دانلود مقاله Haplogroup distribution and Polymorphism in the non-coding region of human Mitochondrial DNA in patients harboring the primary G11778A, G3460A, T14484C mutations
سال انتشار: ۱۳۸۴
محل انتشار: چهارمین همایش ملی بیوتکنولوژی ایران
تعداد صفحات: ۱۰
Massoud Houshmand – Medical Genetic Department, National Institute for Genetic Engineering and Biotechnology
Mehdi Shafa Shariat Panahi – Medical Genetic Department, National Institute for Genetic Engineering and Biotechnology
Abdol Reza Tabassi – Farabi eye Hospital
Mohammad Hossein Sanati – Medical Genetic Department, National Institute for Genetic Engineering and Biotechnology
Objectives: In order to identify polymorphic sites, genetic background and also to find out any possible association between LHON primary mutations and mtDNA haplogroups (hg), the complete non-coding region of mitochondrial DNA from 30 unrelated LHON patients harboring one of the primary mutations was sequenced. Methods: Alignment were made with the Revised Cambridge Reference Sequence (rCRS) and any differences recorded as single base substitution (SBS), numerical changes in C-tract (PCT), insertions and deletions.
Results: Our results showed that majority of our patients belonged to hg J, T and HV rather than hgs U3, U4, U5 and W, which found only in two patients. (6%)
As compared to insertions and deletions, nucleotide substitutions make up the majority of the mutations. (94.5%) We have predominantly found transitions (79.2%) and a significantly lower frequency of transvertions (15.3%) whereas insertions (5.5%) as well as deletions (0%) are rather rare. Ten polymorphisms were newly identified in this study not published in the mitomap database. Also PCT changes were present in all of our samples.
Conclusions: The analysis presented here for the first time provides evidence that there is association between G3460A with hg W.