Basic & Clinical Medicine ›› 2011, Vol. 31 ›› Issue (1): 37-40.

• 研究论文 • Previous Articles     Next Articles

Dynamic Mutation of IT15 gene and Detection of mtDNA D-loop Hypervariable Region in Two HD pedigrees

LI Xin-wei 1,LIU Jian-xin 2,HUANG Yue-li 2,CHEN Xiao-lei 2,CHEN Hui 2,LI Xiao-wen 3   

  1. 1. Luohe Medical College2. 3. College of Basic Medical Sciences ,Zhengzhou University
  • Received:2010-02-24 Revised:2010-04-18 Online:2011-01-05 Published:2011-01-05
  • Contact: LI Xiao-wen

Abstract: Objects To study the relationship between the mitochondrial DNA (mtDNA) D-loop mutation and Huntington Disease. Methords (CAG)n repeat size and mtDNA D-loop fragment deletion or insertion were detected by PCR-DNA sequencing in two HD pedigree. Results normal individuals (CAG)n≤18 times, patient’s abnormal n≥40 times. There were no fragment deletion and insertion in the mitochondrial control region. Conclusions: Big fragment’s recombination in mtDNA control region maybe isn’t the important factor in HD pathogenic mechanism.

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