广西都安瑶族线粒体DNA控制区及Y-STR多态性研究
|
摘要
第一部分 广西都安瑶族线粒体DNA控制区多态性研究
目的 为线粒体DNA(mitochondrial DNA, mtDNA)法医学应用提供群体遗传学数据,扩大mtDNA在个体识别中的应用范围。方法 以南方民族瑶族为研究对象,根据mtDNA控制区及周围区域的序列设计引物,用PCR产物直接测序对105份无关瑶族样本mtDNA控制区进行了测序,通过Sequencing Analysis 3.4和Seq/Ede软件分析比对,得到的序列结果,计算瑶族mtDNA单倍型的识别率,并应用MEGA 2软件对数据做进化距离分析,构建系统发育树。结果 对样本的mtDNA控制区序列进行了统计分析,共检出141个变异点,平均变异数10.5个,发现3处点异质性。整个序列个体识别率为0.9747,变异度为0.9841。除了HVⅠ、HVⅡ及HVⅢ外,发现瑶族mtDNA控制区还存在其它的相对高变区。瑶族mtDNA控制区序列与其他民族相比,均存在一定差异。系统发育树显示,瑶族大体出现5个聚类簇,每个聚类簇各有特点。结论 瑶族mtDNA控制区检出3个点异质性,并发现存在其他相对高变区。群体遗传学数据提示瑶族与蒙古人种有较近的亲缘关系。本研究为法医学及系统发育学研究提供了基础的群体遗传学数据。
Objective In order to obtain the data of sequence variation of Yao ethnic group mtDNA from Du'an of Guangxi and extend the application scope of mtDNA in idividual identification. Method 105 unrelated individuals of Yao ethnic group was selected as the investigated object. Direct sequencing of DNA amplified by PCR was used with the primers designed according to the sequence of control region and the neighbor region. Sequences were analyzed and compared base on Sequencing Analysis 3.4 and Seq/Ede software. DP of mtDNA in Yao ethnic group was calculated. MAGA2 software was also employed to analyze the genetic distance between samples and construct the phylogenentic tree. Result 141 variation site was found. The mean number of base pair with difference was 10.5. 3 sites of point heteroplasmy were detected. The genetic diversity of population samples and the discrimination power were 0.9841, 0.9747, respectively. The other hypervariable region existed except HVI, HVII and HVIII in Yao ethnic group. Compared with other ethnic groups, there were differences among them. The phylogenetic trees revealed the individuals of this ethnic group could
be divided into 5 clusters, each of which had its own characteristic. Conclusion 3 sites of point heteroplasmy were detected. Another hypervariable region was found except HVI, HVII and HVDl in Yao ethnic group. The genetic data supported Yao ethnic group was close to Mongoloid ethnic groups. The genetic data of mtDNA was valuable in the study of forensic science and phylogenetics.
目的 为线粒体DNA(mitochondrial DNA, mtDNA)法医学应用提供群体遗传学数据,扩大mtDNA在个体识别中的应用范围。方法 以南方民族瑶族为研究对象,根据mtDNA控制区及周围区域的序列设计引物,用PCR产物直接测序对105份无关瑶族样本mtDNA控制区进行了测序,通过Sequencing Analysis 3.4和Seq/Ede软件分析比对,得到的序列结果,计算瑶族mtDNA单倍型的识别率,并应用MEGA 2软件对数据做进化距离分析,构建系统发育树。结果 对样本的mtDNA控制区序列进行了统计分析,共检出141个变异点,平均变异数10.5个,发现3处点异质性。整个序列个体识别率为0.9747,变异度为0.9841。除了HVⅠ、HVⅡ及HVⅢ外,发现瑶族mtDNA控制区还存在其它的相对高变区。瑶族mtDNA控制区序列与其他民族相比,均存在一定差异。系统发育树显示,瑶族大体出现5个聚类簇,每个聚类簇各有特点。结论 瑶族mtDNA控制区检出3个点异质性,并发现存在其他相对高变区。群体遗传学数据提示瑶族与蒙古人种有较近的亲缘关系。本研究为法医学及系统发育学研究提供了基础的群体遗传学数据。
Objective In order to obtain the data of sequence variation of Yao ethnic group mtDNA from Du'an of Guangxi and extend the application scope of mtDNA in idividual identification. Method 105 unrelated individuals of Yao ethnic group was selected as the investigated object. Direct sequencing of DNA amplified by PCR was used with the primers designed according to the sequence of control region and the neighbor region. Sequences were analyzed and compared base on Sequencing Analysis 3.4 and Seq/Ede software. DP of mtDNA in Yao ethnic group was calculated. MAGA2 software was also employed to analyze the genetic distance between samples and construct the phylogenentic tree. Result 141 variation site was found. The mean number of base pair with difference was 10.5. 3 sites of point heteroplasmy were detected. The genetic diversity of population samples and the discrimination power were 0.9841, 0.9747, respectively. The other hypervariable region existed except HVI, HVII and HVIII in Yao ethnic group. Compared with other ethnic groups, there were differences among them. The phylogenetic trees revealed the individuals of this ethnic group could
be divided into 5 clusters, each of which had its own characteristic. Conclusion 3 sites of point heteroplasmy were detected. Another hypervariable region was found except HVI, HVII and HVDl in Yao ethnic group. The genetic data supported Yao ethnic group was close to Mongoloid ethnic groups. The genetic data of mtDNA was valuable in the study of forensic science and phylogenetics.
引文
1. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature, 1981, 290(5806): 457-65.
2. Ballinger SW, Shoffner JM, Hedaya EV, et al. Matemally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet, 1992, 1(1): 11-5.
3. Ballinger SW, Shoffner JM, Gebhart S, et al. Mitochondrial diabetes revisited. Nat Genet, 1994, 7(4): 458-9.
4. Lamminen T, Majander A, Juvonen V, et al. A mitochondrial mutation at nt9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am J Hum Genet, 1995, 56(5): 1238-40.
5. Kobayashi Y, Sharpe H, Brown N. Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy. Am J Hum Genet, 1994, 55(1): 206-9.
6. Lestienne P, Nelson J, Riederer P, et al. Normal mitochondrial genome in brain from patients with Parkinson's disease and complex I defect. J Neurochem, 1990, 55(5): 1810-2.
7. Di Monte DA. Mitochondrial DNA and Parkinson's disease. Neurology, 1991, 41(5 Suppl 2): 38-42.
8. Greenberg BD, Newbold IE, Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Genet, 1983, 21: 33-49.
9. Crespillo M, Luque JA, Paredes M, et al. Mitochondrial DNA sequences for 118 individuals from northeastern Spain. Int J Legal Med, 2000, 114(-2): 130-2.
10. Pereira L. The slave trade to Europe and Brazil from the westen and easten Afdca coasts as registered in the mtDNA pool. Program and Abstracts 19th International Congress ISFG, 2001.
11. Carraccdo A, Bar W, Lincoln P, et al. DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing, Forensic Sci Int, 2000, 110: 79-85.
12. Tully G, Bar W, Brinkmann B, et al. Considerations by European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles. Forensic Sci Int, 2001, 124: 83-91.
13. Wilson MR, Allard MW, Monson K, et al. Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region. Forensic Sci Int, 2002, 129: 35-42.
14.余跃生,姚永刚,孔庆鹏,等.贵州水族人群线粒体DNA序列多态分折.遗传学报,2001,28(8):691-698.
15.袁志刚,姚永刚,马志雄,等.广西壮族人群线粒体DNA序列遗传多态性分析.遗传学报,2001,28(2):95-102.
16.李永念,左丽,文波,等.中国布依族人的起源及迁移初探——来自Y染色体和线粒体的线索.遗传学报,2002,29(3):196-200.
17.钱亚屏,褚嘉佑,初正韬,等.应用线粒体DNA D—loop区遗传多样性分析云南4个少数民族的遗传关系.遗传学报,2001,28(4):291-300.
18.唐晖,刘雅诚,马万山,等.北京汉族群体线粒体DNA高变区的多态性.中国法医学杂志,2002,17(1):32-33.
19. Salas A, Rasmussen EM, Lareu MV, et al. Fluorescent SSCP of overlapping fragments (FSSCP-OF): a highly sensitive method for the screening of mitochomdrial DNA variation. Forensic Sci Int, 2001, 124(2-3): 97-103.
20. M Nei, F Tajima. DNA polymorphism detectable by restriction endonucleases. Genetics, 1981, 97: 145-63.
21.《瑶族简史》编写组.瑶族简史.南宁:广西人民出版社.1983年.
22.张有隽.瑶族历史与文化.南宁:广西人民出版社.1983年.
23.都安瑶族自治县志编纂委员会.都安瑶族自治县志.南宁:广西人民出版社,2001.
24.[美]J.萨姆布鲁克,D.W.拉塞尔著,黄培堂等译.分子克隆实验指南,第三版.北京:科学出版社,2002,699.
25. Lundberg KS, Shoemaker DD, Aetams MWW, et al. High-fidelity amplification using a thermostable DNA polymerase isolated from Pyrococcus furiosus. Gene, 1991, 108: 1-6.
26. Mattila P, Korpela J, Tenkanen T, et al. Fidelity of DNA synthesis by the Thermococcus litoralis DNA polymerase-An extremely heat stable enzyme with proofreading activity. Nucleic Acids Res, 1991, 19: 4967-4973.
27. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A, 1977, 74(12): 5463-7.
28. Carracedo A, Aloja ED, Dupuy B, et al. Reproducibility of mtDNA analysis between laboratories: a report of the European DNA profiling group (EDNAP). Forensic Sci Int, 1998, 97: 165-170.
29. Gabriel MN, Calloway CD, Reynolds RL, et al. Population variation of human mitochondrial DNA hypervariable regions Ⅰ and Ⅱ in 105 Croatian individual demonstrated by immobilized sequence-specific oligonucleotide probe analysis. Croat Med J, 2001, 42(3): 328-35.
30. Ross PL, Lee K, Belgrader P. Discrimination of single-nucleotide polymorphisms in human DNA using peptide nucleic acid probes detected by MALDI-TOF mass spectrometry. Anal Chem, 1997, 69(20): 4197-202.
31. van Den Bosch BJ, de Coo RF, Scholte HR, et al. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res, 2000, 28(20): E89.
32. Vigilant L, Pennington R, Harpending H, et al. Mitochondrial DNA sequences in single hairs from a southern African population. Proc. Natl. Acad. Sci. USA, 1989, 86(23): 9350-54.
33.马万山、唐晖、刘雅诚等.中国海南黎族群体mtDNA控制区多态性.中国法医学杂志.2003,18(1):41-42.
34.唐晖著.法医线粒体DNA分型及中国不同民族多态性研究[博士论文].侯一平教授指导.
35.[美]Masatochi Nei,Sudhir Kumar著,吕宝忠等译.分子进化与系统发育.北京:高等教育出版社.2002,69.
36.曹显明 王克松.贵州8个民族6种不对称行为特征的群体遗传学研究.黔南民族医专学报.2002,15(3):125-128.
37.吴融酉.瑶族体质形态的初步研究.见:中国人类学学会编,中国八个民族体质调查报告.昆明:昆明人民出版社.1982.
38.吴立扑主编.中国西南少数民族皮纹学.贵州:贵州科技出版社.1991.
39. Koyama H, Iwasa M, Maeno Y, et al, Mitochondrial sequence haplotype in the Japanese population. Forensic Sci Int, 2002, 125: 93-96.
40. Anne Baasner, Burkhard Madea. Sequence Polymorphism of the mitochondrial DNA control region in 100 German Caucasians. J Forensic Sci, 2000, 46(6): 1343.
41. Mountain JL, Hebert JM, Bhattacharyya S, et al. Demographic history of India and mtDNA-sequence diversity. Am. J. Hum. Genet, 1996, 56: 979-992.
42. Lutz S, Joachim H, Heizmann WJ, et al. Mitochondrial heteroplasmy among maternally related individuals. Int J Legal Med, 2000, 113:155-161.
43. Tully LA, Parsons TJ, Steighner RJ, et al. A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervadable region 1 of the human mtDNA control region. Am J Hum Genet, 2000, 67(2): 432-43.
44. Huhne J, Pfeiffer H, Brinkmann B. Heteroplasmic substitutions in the mitochondrial DNA control region in mother and child samples. Int J Legal Med, 1999, 112(1):27-30.
45. Nickerson DA, Tobe VO, Taylor SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequncing. Nucleic Acids Res, 1997, 25: 2745-51.
46. Calloway CD, Reynolds RL, Herrin GL Jr, et al. The frequency of heteroplasmy in the HV region of mtDNA differs across tissue types and increases with age. Am J Hum Genet, 2000, 66(4): 1384-97.
47. Siguroardottir Sigrun, Agnar Helgasin, Jeffrey R. Gulcher. The mutation rate in the human mtDNA control region. Am. J. Hum. Genet, 2000, 66: 1599-1609.
48. Bendall KE, Macaulay VA, Sykes BC. Variable levels of a heteroplasmic point mutation in individual hair roots. Am J Hum Genet, 1997, 61(6): 1303-8.
49. Ivanov PL, Wadhams MJ, Roby RK, et al. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas Nat Genet 1996, 12(4): 417-200.
50. Gill P, Ivanov PL, Kimptom C, et al. Identification of the remains of the Romanov family by DNA analysis. Nature Genet, 1994, 6: 130-135.
51. Holland MM, Fisher DL, Mitchell LG, et al. Mitochondrial DNA sequence analysis of human skeletal remains: identification of remains from the Vietnam war. J Forensic Sci, 1993, 38: 542-553.
52. Budowle B, Wilson MR, Dizinno JA, et al. Mitochondrial DNA regions HVⅠ and HVⅡ population data. Forensic Sci. Int, 1999, 12: 23-35.
53. Yao Yong-Gang, Bravi Claudio M, Bandelt Hans-Jurgen. A call for mtDNA data quality control in forensic science. Forensic Sci Int, 2004, 141(1): 1-6.
54. Stewart JEB, Fisher CLP, Aagaard J, et al. Length variation in HV2 of the human mitochondrial DNA control region. J Forensic Sci, 2001, 46(4): 862-870.
2. Ballinger SW, Shoffner JM, Hedaya EV, et al. Matemally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet, 1992, 1(1): 11-5.
3. Ballinger SW, Shoffner JM, Gebhart S, et al. Mitochondrial diabetes revisited. Nat Genet, 1994, 7(4): 458-9.
4. Lamminen T, Majander A, Juvonen V, et al. A mitochondrial mutation at nt9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am J Hum Genet, 1995, 56(5): 1238-40.
5. Kobayashi Y, Sharpe H, Brown N. Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy. Am J Hum Genet, 1994, 55(1): 206-9.
6. Lestienne P, Nelson J, Riederer P, et al. Normal mitochondrial genome in brain from patients with Parkinson's disease and complex I defect. J Neurochem, 1990, 55(5): 1810-2.
7. Di Monte DA. Mitochondrial DNA and Parkinson's disease. Neurology, 1991, 41(5 Suppl 2): 38-42.
8. Greenberg BD, Newbold IE, Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Genet, 1983, 21: 33-49.
9. Crespillo M, Luque JA, Paredes M, et al. Mitochondrial DNA sequences for 118 individuals from northeastern Spain. Int J Legal Med, 2000, 114(-2): 130-2.
10. Pereira L. The slave trade to Europe and Brazil from the westen and easten Afdca coasts as registered in the mtDNA pool. Program and Abstracts 19th International Congress ISFG, 2001.
11. Carraccdo A, Bar W, Lincoln P, et al. DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing, Forensic Sci Int, 2000, 110: 79-85.
12. Tully G, Bar W, Brinkmann B, et al. Considerations by European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles. Forensic Sci Int, 2001, 124: 83-91.
13. Wilson MR, Allard MW, Monson K, et al. Recommendations for consistent treatment of length variants in the human mitochondrial DNA control region. Forensic Sci Int, 2002, 129: 35-42.
14.余跃生,姚永刚,孔庆鹏,等.贵州水族人群线粒体DNA序列多态分折.遗传学报,2001,28(8):691-698.
15.袁志刚,姚永刚,马志雄,等.广西壮族人群线粒体DNA序列遗传多态性分析.遗传学报,2001,28(2):95-102.
16.李永念,左丽,文波,等.中国布依族人的起源及迁移初探——来自Y染色体和线粒体的线索.遗传学报,2002,29(3):196-200.
17.钱亚屏,褚嘉佑,初正韬,等.应用线粒体DNA D—loop区遗传多样性分析云南4个少数民族的遗传关系.遗传学报,2001,28(4):291-300.
18.唐晖,刘雅诚,马万山,等.北京汉族群体线粒体DNA高变区的多态性.中国法医学杂志,2002,17(1):32-33.
19. Salas A, Rasmussen EM, Lareu MV, et al. Fluorescent SSCP of overlapping fragments (FSSCP-OF): a highly sensitive method for the screening of mitochomdrial DNA variation. Forensic Sci Int, 2001, 124(2-3): 97-103.
20. M Nei, F Tajima. DNA polymorphism detectable by restriction endonucleases. Genetics, 1981, 97: 145-63.
21.《瑶族简史》编写组.瑶族简史.南宁:广西人民出版社.1983年.
22.张有隽.瑶族历史与文化.南宁:广西人民出版社.1983年.
23.都安瑶族自治县志编纂委员会.都安瑶族自治县志.南宁:广西人民出版社,2001.
24.[美]J.萨姆布鲁克,D.W.拉塞尔著,黄培堂等译.分子克隆实验指南,第三版.北京:科学出版社,2002,699.
25. Lundberg KS, Shoemaker DD, Aetams MWW, et al. High-fidelity amplification using a thermostable DNA polymerase isolated from Pyrococcus furiosus. Gene, 1991, 108: 1-6.
26. Mattila P, Korpela J, Tenkanen T, et al. Fidelity of DNA synthesis by the Thermococcus litoralis DNA polymerase-An extremely heat stable enzyme with proofreading activity. Nucleic Acids Res, 1991, 19: 4967-4973.
27. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A, 1977, 74(12): 5463-7.
28. Carracedo A, Aloja ED, Dupuy B, et al. Reproducibility of mtDNA analysis between laboratories: a report of the European DNA profiling group (EDNAP). Forensic Sci Int, 1998, 97: 165-170.
29. Gabriel MN, Calloway CD, Reynolds RL, et al. Population variation of human mitochondrial DNA hypervariable regions Ⅰ and Ⅱ in 105 Croatian individual demonstrated by immobilized sequence-specific oligonucleotide probe analysis. Croat Med J, 2001, 42(3): 328-35.
30. Ross PL, Lee K, Belgrader P. Discrimination of single-nucleotide polymorphisms in human DNA using peptide nucleic acid probes detected by MALDI-TOF mass spectrometry. Anal Chem, 1997, 69(20): 4197-202.
31. van Den Bosch BJ, de Coo RF, Scholte HR, et al. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res, 2000, 28(20): E89.
32. Vigilant L, Pennington R, Harpending H, et al. Mitochondrial DNA sequences in single hairs from a southern African population. Proc. Natl. Acad. Sci. USA, 1989, 86(23): 9350-54.
33.马万山、唐晖、刘雅诚等.中国海南黎族群体mtDNA控制区多态性.中国法医学杂志.2003,18(1):41-42.
34.唐晖著.法医线粒体DNA分型及中国不同民族多态性研究[博士论文].侯一平教授指导.
35.[美]Masatochi Nei,Sudhir Kumar著,吕宝忠等译.分子进化与系统发育.北京:高等教育出版社.2002,69.
36.曹显明 王克松.贵州8个民族6种不对称行为特征的群体遗传学研究.黔南民族医专学报.2002,15(3):125-128.
37.吴融酉.瑶族体质形态的初步研究.见:中国人类学学会编,中国八个民族体质调查报告.昆明:昆明人民出版社.1982.
38.吴立扑主编.中国西南少数民族皮纹学.贵州:贵州科技出版社.1991.
39. Koyama H, Iwasa M, Maeno Y, et al, Mitochondrial sequence haplotype in the Japanese population. Forensic Sci Int, 2002, 125: 93-96.
40. Anne Baasner, Burkhard Madea. Sequence Polymorphism of the mitochondrial DNA control region in 100 German Caucasians. J Forensic Sci, 2000, 46(6): 1343.
41. Mountain JL, Hebert JM, Bhattacharyya S, et al. Demographic history of India and mtDNA-sequence diversity. Am. J. Hum. Genet, 1996, 56: 979-992.
42. Lutz S, Joachim H, Heizmann WJ, et al. Mitochondrial heteroplasmy among maternally related individuals. Int J Legal Med, 2000, 113:155-161.
43. Tully LA, Parsons TJ, Steighner RJ, et al. A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervadable region 1 of the human mtDNA control region. Am J Hum Genet, 2000, 67(2): 432-43.
44. Huhne J, Pfeiffer H, Brinkmann B. Heteroplasmic substitutions in the mitochondrial DNA control region in mother and child samples. Int J Legal Med, 1999, 112(1):27-30.
45. Nickerson DA, Tobe VO, Taylor SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequncing. Nucleic Acids Res, 1997, 25: 2745-51.
46. Calloway CD, Reynolds RL, Herrin GL Jr, et al. The frequency of heteroplasmy in the HV region of mtDNA differs across tissue types and increases with age. Am J Hum Genet, 2000, 66(4): 1384-97.
47. Siguroardottir Sigrun, Agnar Helgasin, Jeffrey R. Gulcher. The mutation rate in the human mtDNA control region. Am. J. Hum. Genet, 2000, 66: 1599-1609.
48. Bendall KE, Macaulay VA, Sykes BC. Variable levels of a heteroplasmic point mutation in individual hair roots. Am J Hum Genet, 1997, 61(6): 1303-8.
49. Ivanov PL, Wadhams MJ, Roby RK, et al. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas Nat Genet 1996, 12(4): 417-200.
50. Gill P, Ivanov PL, Kimptom C, et al. Identification of the remains of the Romanov family by DNA analysis. Nature Genet, 1994, 6: 130-135.
51. Holland MM, Fisher DL, Mitchell LG, et al. Mitochondrial DNA sequence analysis of human skeletal remains: identification of remains from the Vietnam war. J Forensic Sci, 1993, 38: 542-553.
52. Budowle B, Wilson MR, Dizinno JA, et al. Mitochondrial DNA regions HVⅠ and HVⅡ population data. Forensic Sci. Int, 1999, 12: 23-35.
53. Yao Yong-Gang, Bravi Claudio M, Bandelt Hans-Jurgen. A call for mtDNA data quality control in forensic science. Forensic Sci Int, 2004, 141(1): 1-6.
54. Stewart JEB, Fisher CLP, Aagaard J, et al. Length variation in HV2 of the human mitochondrial DNA control region. J Forensic Sci, 2001, 46(4): 862-870.