Mitochondrial DNA regions HVI and HVII population data

Budowle, Bruce; Wilson, Mark; DiZinno, Joseph A.; Stauffer, Clinton; Fasano, Michael A.; Holland, Mitchell M.; Monson, Keith L.

doi:10.1016/s0379-0738(99)00042-0

Cited by 129 publications

(88 citation statements)

References 22 publications

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“…This observation supports the hypothesis that different SNP-type polymorphisms can be strongly associated with a given population. Haplotypes detected in this study group have been compared with other global populations: German (n = 200) (Lutz et al, 1998), US Caucasian (n = 604), Africa (n = 111), Malaysia (n = 195) (Budowle et al, 1999) and India (n = 98) (Mountain et al, 1995) (Table 4). Walsh et al (1991) and Tang (2002) showed that the polymorphisms of mtDNA coding area are less than that of mtDNA control region.…”

Section: Resultsmentioning

confidence: 99%

Detection of novel polymorphisms in the mitochondrial DNA D-Loop hypervariable region HVI from 400 healthy unrelated individuals from central and North-central Iraq

Ameera¹,

Imad²,

Muhanned³

2015

Afr. J. Biotechnol.

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The mitochondrial DNA (mtDNA) is a small circular genome located within the mitochondria in the cytoplasm of the cell and a smaller 1.2 kilobase pair fragment, called the control region (D-loop). The aims of this research were to study this region by using the Sanger sequencing technique and establish the degree of variation characteristic of a fragment. FTA® Technology (FTA™ paper DNA extraction) was utilized to extract DNA. PCR products were purified by EZ-10 spin column then sequenced and detected by using the ABI 3730xL DNA Analyzer. Novel polymorphisms discovered at positions 16037, 16075, 16104 and 16201 in future may be suitable sources for identification purpose.

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Section: Resultsmentioning

confidence: 99%

Detection of novel polymorphisms in the mitochondrial DNA D-Loop hypervariable region HVI from 400 healthy unrelated individuals from central and North-central Iraq

Ameera¹,

Imad²,

Muhanned³

2015

Afr. J. Biotechnol.

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“…This observation supports the thesis that different SNP-type polymorphisms can be strongly associated with a given population. Table 3 presents a summary of the Iraqi data in comparison with other global populations [16][17][18]. Significant assistance for the research was provided by Mitomap computer database, which contains information concerning human mtDNA [19].…”

Section: Resultsmentioning

confidence: 99%

Discovery of Three Newly Described Single Nucleotide Polymorphisms in Mitochondrial DNA Hypervariable Region I (HVI) and Estimation of Variants and Haplotypes Encompassing Nucleotide Positions 16024- 16365

Y¹

2014

J Forensic Res

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“…For interpopulation comparison purposes, published data on both HVI haplogroups and sequence variations in the hypervariable regions HVI and HVII from many other human groups worldwide were compiled. Thus, mtDNA haplogroup data in Georgians were compared to the following 23 populations: Andalusian, Catalonian, Portuguese, Algerian (Coˆrte-Real et al 1996), British (Piercy et al 1993), North Portuguese (Pereira et al 1999), Tuscan (Francalacci et al 1996), South German (Lutz et al 1998), North-West German (Pfeiffer et al 1999), Austrian, Spanish, Egyptian, Japanese, subSaharan African, African-Americans (USA), European Americans (USA), Hispanic, Navajo (Budowle et al 1999), Basque (unpublished data), Kung (Vigilant et al 1991), French (pooled from Rousselet and Mangin 1998;Budowle et al 1999), Korean (pooled from Pfeiffer et al 1998;Budowle et al 1999), and Taiwanese (pooled from Melton et al 1995;Budowle et al 1999).…”

Section: Discussionmentioning

confidence: 99%

“…In this latter analysis, only 14 populations (including Georgia) could be considered, due to the paucity of HVII data. Populations included were those compiled in Budowle et al (1999) and Basques (unpublished data).…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, many databases of the mtDNA control region have been published to permit mtDNA forensic casework in particular countries or geographic regions (Parson et al 1998;Rousselet and Mangin 1998;Budowle et al 1999Budowle et al , 2002Pfeiffer et al 1999;Imaizumi et al 2002;Vanecek et al 2004;Zupanic Pajnic et al 2004). However, the bulk of mtDNA sequence data published to date have been centered in the HVI segment.…”

Section: Trnamentioning

confidence: 99%

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Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia

Alfonso‐Sánchez

Martínez-Bouzas

Castro³

et al. 2006

J Hum Genet

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In this work, we analyzed the sequence diversity of the mtDNA control region (HVI and HVII) in a sample of 48 individuals from Swanetia (Georgia), using direct fluorescent-based sequencing methods. We identified 43 different mtDNA haplotypes resulting from 78 polymorphic sites (46 in HVI and 32 in HVII). Most of the variable positions identified in both HVI and HVII were transitions (82.6 and 71.9%, respectively). The frequency of length heteroplasmy in the homopolymeric C-stretch regions was the same for both segments (10.4%). The sequence diversity increased markedly when both hypervariable regions were analyzed jointly (HVI: 0.985, HVII: 0.975, HVI+HVII: 0.994). Accordingly, the probability of two randomly selected sequences matching (random match probability, RMP) decreased from 3.4% (HVI) to 2.6% (HVI+HVII), despite which the RMP values in Georgians remained higher than estimated in most Europeans. This suggests that the variability of maternal lineages tends to be lower in traditional human isolates and, therefore, the potential of discrimination of mtDNA in forensic analysis is more limited in this type of population. The incorporation of HVII data also contributed to the refinement of results regarding the genetic relationships among the samples included in the analyses, which stress the importance of considering HVII in both population and forensic genetics.

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Mitochondrial DNA regions HVI and HVII population data

Cited by 129 publications

References 22 publications

Detection of novel polymorphisms in the mitochondrial DNA D-Loop hypervariable region HVI from 400 healthy unrelated individuals from central and North-central Iraq

Detection of novel polymorphisms in the mitochondrial DNA D-Loop hypervariable region HVI from 400 healthy unrelated individuals from central and North-central Iraq

Discovery of Three Newly Described Single Nucleotide Polymorphisms in Mitochondrial DNA Hypervariable Region I (HVI) and Estimation of Variants and Haplotypes Encompassing Nucleotide Positions 16024- 16365

Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia

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