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Sokolova VA, Vasilyev VB, Delefosse T, et al. 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. 2002;1(6):479-83doi: 10.1016/s1567-7249(02)00014-4.
Sokolova, V. A., Vasilyev, V. B., Delefosse, T., Hänni, C., Rochet, D., & Godinot, C. (2002). 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, 1(6), 479-83. https://doi.org/10.1016/s1567-7249(02)00014-4
Sokolova, Vassilina A, et al. "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 vol. 1,6 (2002): 479-83. doi: https://doi.org/10.1016/s1567-7249(02)00014-4
Sokolova VA, Vasilyev VB, Delefosse T, Hänni C, Rochet D, Godinot C. 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. 2002 Oct;1(6):479-83. doi: 10.1016/s1567-7249(02)00014-4. PMID: 16120300.
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Mitochondrion. 2002 Oct;1(6):479-83. doi: 10.1016/s1567-7249(02)00014-4.

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

Vassilina A Sokolova, Vadim B Vasilyev, Thomas Delefosse, Catherine Hänni, Dominique Rochet, Catherine Godinot

Affiliations

  1. Institute for Experimental Medicine, Pavlov street 12, 197376 Saint Petersburg, Russia.

PMID: 16120300 DOI: 10.1016/s1567-7249(02)00014-4

Abstract

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.

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