Different instability of the CAG microsatellite in two haplotype groups of human mitochondrial DNA polymerase gamma |
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| Authors: | B. A. Malyarchuk M. A. Perkova M. V. Derenko |
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| Affiliation: | (1) Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics, Laboratory of Pediatrics and Neurology and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;(2) Department of Child Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;(3) Department of Neurology, Juliana Children’s Hospital, Den Haag, The Netherlands;(4) Department of Pediatrics, Academic Medical Centre Utrecht, Utrecht, The Netherlands;(5) Department of Pediatrics, Klinikum Oldenburg, Oldenburg, Germany;(6) Department of Pediatrics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands |
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| Abstract: | Two single nucleotide polymorphisms of the mitochondrial DNA polymerase gamma gene (POLG1), rs2238296 (T/C) and rs758130 (T/C), were analyzed in individuals of different ethnicity (Russians and Buryats) with known genotypes of the CAG microsatellite located in the same gene. It was shown that microsatellite alleles with repeat numbers other than 10 were significantly more frequent within the TT haplotype. A phylogenetic analysis of human and chimpanzee POLG1 intron 2 sequences suggested that the haplotype TT, which is more heterogeneous regarding the CAG repeat polymorphism, is evolutionally younger than the haplotype CC. These data may be useful in the further research of the association between the CAG microsatellite polymorphism of POLG1 and male infertility. |
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