遗传 ›› 1999, Vol. 21 ›› Issue (1): 16-18.

• 论文 • 上一篇    下一篇

肥厚型心肌病患者心肌mtDNA大片段缺失的探讨

尹桂芝1)张丽容1)李殿富1)张丽珊2) YIN Gui-Zhi1;ZHANG Li-Rong1;LI Dian-Fu1;ZHANG Li-Shan2   

  1. 1.南京铁道医学院附属医院心内科  2.南京铁道医学院生物教研室,南京210009 Nanjing Railway Medical College,Nanjing210009
  • 收稿日期:1900-01-01 出版日期:1999-02-10 发布日期:1999-02-10

Analysis of mtDNA Deletion on Heart Muscles of Hypertrophic Cardiomyopathy Patients

  • Received:1900-01-01 Online:1999-02-10 Published:1999-02-10

摘要: 应用Long PCR及Primer Shift Long PCR 技术对3例肥厚型心肌病(HCM)患者和10例正常引产胎儿的13份心肌标本予以线粒体 DNA缺失检测,结果在1例HCM患者心肌线粒体DNA中发现约5.0kb缺失,而在正常引产胎儿的标本未见该缺失,提示HCM的发生可能与mtDNA缺失相关。
Astract Using long PCR and primer shift long PCR techniques, we analyzed the mitochondrial DNA (mtDNA) isolated from the heart muscles of 3 hypertrophic cardiomyopathy (HCM) patients and 10 normal abortive fetuses. Almost 5.0kb deletion was found in the heart mtDNA of one HCM patient, while no deletion was detected in that of 10 fetuses. It is concluded that HCM may correlate with mtDNA deletion.

关键词:  Deletion,  Mitochondrial DNA,  缺失 Key words Hypertrophic cardiomyopathy,  线粒体DNA, 肥厚型心肌病, 异附加系, 长穗偃麦草, 等电聚集, RFLP

Key words: Elytrigia elongatum, Isoelectric focusing, RFLP, Addition lines