Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 212-219

  Lin, Zhili ^a   Fontaine, Jamie M ^a   Freer, Dennis E ^a   Naylor, Edwin W ^a  

^a PERKINELMER INC   (United States)

Author keywords

DNA; G6PD; Glucose 6 phosphate dehydrogenase deficiency; LightTyper; Mutation; Newborn screening

Indexed keywords

ADENINE NUCLEOTIDE; DNA; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GUANINE NUCLEOTIDE; PYRIMIDINE NUCLEOTIDE;

ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SCREENING; ENZYMATIC ASSAY; ENZYME ACTIVITY; FEMALE; GENE; GENE MUTATION; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMIZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; POPULATION; PRIORITY JOURNAL;

BASE SEQUENCE; DNA; DNA PRIMERS; FEMALE; GENOTYPE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; POLYMERASE CHAIN REACTION;

EID: 26244462166     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.05.008     Document Type: Article

References (25)

1. T. Vulliamy, P. Mason, and L. Luzzatto The molecular basis of glucose-6-phosphate dehydrogenase deficiency Trends Genet. 8 1992 138 143
2. U. Bienzle, O. Ayeni, A.O. Lucas, and L. Luzzatto Glucose-6-phosphate dehydrogenase and malaria. Greater resistance of females heterozygous for enzyme deficiency and of males with non-deficient variant Lancet 1 1972 107 110
3. C. Ruwende, S.C. Khoo, R.W. Snow, S.N. Yates, D. Kwiatkowski, S. Gupta, P. Warn, C.E. Allsopp, S.C. Gilbert, and N. Peschu Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria Nature 376 1995 246 249
4. E. Beutler G6PD: population genetics and clinical manifestations Blood Rev. 10 1996 45 52
5. A. Mehta, P.J. Mason, and T.J. Vulliamy Glucose-6-phosphate dehydrogenase deficiency Baillieres Best Pract. Res. Clin. Haematol. 13 2000 21 38
6. G. Martini, D. Toniolo, T. Vulliamy, L. Luzzatto, R. Dono, G. Viglietto, G. Paonessa, M. D'Urso, and M.G. Persico Structural analysis of the X-linked gene encoding human glucose-6-phosphate dehydrogenase EMBO J. 5 1986 1849 1855
7. T. Takizawa, I.Y. Huang, T. Ikuta, and A. Yoshida Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning Proc. Natl. Acad. Sci. USA 83 1986 4157 4161
8. E. Beutler, and T.J. Vulliamy Hematologically important mutations: glucose-6-phosphate dehydrogenase Blood Cells Mol. Dis. 28 2002 93 103
9. T. Takizawa, Y. Yoneyama, S. Miwa, and A. Yoshida A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+) Genomics 1 1987 228 231
10. A. Hirono, and E. Beutler Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-) Proc. Natl. Acad. Sci. USA 85 1988 3951 3954
11. T.J. Vulliamy, M. D'Urso, G. Battistuzzi, M. Estrada, N.S. Foulkes, G. Martini, V. Calabro, V. Poggi, R. Giordano, and M. Town 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 85 1988 5171 5175
12. D.T. Chiu, L. Zuo, E. Chen, L. Chao, E. Louie, B. Lubin, T.Z. Liu, and C.S. Du Two commonly occurring nucleotide base substitutions in Chinese G6PD variants Biochem. Biophys. Res. Commun. 180 1991 988 993
13. R. Joseph Mass newborn screening in Singapore-position and projections Ann. Acad. Med. Singapore 32 2003 318 323
14. C. Padilla, K. Nishiyama, T. Shirakawa, and M. Matsuo Newborn screening study group. Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: a pilot study on Filipino male newborns Pediatr. Int. 45 2003 10 15
15. S.H. Chiang, S.J. Wu, K.F. Wu, and K.J. Hsiao Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan Southeast Asian J. Trop. Med. Public Health 30 1999 72 74
16. T. Meloni, G. Forteleoni, and G.F. Meloni Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the northern Sardinian experience Acta Haematol. 87 1992 29 31
17. S. Missiou-Tsagaraki Screening for glucose-6-phosphate dehydrogenase deficiency as a preventive measure: prevalence among 1,286,000 Greek newborn infants J. Pediatr. 119 1991 293 299
18. K.C. Li, S.S. Lai, and S.T. Lamm Adequacy and pitfalls of G6PD deficiency counseling in Hong Kong Southeast Asian J. Trop. Med. Public Health 30 1999 79 83
19. E. Beutler A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency Blood 28 1966 553 562
20. O. Ainoon, A. Alawiyah, Y.H. Yu, S.K. Cheong, N.H. Hamidah, N.Y. Boo, and M. Zaleha Semiquantitative screening test for G6PD deficiency detects severe deficiency but misses a substantial proportion of partially deficient females Southeast Asian J. Trop. Med. Public Health 34 2003 405 414
21. G.J. Reclos, C.J. Hatzidakis, and K.H. Schulpis Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening J. Med. Screen. 7 2000 46 51
22. C.D. Bennett, M.N. Campbell, C.J. Cook, D.J. Eyre, L.M. Nay, D.R. Nielsen, R.P. Rasmussen, and P.S. Bernard The LightTyper: high-throughput genotyping using fluorescent melting curve analysis Biotechniques 34 2003 1288 1292 1294-1295
23. Z. Lin, J.G. Suzow, J.M. Fontaine, and E.W. Naylor A high throughput beta-globin genotyping method by multiplexed melting temperature analysis Mol. Genet. Metab. 81 2004 237 243
24. P. Heller, W.R. Best, R.B. Nelson, and J. Becktel Clinical implications of sickle-cell trait and glucose-6-phosphate dehydrogenase deficiency in hospitalized black male patients N. Engl. J. Med. 300 1979 1001 1005
25. Census 2000 Data for the United States. 〈 http://www.census.gov/ census2000/states/us.html〉.