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发明公开
CN110452979A 一种影响人扩张型心肌病诊治的TTNG20137T突变及其应用 审中-实审

一种影响人扩张型心肌病诊治的TTNG20137T突变及其应用
摘要：
本发明属于分子生物技术和分子遗传领域，特别涉及一种影响人类扩张型心肌病辅助诊断及临床干预的错义突变及其应用。所述影响人类扩张型心肌病辅助诊断及预后的错义突变的突变位点对应于人类TTN基因编码区第20137位核苷酸位点G>T，命名为c.G20137T。本发明还提供了一种用于鉴定上述错义突变的引物，公开了鉴定前述错义突变在人类扩张型心肌病辅助诊断及临床干预中的用途，以及鉴定该错义突变用于人类扩张型心肌病产前诊断的方法。本发明的优点在于为防治扩张型心肌病提供了新的治疗靶点，为扩张型心肌病的早期诊断及预后判断提供了强有力的分子生物学工具，具有深远的临床意义和重要的推广前景。
摘要（英）：

The invention belongs to the fields of molecular biotechnology and molecular inheritance, and particularly relates to a missense mutation influencing human dilated cardiomyopathy auxiliary diagnosis and clinical intervention and an application thereof. The mutation site of the missense mutation influencing the auxiliary diagnosis and prognosis of the human dilated cardiomyopathy corresponds to the20137th nucleotide site G > T of a coding region of the human TTN gene, and is named as c.G20137T. The invention also provides a primer for identifying the missense mutation, and discloses an application of the missense mutation in auxiliary diagnosis and clinical intervention of human dilated cardiomyopathy, and a method for identifying the missense mutation for prenatal diagnosis of human dilated cardiomyopathy. The application has the advantages that a new treatment target is provided for preventing and treating the dilated cardiomyopathy, a powerful molecular biological tool is provided for early diagnosis and prognosis judgment of the dilated cardiomyopathy, and the application has profound clinical significance and important popularization prospects.

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