Rapid detection of glycogen storage disease type Ia by DNA microarray

Clinical Chemistry and Laboratory Medicine

Volumn 48, Issue 9, 2010, Pages 1229-1234

  Xu, Shanshan ^a   Qin, Shengying ^b   Gu, Xuefan ^a   Qiu, Wenjuan ^a   Ye, Jun ^a   Han, Lianshu ^a   He, Lin ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

G6PC; glycogen storage disease type Ia; microarray; mutation

Indexed keywords

DNA; GLUCOSE 6 PHOSPHATASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; DNA MICROARRAY; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 1A; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; LIGASE CHAIN REACTION; LIGASE DETECTION REACTION; MAJOR CLINICAL STUDY; MUTANT; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEASIBILITY STUDIES; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; INFANT; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TIME FACTORS; YOUNG ADULT;

EID: 77957313616     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2010.244     Document Type: Article

References (29)

1. Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia. Science 1993;262:580-3. (Pubitemid 23350674)
2. Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J Clin Invest 1994;93:1994-9.
3. Hacia JG. Resequencing and mutational analysis using oligonucleotide microarrays. Nat Genet 1999;21:42-7. (Pubitemid 29031491)
4. Berber E, Leggo J, Brown C, Berber E, Gallo N, Feilotter H, et al. DNA microarray analysis for the detection of mutations in hemophilia A. J Thromb Haemost 2006;4:1756-62. (Pubitemid 44144803)
5. Laios E, Drogari E. Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the Nano-Chip microelectronic array technology. Clin Chim Acta 2006;374:93-9. (Pubitemid 44604289)
6. Thistlethwaite WA, Moses LM, Hoffbuhr KC, Devaney JM, Hoffman EP. Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization. J Mol Diagn 2003;5:121-6.
7. Schrijver I, Oitmaa E, Metspalu A, Gardner P. Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. J Mol Diagn 2005;7:375-87. (Pubitemid 41149653)
8. Tejedor D, Castillo S, Mozas P, Jimenez E, Lopez M, Tejedor MT, et al. Reliable low-density DNA array based on allelespecific probes for detection of 118 mutations causing familial hyperchoelesterolemia. Clin Chem 2005;51:1137-44. (Pubitemid 43079390)
9. Ezgu F, Hasanoglu A, Okur I, Biberoglu G, Tumer L, Eminoglu T, et al. Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray. Blood Cell Mol Dis 2008;40:246-7. (Pubitemid 351221386)
10. Battistella S, Damin F, Chiari M, Delgrosso K, Surrey S, Fortina P, et al. Genotyping β-globin gene mutations on copolymer-coated glass slides with the ligation detection reaction. Clin Chem 2008;54:1657-63.
11. Waldmuller S, Freund P, Mauch S, Toder R, Vosberg H-P. Lowdensity DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. Hum Mutat 2002;19:560-9. (Pubitemid 34461630)
12. Yzer S, Leroy BP, De Baere E, De Ravel TJ, Zonneveld MN, Voesenek K, et al. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006;47:1167-76. (Pubitemid 46768353)
13. Yoshida S, Yamaji Y, Yoshida A, Kuwahara R, Yamanoto K, Kubata T, et al. Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: Possible use of genotyping microarray. Mol Vis 2006;6:1558-64. (Pubitemid 46029769)
14. Yoo SY, Kim TI, Lee SY, Kim EK, Keum KC, Yoo NC, et al. Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene. Br J Ophthalmol 2007;91:722-7.
15. Stenirri S, Alaimo G, Manitto MP, Brancato R, Ferrari M, Cremonesi L. Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? Clin Chem Lab Med 2008;46:1250-5.
16. Consolandi CA, Frosini C, Pera GB, Ferrara R, Bordoni B, Castiglioni E, et al. Polymorphism analysis within the HLA-A locus by universal oligonucleotide array. Hum Mutat 2004;24:428-34.
17. Gerry NP, Witowski NE, Day J, Hammer RP, Barany G, Barany F. Universal DNA microarray method for multiplex detection of low abundance point mutations. J Mol Biol 1999;292:251-62. (Pubitemid 29435764)
18. Trioche P, Francoual J, Chalas J, Capel L, Lindenbaum A, Odievre M, et al. Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. Hum Mutat 2000;16:444-6. (Pubitemid 30198112)
19. Terizioglu M, Emre S, Ozen H, Saltik IN, Kocak N, Ciliv G, et al. Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia. J Inherit Metab Dis 2001;24:881-2. (Pubitemid 34189403)
20. Kajihara S, Matsuhashi S, Yamamoto K, Kido K, Tsuji K, Tanae A, et al. Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type Ia in Japan. Am J Hum Genet 1995;57:549-55.
21. Okubo M, Aoyama Y, Kishimoto M, Shishiba Y, Murase T. Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia, and carrier screening in healthy volunteers. Clin Genet 1997;51:179-83. (Pubitemid 27168385)
22. Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, et al. Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Kerean patients with glycogen storage disease type Ia. Clin Genet 2004;65:487-9.
23. Wong LJ, Hwu WL, Dai P, Chen TJ. Molecular genetics of glycogen storage disease type Ia in Chinese patients of Taiwan. Mol Genet Metab 2001;72:175-80. (Pubitemid 34171458)
24. Hwu WL, Chuang SC, Tsai LP, Chang MH, Chuang SM, Wang TR. Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. Hum Mol Genet 1995;4:1095-6.
25. Chiang SC, Lee YM, Chang MH, Wang TR, Ko TM, Hwu WL. Glucose-6- phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia. J Hum Genet 2000;45:197-9. (Pubitemid 30482977)
26. Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Kure S, et al. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet 2000;91:107-12. (Pubitemid 30133645)
27. Chou JY, Mansfield BC. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat 2008;29:921-30.
28. Qiu WJ, Gu XF, Ye J, Han LSh, Zhang YF, Liu XQ. Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients. J Inherit Metab Dis 2003;26:811-2. (Pubitemid 38139382)
29. Qin S, Zhao X, Pan Y, Liu J, Feng G, Fu J, et al. An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray. Eur J Hum Genet 2005;13:807-14. (Pubitemid 40946078)