糖尿病肾病与血管紧张素I转换酶基因多态性的关系

Reltionship between ang iotdensin 1 converting enxyme gene polymorphism and diabetic nephropathy

明确血管紧张素Ｉ转换酶（ＡＣＥ）基因插入／缺失（Ｉ／Ｄ）多态位点与非胰岛素依赖型糖尿病（ＮＩＤＤＭ）及其肾脏合并症发病的关系。方法以ＡＣＥ基因内含子１６的一个２８７ｂｐ的Ａｌｕ顺序Ｉ／Ｄ型为多态标志，用聚合酶链反应（ＰＣＲ）扩增基因片段，１２％非变性聚丙烯酰胺凝胶电泳检测ＰＣＲ产物。结果（１）１２３例ＮＩＤＤＭ与１１０例正常人对照组之间基因频率差异无显著意义；（２）ＮＩＤＤＭ合并肾病与未合并肾病亚组间基因型频率和等位基因频率差异无显著意义，以上均以等位基因Ｉ占优势；（３）ＮＩＤＤＭ发病初期出现的肾病和发病５年以上仍未合并肾病的亚组比较，等位基因Ｄ明显占优势（０．７５），ＤＤ型及ＤＩ型有增多趋势。

Objective To clarify if ACE gene I/D polymorphism attributes to the development of non insulin dependent diabetes mellitus(NIDDM)and renal complication.Methods Afragment f 287 bp Alu sequence in inron 16 of ACE gene was used as I/D polymorphic marker.After PCR amplification of DNA fragment,12% non denatured polyacrylamide gel electrophoresis was undertaken to analyse the PCR products.Results Allele D was the prominent one(frequency 0.75)in the subgroup of DN which was complicated in the earliest stage of NIDDM without HTN,CHD and diabetic retinopathy.However,the frequency of allele Dwas low(0.39)in the subgroup of NIDDM without DN,HTN,CHD and diabetic retinopathy,in which the duration of each subject was over5years.It was significant to compare these two mentioned subgroups( P <0.02,continuity adjusted X 2test, P <0.05),The distribution of genotype in the whole NIDDM group without HTN and CHD(69cases)was very similar to the normal control (110 subjects)(I 0.60 to 0.59,D 0.40 to 0.41).Conclusion The I/D polymorphism of ACE gene may be the factor of genetic predisposition of early onset diabetic nephropathy in Chinese NIDDM.