Haplogroup distribution and Polymorphism in the non-coding region of human Mitochondrial DNA in patients harboring the primary G11778A, G3460A, T14484C mutations
- سال انتشار: 1384
- محل انتشار: چهارمین همایش ملی بیوتکنولوژی ایران
- کد COI اختصاصی: NBCI04_027
- زبان مقاله: انگلیسی
- تعداد مشاهده: 2300
نویسندگان
Medical Genetic Department, National Institute for Genetic Engineering and Biotechnology
Medical Genetic Department, National Institute for Genetic Engineering and Biotechnology
Farabi eye Hospital
Medical Genetic Department, National Institute for Genetic Engineering and Biotechnology
چکیده
Leber hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. It is caused by three primary point mutations including G11778A, G3460A, and T14484C in the mitochondrial genome (mtDNA). These three mutations account for the majority of LHON cases and they affect genes that encode for different subunits of mitochondrial complex I. Human mitochondrial DNA (mtDNA) is double-stranded closed circular molecule present 1000-10000 copies per cell. 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.کلیدواژه ها
MtDNA; LHON; Haplogroup; D-loopمقالات مرتبط جدید
اطلاعات بیشتر در مورد COI
COI مخفف عبارت CIVILICA Object Identifier به معنی شناسه سیویلیکا برای اسناد است. COI کدی است که مطابق محل انتشار، به مقالات کنفرانسها و ژورنالهای داخل کشور به هنگام نمایه سازی بر روی پایگاه استنادی سیویلیکا اختصاص می یابد.
کد COI به مفهوم کد ملی اسناد نمایه شده در سیویلیکا است و کدی یکتا و ثابت است و به همین دلیل همواره قابلیت استناد و پیگیری دارد.