Lee F K, Cheung M C, Chung S
Institute of Molecular Biology, University of Hong Kong.
Genomics. 1994 May 15;21(2):354-8. doi: 10.1006/geno.1994.1276.
The cDNA for human sorbitol dehydrogenase (SORD) has been cloned and sequenced. It translates into a peptide of 356 amino acid residues, one more than the sequence previously reported from peptide analysis. An extra alanine was found at the acetyl-blocked N-terminal, between positions 1 and 4. This matches the rat cDNA, which also has 356 amino acids, with an extra proline at position 3. Four other mis-matches were also observed, but these are all amino acid substitutions that occur outside proposed functionally important regions. Further work must be performed to determine whether these discrepancies represent polymorphic forms of the enzyme. The SORD gene was mapped by fluorescence in situ hybridization and found to occupy a single site on chromosome 15q15, indicating that it is a single-copy gene. This was confirmed by Southern blot hybridization. SORD is thought to be involved in the etiology of diabetic complications, and its deficiency has been linked to congenital cataracts. The cloned gene could be used as a probe to study the role of this enzyme in the pathogenesis of these diseases.
人山梨醇脱氢酶（SORD）的互补DNA（cDNA）已被克隆并测序。它翻译为一个由356个氨基酸残基组成的肽段，比先前肽段分析报告的序列多一个氨基酸。在乙酰化封闭的N端，第1位和第4位之间发现了一个额外的丙氨酸。这与大鼠cDNA相匹配，大鼠cDNA也有356个氨基酸，在第3位有一个额外的脯氨酸。还观察到其他四处不匹配，但这些都是在所提出的功能重要区域之外发生的氨基酸替换。必须开展进一步研究以确定这些差异是否代表该酶的多态形式。通过荧光原位杂交对SORD基因进行定位，发现它位于15号染色体q15的一个单一位点上，表明它是一个单拷贝基因。这通过Southern印迹杂交得到了证实。SORD被认为与糖尿病并发症的病因有关，其缺乏与先天性白内障有关。克隆的基因可作为探针来研究该酶在这些疾病发病机制中的作用。
