Zerres K, Rudnik-Schöneborn S
Institut für Humangenetik, Universität Bonn, Germany.
Kidney Blood Press Res. 1996;19(3-4):209-14. doi: 10.1159/000174076.
The molecular genetic defect of many hereditary nephropathies has been assigned to a specific chromosomal region or has even been identified. While the localization of a gene permits an indirect genotype analysis to estimate the risk status of a close relative of a patient with a proven clinical diagnosis, it is not possible to confirm a diagnosis in case of inconclusive clinical data. In some nephropathies, the gene has been cloned and mutations identified. By demonstrating the molecular genetic defect in these patients, the diagnosis can be ensured and an easily assessible method of carrier detection can be offered. The possibilities and limitations of DNA diagnosis in some important nephropathies are outlined.
许多遗传性肾病的分子遗传缺陷已被定位到特定的染色体区域，甚至已被确定。虽然基因定位允许进行间接基因型分析，以估计已确诊临床病例患者近亲的风险状况，但在临床数据不明确的情况下，无法确诊。在某些肾病中，基因已被克隆，突变也已被识别。通过证实这些患者的分子遗传缺陷，可以确保诊断，并提供一种易于检测携带者的方法。本文概述了DNA诊断在一些重要肾病中的可能性和局限性。
