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