Development and evaluation of a reverse dot blot assay for the simultaneous detection of six common Chinese G6PD mutations and one polymorphism

Blood Cells, Molecules, and Diseases

Volumn 41, Issue 1, 2008, Pages 17-21

  Li, Liang ^a   Zhou, Yu Qiu ^b   Xiao, Qi Zhi ^b   Yan, Ti Zhen ^a   Xu, Xiang Min ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b Zhuhai Institute of Medical Genetics   (China)

Author keywords

Glucose 6 phosphate dehydrogenase deficiency (G6PD); Multiplex polymerase chain reaction (M PCR); Point mutations; Reverse dot blot (RDB)

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; CHINA; CHINESE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; DOT HYBRIDIZATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, SOUTHERN; EXONS; FEMALE; GENOTYPE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; MALE; OLIGONUCLEOTIDE PROBES; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 44449141793     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.01.007     Document Type: Article

References (16)

1. Beutler E. G6PD deficiency. Blood 84 (1994) 3613-3636
2. Beutler E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood 111 (2008) 16-24
3. Beutler E., and Vulliamy T.J. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol. Diseases 28 (2002) 93-103
4. Jiang W., Yu G., Liu P., et al. Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population. Hum. Genet. 119 (2006) 463-478
5. Yan T., Cai R., Mo O., et al. Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations. Haematologica 91 (2006) 1321-1328
6. Beutler E. A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency. Blood 28 (1966) 553-562
7. Du C.S., Ren X., Chen L., et al. Detection of the most common G6PD gene mutations in Chinese using amplification refractory mutation system. Hum. Hered. 49 (1999) 133-138
8. Tang T.K., Huang C.S., Huang M.J., et al. Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan. Blood 79 (1992) 2135-2140
9. Lam V.M., Huang W., Lam S.T., et al. Rapid detection of common Chinese glucose-6-phosphate dehydrogenase (G6PD) mutations by denaturing gradient gel electrophoresis (DGGE). Genet. Anal. 12 (1996) 201-206
10. Lin Z., Fontaine J.M., Freer D.E., and Naylor E.W. Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency. Mol. Genet. Metab. 86 (2005) 212-219
11. Bang-Ce Y., Hongqiong L., and Zhensong L. Rapid detection of common Chinese glucose-6-phosphate dehydrogenase (G6PD) mutations by microarray-based assay. Am. J. Hematol. 76 (2004) 405-412
12. Tseng C.P., Huang C.L., Chong K.Y., et al. Rapid detection of glucose-6-phosphate dehydrogenase gene mutations by denaturing high-performance liquid chromatography. Clin. Biochem. 38 (2005) 973-980
13. Wu G., Liang W.H., Zhu J., et al. Rapid, simultaneous genotyping of 10 Southeast Asian glucose-6-phosphate dehydrogenase deficiency-causing mutations and a silent polymorphism by multiplex primer extension/denaturing HPLC assay. Clin. Chem. 51 (2005) 1288-1291
14. Zhao F., Ou X.L., Xu C.C., et al. Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS. Blood Cells Mol. Diseases 32 (2004) 315-318
15. Gold B. Origin and utility of the reverse dot-blot. Expert Rev. Mol. Diagn. 3 (2003) 143-152
16. Lappin S., Cahlik J., and Gold B. Robot printing of reverse dot blot arrays for human mutation detection. J. Mol. Diagn. 3 (2001) 178-188