Scholars@Duke publication: Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

Publication , Journal Article

Shen, J; Liu, HM; Bao, Y; Chen, YT

Published in: J Med Genet

January 1997

Published version (DOI) Link to item

Glycogen storage disease type III (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. We identified three polymorphic markers in the GDE gene using single strand conformation polymorphism (SSCP) analysis and DNA sequencing. They were -10G/A in the 5' non-translated region of exon 3,2001 + 8C/T in intron 16, and 3199C/T (P1067S) in exon 25. Two polymorphic markers (-10G/A and 2001 + 8C/T) were highly informative in both controls and GSD-III patients with heterozygosity values of 0.50 and 0.46, respectively. The third marker (3199C/T) had a heterozygosity value of 0.26. Restriction analysis of the PCR amplified genomic DNA products in two GSD-III families showed for the first time the potential use of these markers for carrier detection and prenatal diagnosis in this disease.

Duke Scholars

Yuan-Tsong Chen

Author Yuan-Tsong Chen Pediatrics, Medical Genetics

Published In

J Med Genet

DOI

10.1136/jmg.34.1.34

ISSN

0022-2593

Publication Date

January 1997

Volume

34

Issue

1

Start / End Page

34 / 38

Location

England

Related Subject Headings

Sequence Analysis, DNA
Polymorphism, Single-Stranded Conformational
Polymorphism, Genetic
Pedigree
Molecular Sequence Data
Male
Humans
Glycogen Storage Disease Type III
Glycogen Debranching Enzyme System
Genetics & Heredity

Citation

APA

Chicago

ICMJE

MLA

NLM

Shen, J., Liu, H. M., Bao, Y., & Chen, Y. T. (1997). Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. J Med Genet, 34(1), 34–38. https://doi.org/10.1136/jmg.34.1.34

Shen, J., H. M. Liu, Y. Bao, and Y. T. Chen. “Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.” J Med Genet 34, no. 1 (January 1997): 34–38. https://doi.org/10.1136/jmg.34.1.34.

Shen J, Liu HM, Bao Y, Chen YT. Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. J Med Genet. 1997 Jan;34(1):34–8.

Shen, J., et al. “Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.” J Med Genet, vol. 34, no. 1, Jan. 1997, pp. 34–38. Pubmed, doi:10.1136/jmg.34.1.34.

Shen J, Liu HM, Bao Y, Chen YT. Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. J Med Genet. 1997 Jan;34(1):34–38.

Published In

J Med Genet

DOI

10.1136/jmg.34.1.34

ISSN

0022-2593

Publication Date

January 1997

Volume

34

Issue

1

Start / End Page

34 / 38

Location

England

Related Subject Headings

Sequence Analysis, DNA
Polymorphism, Single-Stranded Conformational
Polymorphism, Genetic
Pedigree
Molecular Sequence Data
Male
Humans
Glycogen Storage Disease Type III
Glycogen Debranching Enzyme System
Genetics & Heredity