Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family

Clinical Genetics
W J LeeW H Lin

Abstract

Type 1a glycogen storage disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with type 1a GSD. Both patients are compound heterozygotes with two different single nucleotide substitutions in the two G6Pase alleles. A guanine to adenine transition was identified at base position 327 in the exon 2, converting an arginine to a histidine at codon 83. The second substitution was a thymine to adenine transversion at base position 1101 in the exon 5, converting an isoleucine to an asparagine at codon 341. Family study reveals that both parents are heterozygous carriers: the father with a mutant G6Pase allele at exon 2, the mother with another mutant G6Pase allele at exon 5. This is the first family study in Taiwan on type 1a GSD identified by molecular analysis. The mutations identified herein are novel substitutions in the G6Pase gene. In addition, an adenine to guanine substitution was observed at base position 653 in the exon 5 of G6Pase gene in both sibling patients and their parents, as well as in 15 ...Continue Reading

References

Aug 29, 1978·Biochemical and Biophysical Research Communications·K NarisawaK Tada
Jan 25, 1991·Nucleic Acids Research·S W JohnC R Scriver
Jan 1, 1990·Journal of Inherited Metabolic Disease·A Burchell, I D Waddell
Apr 15, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·A BurchellB Burchell

❮ Previous
Next ❯

Citations

Apr 16, 1998·The Journal of Biological Chemistry·C J PanJ Y Chou
Oct 24, 1998·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·T NaritaK Chiba
Mar 10, 1999·Journal of Inherited Metabolic Disease·M StroppianoR Gatti
Mar 11, 2000·European Journal of Biochemistry·G van de WerveA Berteloot
Feb 13, 2001·Molecular Genetics and Metabolism·L J WongT J Chen
Jun 2, 2001·Molecular Genetics and Metabolism·A R JaneckeG Utermann
May 14, 1999·Trends in Endocrinology and Metabolism : TEM· Yang Chou J, B C Mansfield
Dec 28, 1999·Endocrinology and Metabolism Clinics of North America·J I WolfsdorfD A Weinstein

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.