Ia型糖原贮积病：鉴定出四种新突变（175delGG、R170X、G266V和V338F）。突变简讯第220号。在线版。
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
作者信息
Rake J P, ten Berge A M, Verlind E, Visser G, Niezen-Koning K E, Buys C H, Smit G P, Scheffer H
机构信息
Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, The Netherlands.
出版信息
Hum Mutat. 1999;13(2):173. doi: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e.
Deficient activity of glucose-6-phosphatase (G6Pase) causes glycogen storage disease type Ia (GSD Ia). We analysed the G6Pase gene of 16 GSD Ia patients using single strand conformation polymorphism (SSCP) analysis prior to automated sequencing of exon(s) revealing an aberrant SSCP pattern. In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure to identify mutations. Four novel mutations (175delGG, R170X, G266V and V338F) were identified.
葡萄糖-6-磷酸酶（G6Pase）活性不足会导致I型糖原贮积病（GSD Ia）。在对外显子进行自动测序之前，我们使用单链构象多态性（SSCP）分析对16例GSD Ia患者的G6Pase基因进行了分析，结果显示出异常的SSCP模式。在所有GSD Ia患者中，我们都能够在G6Pase基因的两个等位基因上鉴定出突变，这表明该方法是鉴定突变的可靠程序。我们鉴定出了四个新突变（175delGG、R170X、G266V和V338F）。
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