Elsevier

Mitochondrion

Volume 1, Issue 6, October 2002, Pages 479-483
Mitochondrion

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

https://doi.org/10.1016/S1567-7249(02)00014-4Get rights and content

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.

Introduction

A 9-bp deletion observed between the COII and tRNALys genes of the mitochondrial DNA (mtDNA, region V) is typical for East Asian (Wrischnik et al., 1987) or for American Indian (Horai et al., 1993; Lorentz and Smith, 1994) populations but extremely rare in aboriginal Siberians (Derenko and Sheilds, 1998, Torroni et al., 1993). This deletion was one of the genetic markers used to reconstruct the likely patterns of distribution of Asian-derived populations around the Pacific basin. However, an independent occurrence of the 9-bp deletion in various areas was considered quite probable for African (Soodyall et al., 1996) or European (Thomas et al., 1998, Torroni et al., 1995) populations, among others. To our knowledge, so far no evidence of this mtDNA mutation has been obtained for the Slavs. It was not found in mtDNA samples obtained from 122 Russians (Petrishchev and Kutueva, 1993). We described a Russian family of Slavic origin, with the 9-bp deletion in mtDNA region V associated to a long C-stretch in the D-loop and to mtDNA mutations corresponding to a new branch of the T haplogroup, as defined by Macaulay et al. (1999). One member of this family presented the Kearns–Sayre syndrome (Holt et al., 1988) with a 5.5 kb deletion in the mtDNA.

Section snippets

Materials and methods

DNA was extracted from buffy coat of a 19-year-old male patient with Kearns–Sayre syndrome and of his healthy mother's. Biopsy from the patient's Musculus deltoideus was also obtained. The 9-bp deletion was detected by polymerase chain reaction (PCR) amplification of the mtDNA COII-tRNALys intergenic region V between positions 8195 and 8316 using: 5′-CACAGTTTCATGCCCATCGTC-3′ and 5′-ATGCTAAGTTAGCTTTACAGTGGG-3′, as forward and reverse primers, respectively. The PCR product was separated on 3%

Results and discussion

The patient presented neurological symptoms typical of the Kearns–Sayre syndrome (Holt et al., 1988). The patient's mtDNA extracted from his blood or from a muscle biopsy contained an heteroplasmic 5.5 Kb deletion similar to those reported in other similar patients, encompassing nucleotides 8278–13,770 of the mtDNA (Anderson et al., 1981). This large deletion was not found in the mother's mtDNA. Characterization of the patient's mtDNA revealed a 9-bp deletion in the intergenic mtDNA region V

Acknowledgements

This work was supported by the ‘Rhône-Alpes Région’ (grant to V.A.S), by the ‘Centre National de la Recherche Scientifique’ and by the ‘Association Française contre les Myopathies’. This study was partially supported by the RFBR grants 01-04-49812 and 00-15-97931.

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