heteroplasmy;
human identification;
mitochondrial DNA;
D O I:
10.1002/elps.200390149
中图分类号:
Q5 [生物化学];
学科分类号:
071010 ;
081704 ;
摘要:
The present study demonstrates a reinvestigation of the mitochondrial DNA sequence heteroplasmy, which was previously found by the use of nested polymerase chain reaction (PCR) technique in single hairs of 13 individuals. The direct PCR approach was used for the amplification of mitochondrial DNA and a phylogenetic analysis was applied to both data sets for the verification of the authenticity of sequences. The analysis of the sequencing results obtained from the same hair DNA comparative extracts - but using two different techniques - shows that direct mitochondrial DNA amplification results in a considerably lower number of mixed positions. The majority of the confirmed heteroplasmic variants preferentially occurs in mitochondrial DNA hypervariable sites (mutational hotspots). However, the pattern of heteroplasmic mutations observed in four extracts after nested PCR significantly differs from the pat. tern of natural mutations. Some of these rare polymorphisms should be revised as inconsistent with phylogenetic expectations. The results of the present study contribute to the earlier reports by indicating that phylogenetic analysis is an effective tool in a posteriori quality check of mitochondrial DNA data.
机构:
Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, SpainUniv Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Carracedo, A
;
D'Aloja, E
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
D'Aloja, E
;
Dupuy, B
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Dupuy, B
;
Jangblad, A
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Jangblad, A
;
Karjalainen, M
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Karjalainen, M
;
Lambert, C
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Lambert, C
;
Parson, W
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Parson, W
;
Pfeiffer, H
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Pfeiffer, H
;
Pfitzinger, H
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h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Pfitzinger, H
;
Sabatier, M
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Sabatier, M
;
Court, DS
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机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Court, DS
;
Vide, C
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h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
机构:
Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, SpainUniv Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Carracedo, A
;
D'Aloja, E
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
D'Aloja, E
;
Dupuy, B
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Dupuy, B
;
Jangblad, A
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Jangblad, A
;
Karjalainen, M
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Karjalainen, M
;
Lambert, C
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Lambert, C
;
Parson, W
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Parson, W
;
Pfeiffer, H
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Pfeiffer, H
;
Pfitzinger, H
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Pfitzinger, H
;
Sabatier, M
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Sabatier, M
;
Court, DS
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain
Court, DS
;
Vide, C
论文数: 0引用数: 0
h-index: 0
机构:Univ Santiago de Compostela, Fac Legal Med, Inst Legal Med, Santiago De Compostela 15705, Spain