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Identification of a point mutation (G727T) in the glucose‐6‐phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers
Author(s) -
Okubo Minoru,
Aoyama Yoshiko,
Kishimoto Masahiko,
Shishiba Yoshimasa,
Murase Toshio
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02449.x
Subject(s) - point mutation , glycogen storage disease , mutation , glycogen storage disease type i , glucose 6 phosphatase , gene , medicine , endocrinology , identification (biology) , genetics , phosphatase , disease , biology , biochemistry , enzyme , botany , phosphorylation
Glycogen storage disease type 1a (GSD 1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose‐6‐phosphatase (G6Pase). We analyzed the G6Pase gene of two unrelated Japanese families with GSD 1a. DNA sequencing of all five exons and exon‐intron junctions revealed a G‐to‐T transversion at nucleotide 727 (G727T) in exon 5, which has been previously reported to cause abnormal splicing. Family studies using mismatch PCR showed that three patients were homozygous for the G727T mutation, while the parents were heterozygous. To investigate allele frequencies, we screened 216 Japanese healthy volunteers and found one asymptomatic carrier. Our findings suggest that the G727T mutation may be prevalent in Japan.