强直性肌营养不良症的基因诊断

目的探讨强直性肌营养不良症(DM)1型和2型基因诊断准确和有效的方法。方法以20例无血缘关系的DM疑似患者为研究对象,应用长模板聚合酶链反应(PCR)扩增和地高辛标记PCR来源的片段作为探针行DNA印迹法杂交诊断DM1型和DM2型患者。结果确诊4例DM1型患者,未发现DM2型患者,其余患者排除DM1型和DM2型疾病。结论用长模板PCR扩增和地高辛标记探针行DNA印迹法杂交对受检者进行DM基因诊断的准确性和有效性高,适用性广,对于DM的早期诊断和预防,降低DM发病率有重要价值。

The gene diagnosis of myotonic dystrophy

Objective To explore an effective and accurate method for the gene diagnosis of myotonic dystrophy(DM) type one and DM type two.Methods Using of long template PCR and Southern blotting analysis with the probe PCR-derived and DIG-labeled,we detected DM1 and DM2 patients among 20 unrelated DM patients suspected by neurologists.Results We didn′t detect DM2 patient.Four patients were identified to be DM1,the remainders were eliminated DM1 and DM2 diseases.Conclusion The molecular diagnostic method used for checking the suspicious subject by the long template PCR and Southern blotting analysis with the DIG-labeling probe is of satisfactory accuracy and high validity.This method deserves wide applicability and it is of most important significance in the early diagnosis,prediction of DM and reduction of DM incidence.