Neumer C, Brandt R, Lendeckel U, Zühlke H, Rjasanowski I, Michaelis D
Institute of Biochemistry, Ernst Moritz Arndt University Greifswald, GDR.
Biomed Biochim Acta. 1988;47(4-5):311-5.
A polymorphic DNA sequence flanking the 5'-region of the human insulin gene was studied by means of Southern blot hybridization techniques in 92 diabetic and non-diabetic individuals in order to investigate the possible relation of their allelic variants to certain types of diabetes. DNA was isolated from nucleated blood cells and digested with the restriction endonucleases EcoRI or Bg1 I. Only two classes of alleles were found (U and L). The small L-allele was predominantly found with the following frequency: 0.64 in controls, 0.795 in insulin-dependent diabetics, and 0.625 in non-dependent patients. It could be demonstrated that the L-allele and IDDM are associated. These data suggest that this allele seems to be a genetic marker for insulin-dependent diabetes mellitus. The putative function of the polymorphic region in the aetiology of diabetes mellitus and the possible genes being in linkage disequilibrium with it are not known so far.
为了研究人类胰岛素基因5'区域侧翼的多态性DNA序列的等位基因变体与某些类型糖尿病之间的可能关系，我们运用Southern印迹杂交技术对92名糖尿病患者和非糖尿病患者进行了研究。从有核血细胞中分离出DNA，并用限制性内切酶EcoRI或Bg1 I进行消化。结果仅发现两类等位基因（U和L）。小的L等位基因的主要出现频率如下：对照组为0.64，胰岛素依赖型糖尿病患者为0.795，非胰岛素依赖型患者为0.625。可以证明L等位基因与胰岛素依赖型糖尿病相关。这些数据表明，该等位基因似乎是胰岛素依赖型糖尿病的一个遗传标记。到目前为止，尚不清楚该多态性区域在糖尿病病因学中的假定功能以及与之处于连锁不平衡状态的可能基因。
