Van der Kraan M, Kroos M A, Joosse M, Bijvoet A G, Verbeet M P, Kleijer W J, Reuser A J
Dept. of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Biochem Biophys Res Commun. 1994 Sep 30;203(3):1535-41. doi: 10.1006/bbrc.1994.2360.
An abnormal 2.3 kb SacI fragment of the human lysosomal alpha-glucosidase gene (GAA) was identified in patients with glycogen storage disease type II. The fragment results from deletion of exon 18 and adjacent parts of intron 17 and 18. The borders of the deletion are marked by the occurrence of an eight nucleotide long tandem repeat (AGGGGCCG) which is apparently instrumental in the mutation event. The exon 18 deletion was demonstrated in 10 out of 39 patients from Europe (all hetero-allelic) and is so far the most common mutation in this disease (allele frequency among patients is 0.13).
在II型糖原贮积病患者中鉴定出人类溶酶体α-葡萄糖苷酶基因（GAA）的一个异常2.3 kb SacI片段。该片段是由于外显子18以及内含子17和18的相邻部分缺失所致。缺失的边界由一个八核苷酸长的串联重复序列（AGGGGCCG）的出现所标记，该重复序列显然在突变事件中起作用。在来自欧洲的39名患者中的10名（均为杂合等位基因）中证实了外显子18缺失，并且到目前为止这是该疾病中最常见的突变（患者中的等位基因频率为0.13）。
