Kozák L, Francová H, Hrabincová E, Stastná S, Pesková K, Elleder M
Research Institute of Child Health, Department of Biochemical and Molecular Genetics, Cernopolní 9, CZ-66262 Brno, Czech Republic.
Hum Mutat. 2000 Jul;16(1):89. doi: 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A.
Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). A study of the molecular basis of GSD Ia was carried out in 12 Czech and Slovak GSD Ia patients from 10 unrelated families. Mutation analysis was performed for the entire coding region of G6Pase gene using DGGE, sequencing and PCR/digestion. With the strategy used, all mutant alleles were identified in this study. Three novel mutations (K76N, V166A and 540del5), six previously described mutations (W77R, R83C, G188R, R295C, Q347X and 158delC) and one known polymorphism (1176T-->C) were detected. The most common mutation identified was R83C, accounting for 8 out of 20 (40%) mutant alleles. The K76N mutation was found in a Gypsy family: two siblings with GSD Ia were homozygous for this mutation. These findings expand our knowledge of mutations responsible for glycogen storage disease type Ia.
葡萄糖-6-磷酸酶（G6Pase）基因突变是导致I型糖原贮积病（GSD Ia）的原因。对来自10个非亲缘家庭的12名捷克和斯洛伐克GSD Ia患者进行了GSD Ia分子基础的研究。使用变性梯度凝胶电泳（DGGE）、测序和PCR/酶切对G6Pase基因的整个编码区进行了突变分析。采用该策略，本研究中鉴定出了所有突变等位基因。检测到3个新突变（K76N、V166A和540del5）、6个先前描述的突变（W77R、R83C、G188R、R295C、Q347X和158delC）以及1个已知多态性（1176T→C）。鉴定出的最常见突变是R83C，占20个突变等位基因中的8个（40%）。在一个吉普赛家庭中发现了K76N突变：两名患有GSD Ia的兄弟姐妹对此突变呈纯合状态。这些发现扩展了我们对I型糖原贮积病相关突变的认识。
