli L, Ait-Abbes H, Benabadji M, Kaplan J-C, Vulliamy T, Luzzatto L: At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria. Hum Genet 1994;94:513-517.
22. Viglietto G, Montarano V, Calabro V, Vallone D, D'Urso M, Perisco MG, Battistuzzi G: Common glucose-6-phosphate dehydrogenase variants from the Italian population: Biochemical and molecular characterization. Ann Hum Genet 1990;54:1-15.
23. Vulliamy T, Rovira A, Yosoff N, Colomer D, Luzzatto L, Vives-Corrons JL: Independent origin of single and double mutations in the human glucose-6-phosphate dehydrogenase gene. Hum Mutat 1996;8:311-318.
24. Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L: Double mutant alleles: Are they rare? Hum Mol Genet 1995;4:1169-1171.
25. Beutler E: G6PD: Population genetics and clinical manifestations. Blood Rev 1996;10:45-52.
26. Matsuno Y, Yamashiro Y, Yamamoto K, Hattori Y, Yamamoto K, Ohba Y, Miyaji T: A possible example of gene conversion with a common - thalassemia mutation and Chi sequence present in the alpha-globin gene. Hum Genet 1992;88:357-358.
27. Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M, Luzzatto L, Perisco MG: Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci USA 1988;85:5171-5175.