GENETIC STUDIES OF DIABETIC NEPHROPATHY

描述：这是一项研究，以确定糖尿病肾病是否 (DN)与一组候选基因中的任何一个有遗传联系 其在肾脏中的功能表明其在遗传易感性中的作用， 并使用微阵列技术来识别基因， 在有和没有DN的糖尿病患者的肾脏中表达。的cdna 候选基因，以及来自肾脏cDNA文库的随机克隆， 进行筛选。先前确定的候选基因和其他已知基因 不被认为是候选人的，将通过本测试确定， 差异表达也有可能是以前未知的基因 将以这种方式识别。所有这些基因都将被赋予高 在这些测试中优先考虑和额外的审查与DN的联系。使用 这些基因和附近区域的每一个的序列信息， 将鉴定基因中和附近的多态性。以测试 调查人员正在召集一个家庭小组， 几个成员具有DN，或者另外适合于连锁分析。 将进行连锁不平衡测试（使用 传递/不平衡检验，TDT），以及在可能的情况下，受影响的同胞 对和其他同胞对测试方法。

DESCRIPTION: This is a study to determine whether diabetic nephropathy (DN) is genetically linked to any of a set of proposed candidate gene whose function in the kidney suggests a role in genetic susceptibility, and to use microarray technology to identify genes that are differentially expressed in the kidneys of diabetics with and without DN. cDNAs for candidate genes, as well as random clones from a kidney cDNA library, will be screened. Previously identified candidate genes, and other known genes that were not considered candidates, will be identified by this test for differential expression. It is also possible that previously unknown genes will be identified in this way. All of these genes will be given high priority and extra scrutiny in these tests for linkage with DN. Using sequence information for each of these genes and nearby regions, polymorphisms in and near the genes will be identified. To test for linkage, the investigators are assembling a panel of families that have several members with DN, or are otherwise suitable for linkage analysis. Tests will be carried out for linkage disequilibrium (using the transmission/disequilibrium test, TDT) and where possible, affected sib pair and other sib pair test methods.