Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect

Human Mutation
J J Shieh, C Y Lin

Abstract

Glycogen storage disease type II (GSD II, Pompe's disease), an autosomal recessive inherited disease, is caused by the deficiency of acid alpha-D-glucosidase, which results in the impaired glycogen degradation in lysosome and causes excess glycogen accumulation in lysosome. In Taiwan, the infantile form of GSD II is the most common type of glycogen storage diseases. The frequency of C1935A mutant allele is 0.8 in these Chinese patients. In this study, we analyzed four single point polymorphic markers (324, 1203, 2065, 2338) by ACRS-based RFLP We observed that the alleles possessing the C1935A mutation in 19 of 25 Chinese patients who were heterozygous or homozygous have conserved polymorphic markers, and all of C1935A mutant alleles in these patients are linked to a specific haplotype. The allele frequency of this specific haplotype in 19 Chinese patients and in 42 normal individuals is 0.95 and 0.17, respectively (P<0.005, chi2 = 66.018). This result suggests that the C1935A mutation in Chinese patients with infantile form of GSD II is due to the founder effect.

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Citations

Nov 3, 2010·Genetic Testing and Molecular Biomarkers·Pramuk AmarinthnukrowhVorasuk Shotelersuk
Jan 1, 2010·Expert Opinion on Medical Diagnostics·Ajj ReuserDjj Halley
May 2, 2013·Pediatrics and Neonatology·Yin-Hsiu ChienNi-Chung Lee
Nov 10, 2006·Journal of the Neurological Sciences·Young-Eun ParkDae-Seong Kim
Jul 10, 2007·Molecular Genetics and Metabolism·Laura GortAmparo Chabás
Jan 13, 2012·Journal of Human Genetics·Yen-Hui ChiuTze-Tze Liu
Sep 7, 2007·Journal of Human Genetics·Youichi TajimaHitoshi Sakuraba
Feb 28, 2008·European Journal of Human Genetics : EJHG·Marian A KroosArnold J J Reuser
Apr 5, 2016·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Angela Genge, Natasha Campbell
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marian KroosArnold J J Reuser
May 23, 2000·Journal of Pediatric Endocrinology & Metabolism : JPEM·O N Elpeleg
Aug 18, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Lara KohlerNina Raben
Feb 19, 2016·Experimental and Therapeutic Medicine·Yun LiuXiaoyu Zhou
Aug 19, 2021·Human Mutation·Monica Y NiñoW W M Pim Pijnappel
Oct 22, 2008·Lancet·Ans T van der Ploeg, Arnold J J Reuser

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