Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia

Journal of Human Genetics

Volumn 45, Issue 4, 2000, Pages 197-199

  Chiang, Shu Chuan ^c   Lee, Yu May ^b   Chang, Mei Hwei ^a   Wang, Tso Ren ^a   Ko, Tsang Ming ^c   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b INSTITUTE OF BIOLOGICAL CHEMISTRY   (Taiwan)

^c NONE

Author keywords

Chinese; Glucose 6 phosphatase; Glycogen storage disease type Ia; Mutation; Taiwan

Indexed keywords

AMINO ACID; DNA; GLUCOSE 6 PHOSPHATASE; POLYPEPTIDE;

ARTICLE; CHINESE; CHROMOSOME; CLINICAL ARTICLE; ENZYME ACTIVITY; FEMALE; GENE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MALE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TAIWAN;

EID: 0033942166     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070026     Document Type: Article

References (14)

1. Chen YT, Burchell A (1995) Glycogen storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 935-965
2. Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a. J Med Genet 33:358-360
3. Foster JD, Pederson BA, Nordlie RC (1997) Glucose-6-phosphatase structure, regulation, and function: an update. Proc Soc Exp Biol Med 215:314-332
4. Hanihara K (1993) The population history of the Japanese. Nippon Ronen Igakki Zasshi 30:923-931
5. Horai S, Murayama K, Hayasaka K, Matubayashi S, Hattori Y, Fucharoen G, Harihara S, Park KS, Omoto K, Pan IH (1996) mtDNA polymorphism in East Asian populations, with special reference to the peopling of Japan. Am J Hum Genet 59:579-590
6. Hwu WL, Chuang SC, Tsai LP, Chang MH, Chuang SM, Wang TR (1995) Glucose 6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type 1a. Hum Mol Genet 4:1095-1096
7. Hwu WL, Chiang SC, Huang SF, Chang MH, Wen WH, Wang TR (1999) Hypercalcemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations. J Inher Metab Dis 22:937-938
8. Kajihara S, Matsuhashi S, Yamamoto K, Kido KM, Tsuji K, Tanae A, Fujiyama S, Itoh T, Tanigawa K, Uchida M, Setoguchi Y, Motomura M, Mizuta T, Sakai T (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am J Hum Genet 57:549-555
9. Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, Hjelm NM (1998) Glucose-6-phosphatase gene (727G to T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. Clin Genet 53:184-190
10. Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 262:580-583
11. Lei KJ, Pan CJ, Shelly PL, Liu JL, Chou JY (1994) Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. J Clin Invest 93:1994-1999
12. Lei KJ, Chen YT, Chen H, Wong LJC, Liu JL, McConkie-Rosell A, Van Hove JLK, Ou HCY, Yeh NJ, Pan LY, Chou JY (1995) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatse locus. Am J Hum Genet 57:766-771
13. Naritomi Y, Nakashima H, Kagimoto M, Naito Y, Yokota E, Imamura T (1990) A common Chinese β-thalassemia mutation found in a Japanese family. Hum Genet 84:480-482
14. Okubo M, Yoshiko A, Kishimoto M, Shishiba Y, Murase T (1997) Identification of a point mutation (G727T) in the glucose-6-phosphatasc gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. Clin Genet 51:179-183