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Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Publication ,  Journal Article
Lei, KJ; Chen, YT; Chen, H; Wong, LJ; Liu, JL; McConkie-Rosell, A; Van Hove, JL; Ou, HC; Yeh, NJ; Pan, LY
Published in: Am J Hum Genet
October 1995

Diagnosis of glycogen storage disease (GSD) type 1a currently is established by demonstrating the lack of glucose-6-phosphatase (G6Pase) activity in the patient's biopsied liver specimen. Recent cloning of the G6Pase gene and identification of mutations within the gene that causes GSD type 1a allow for the development of a DNA-based diagnostic method. Using SSCP analysis and DNA sequencing, we characterized the G6Pase gene of 70 unrelated patients with enzymatically confirmed diagnosis of GSD type 1a and detected mutations in all except 17 alleles (88%). Sixteen mutations were uncovered that were shown by expression to abolish or greatly reduce G6Pase activity and that therefore are responsible for the GSD type 1a disorder. R83C and Q347X are the most prevalent mutations found in Caucasians, 130X and R83C are most prevalent in Hispanics, and R83H is most prevalent in Chinese. The Q347X mutation has thus far been identified only in Caucasian patients, and the 130X mutation has been identified only in Hispanic patients. Our results demonstrate that the DNA-based analysis can accurately, rapidly, and noninvasively detect the majority of mutations in GSD type 1a. This DNA-based diagnosis now permits prenatal diagnosis among at-risk patients and serves as a database in screening and counseling patients clinically suspected of having this disease.

Duke Scholars

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

October 1995

Volume

57

Issue

4

Start / End Page

766 / 771

Location

United States

Related Subject Headings

  • Prevalence
  • Polymorphism, Single-Stranded Conformational
  • Mutation
  • Molecular Sequence Data
  • Humans
  • Glycogen Storage Disease Type I
  • Glucose-6-Phosphatase
  • Genetics & Heredity
  • Ethnicity
  • Base Sequence
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Lei, K. J., Chen, Y. T., Chen, H., Wong, L. J., Liu, J. L., McConkie-Rosell, A., … Pan, L. Y. (1995). Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet, 57(4), 766–771.
Lei, K. J., Y. T. Chen, H. Chen, L. J. Wong, J. L. Liu, A. McConkie-Rosell, J. L. Van Hove, H. C. Ou, N. J. Yeh, and L. Y. Pan. “Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.Am J Hum Genet 57, no. 4 (October 1995): 766–71.
Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, et al. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995 Oct;57(4):766–71.
Lei, K. J., et al. “Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.Am J Hum Genet, vol. 57, no. 4, Oct. 1995, pp. 766–71.
Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995 Oct;57(4):766–771.
Journal cover image

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

October 1995

Volume

57

Issue

4

Start / End Page

766 / 771

Location

United States

Related Subject Headings

  • Prevalence
  • Polymorphism, Single-Stranded Conformational
  • Mutation
  • Molecular Sequence Data
  • Humans
  • Glycogen Storage Disease Type I
  • Glucose-6-Phosphatase
  • Genetics & Heredity
  • Ethnicity
  • Base Sequence