title: 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.
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.
authors.affiliation: Institute for Experimental Medicine, Pavlov street 12, 197376 Saint Petersburg, Russia.
authors.forename: Vassilina A
authors.initials: VA
authors.lastname: Sokolova
authors.forename: Vadim B
authors.initials: VB
authors.lastname: Vasilyev
authors.forename: Thomas
authors.initials: T
authors.lastname: Delefosse
authors.forename: Catherine
authors.initials: C
authors.lastname: Hänni
authors.forename: Dominique
authors.initials: D
authors.lastname: Rochet
authors.forename: Catherine
authors.initials: C
authors.lastname: Godinot