人胰岛素基因侧翼区域序列及修饰状态的变异

Ullrich A, Dull T J, Gray A, Philips J A, Peter S

Nucleic Acids Res. 1982 Apr 10;10(7):2225-40. doi: 10.1093/nar/10.7.2225.

The nucleotide sequence of a highly repetitive sequence region upstream from the human insulin gene is reported. The length of this region varies between alleles in the population, and appears to be stably transmitted to the next generation in a Mendelian fashion. There is no significant correlation between the length of this sequence and two types of diabetes mellitus. We observe variation in the cleavability of a BglI recognition site downstream from the human insulin gene, which is probably due to variable nucleotide modification. This presumed modification state appears not to be inherited, and varies between tissues within an individual and between individuals for a given tissue. Both alleles in a given tissue DNA sample are modified to the same extent.

报道了人类胰岛素基因上游一个高度重复序列区域的核苷酸序列。该区域的长度在人群中的等位基因之间存在差异，并且似乎以孟德尔方式稳定地传递给下一代。该序列的长度与两种类型的糖尿病之间没有显著相关性。我们观察到人类胰岛素基因下游BglI识别位点的可切割性存在差异，这可能是由于可变的核苷酸修饰所致。这种推测的修饰状态似乎不是遗传的，在个体内的不同组织之间以及给定组织的个体之间存在差异。给定组织DNA样本中的两个等位基因被修饰的程度相同。