Okubo M, Aoyama Y, Kishimoto M, Shishiba Y, Murase T
Department of Endocrinology and Metabolism, Ioranomon Hospital, Tokyo, Japan.
Clin Genet. 1997 Mar;51(3):179-83. doi: 10.1111/j.1399-0004.1997.tb02449.x.
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.
1a型糖原贮积病（GSD 1a）是一种常染色体隐性代谢紊乱疾病，由葡萄糖-6-磷酸酶（G6Pase）缺乏引起。我们分析了两个患GSD 1a的非亲缘关系日本家庭的G6Pase基因。对所有五个外显子和外显子-内含子连接区进行DNA测序，结果显示外显子5中的核苷酸727（G727T）发生了G到T的颠换，此前有报道称该颠换会导致异常剪接。使用错配PCR进行的家系研究表明，三名患者为G727T突变的纯合子，而其父母为杂合子。为了调查等位基因频率，我们对216名日本健康志愿者进行了筛查，发现了一名无症状携带者。我们的研究结果表明，G727T突变在日本可能很普遍。
