Basic & Clinical Medicine ›› 2011, Vol. 31 ›› Issue (1): 37-40.
• 研究论文 • Previous Articles Next Articles
LI Xin-wei 1,LIU Jian-xin 2,HUANG Yue-li 2,CHEN Xiao-lei 2,CHEN Hui 2,LI Xiao-wen 3
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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.
CLC Number:
R394.3
LI Xin-wei ;LIU Jian-xin ;HUANG Yue-li ;CHEN Xiao-lei ;CHEN Hui ;LI Xiao-wen . Dynamic Mutation of IT15 gene and Detection of mtDNA D-loop Hypervariable Region in Two HD pedigrees[J]. Basic & Clinical Medicine, 2011, 31(1): 37-40.
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http://journal11.magtechjournal.com/Jwk_jcyxylc/EN/Y2011/V31/I1/37