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A Russian family of Slavic origin carrying mitochondrial DNA with a 9-bp deletion in region V and a long C-stretch in D-loop
Mitochondrion ( IF 3.9 ) Pub Date : 2002-10-01 , DOI: 10.1016/s1567-7249(02)00014-4
Vassilina A Sokolova 1 , Vadim B Vasilyev , Thomas Delefosse , Catherine Hänni , Dominique Rochet , Catherine Godinot
Affiliation  

A 9-bp deletion first described in the mitochondrial DNA (mtDNA) for East Asian, Polynesian or Indian American populations of the B haplogroup is now discovered in Slavs. The Russian family carrying that deletion belongs to a new branch of the T haplogroup as deduced from D-loop sequence and haplogroup-specific restriction fragment length polymorphism analysis. One family member had a Kearns-Sayre syndrome with a 5.5 kb mtDNA deletion. This family also presented a long C-stretch in the D-loop. Whether or not the formation of the 5.5 kb deletion might be related to the 9-bp deletion or to the long C-stretch in the D-loop is discussed.

中文翻译:

俄罗斯斯拉夫家族携带线粒体 DNA,V 区缺失 9 bp,D 环有长 C 段

现在在斯拉夫人中发现了 B 单倍群的东亚、波利尼西亚或印度裔美国人的线粒体 DNA (mtDNA) 中首次描述的 9 bp 缺失。根据 D 环序列和单倍群特异性限制性片段长度多态性分析推断,携带该缺失的俄罗斯家族属于 T 单倍群的一个新分支。一名家庭成员患有 Kearns-Sayre 综合征,mtDNA 缺失 5.5 kb。该系列还在 D 环中呈现了长 C 形拉伸。讨论了 5.5 kb 缺失的形成是否可能与 9 bp 缺失或 D 环中的长 C 延伸有关。
更新日期:2002-10-01
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