Bjursell C, Stibler H, Wahlström J, Kristiansson B, Skovby F, Strömme P, Blennow G, Martinsson T
Department of Clinical Genetics, University of Gothenburg, East Hospital, Sweden.
Genomics. 1997 Feb 1;39(3):247-53. doi: 10.1006/geno.1996.4488.
Carbohydrate-deficient glycoprotein syndrome type I (CDG I) is characterized clinically by severe nervous system involvement and biochemically by defects in the carbohydrate residues in a number of serum glycoproteins. The CDG1 gene was recently localized by us to a 13-cM interval in chromosome region 16p13. In this study 44 CDG I families from nine countries were analyzed with available markers in a region ranging from marker D16S495 to D16S497, and haplotype and linkage disequilibrium analyses were performed. One specific haplotype was found to be markedly overrepresented in CDG I patients from a geographically distinct region in Scandinavia, strongly indicating that CDG I families in this region share the same ancestral CDG1 mutation. furthermore, analysis of the extent of the common haplotype in these families indicates that the CDG1 gene is located in the region defined by markers D16S513-AFMa284wd5-D16S768-D16S406-D16S502 . The critical CDG1 region, in strong linkage disequilibrium with markers AFMa284wd5, D16S768, and D16S406, thus constitutes less than 1 Mb of DNA and less than 1 cM in the very distal part of the CDG1 region defined by us previously.
I型碳水化合物缺乏糖蛋白综合征（CDG I）的临床特征是严重的神经系统受累，生化特征是多种血清糖蛋白的碳水化合物残基存在缺陷。我们最近将CDG1基因定位到染色体区域16p13的一个13厘摩区间。在本研究中，对来自9个国家的44个CDG I家系进行了分析，使用了从标记D16S495到D16S497区域内的可用标记，并进行了单倍型和连锁不平衡分析。发现一种特定的单倍型在斯堪的纳维亚半岛一个地理上不同区域的CDG I患者中明显过度出现，强烈表明该区域的CDG I家系共享相同的祖先CDG1突变。此外，对这些家系中常见单倍型范围的分析表明，CDG1基因位于由标记D16S513-AFMa284wd5-D16S768-D16S406-D16S502定义的区域内。关键的CDG1区域与标记AFMa284wd5、D16S768和D16S406存在强连锁不平衡，因此在我们之前定义的CDG1区域的最远端构成不到1兆碱基的DNA和不到1厘摩的区域。
