Martiniuk F, Bodkin M, Tzall S, Hirschhorn R
New York University Medical Center, Department of Medicine, NY 10016.
DNA Cell Biol. 1991 May;10(4):283-92. doi: 10.1089/dna.1991.10.283.
Genetic deficiency of acid alpha glucosidase (GAA) results in glycogen storage disease type II. To study the disease at the molecular level, we have previously isolated and sequenced the cDNA (3.6 kb) for human GAA. We have now isolated the structural gene, mapped and determined the position and size of the exons containing the entire cDNA, and determined the sequence of the intron-exon junctions. The structural gene is approximately 28 kb and contains 20 exons. The first exon has only 5' untranslated sequence and is separated by an approximately 2.7-kb intron from the second exon that contains the initiation ATG. The second as well as the last exon are quite large (578 and 607 bp) with the remainder of the exons ranging from 85-187 bp. Additionally, two new restriction fragment length (RFLPs) for Xba I and Stu I are described at the GAA locus, one of which is most 5' of the eight RFLPs we have previously described.
酸性α-葡萄糖苷酶（GAA）的基因缺陷会导致II型糖原贮积病。为了在分子水平上研究该疾病，我们之前已分离并测序了人类GAA的cDNA（3.6 kb）。我们现在已分离出结构基因，对包含整个cDNA的外显子的位置和大小进行了定位和测定，并确定了内含子-外显子连接区的序列。该结构基因约为28 kb，包含20个外显子。第一个外显子仅具有5'非翻译序列，与包含起始ATG的第二个外显子被一个约2.7 kb的内含子隔开。第二个外显子和最后一个外显子都相当大（分别为578和607 bp），其余外显子的大小在85 - 187 bp之间。此外，在GAA基因座描述了两个新的Xba I和Stu I限制性片段长度多态性（RFLP），其中一个位于我们之前描述的八个RFLP中最靠5'端的位置。
