Heteroplasmy in hair: Differences among hair and blood from the same individuals are still a matter of debate

Paneto, Greiciane Gaburro; Martins, Jaqueline; Longo, Larissa V. G.; Pereira, Gabriella Augusto; Freschi, A.; Alvarenga, Vera Lucy de Santi; Chen, Bety; Oliveira, Rogério Nogueira de; Hirata, Mário Hiroyuki; Cicarelli, Regina Maria Barretto

doi:10.1016/j.forsciint.2007.02.011

Cited by 28 publications

(11 citation statements)

References 30 publications

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“…For instance, although real-time PCR presents relatively low cost and is less time-consuming when compared with methods requiring post-PCR manipulations, the protocol developed by Berry and Sarre (2007) showed that intraspecific polymorphism or melt temperature overlap may occur between closely related species. Additionally, DNA-based methods specifically designed for carnivore species discrimination (e.g., Fernandes et al 2007) are based solely on mtDNA polymorphism, presenting some limitations: mtDNA evolves rapidly, which may result in intraspecific diversity too high for species discrimination proposes (e.g., O'Reilly et al 2008); heteroplasmy, which has been documented for several mammalian mitochondrial genomes (Hsieh et al 2001;Paneto et al 2007); nuclear copies (NUMTS), which are known to occur in different species (Zhang and Hewitt 1996;Lopez et al 1996;Kim et al 2006;Antunes et al 2007); and mtDNA introgression which also is common in mammals (e.g., Ballard and Whitlock 2004;Alves et al 2006). Therefore, new methodologies based on nuclear genes could be more informative or provide extra information to complement mtDNA-based protocols.…”

Section: Introductionmentioning

confidence: 99%

Species identification using a small nuclear gene fragment: application to sympatric wild carnivores from South-western Europe

et al. 2009

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Species identification is essential for noninvasive studies of elusive and rare animals, and for detecting illegal harvest or trade of wildlife species. However, most molecular tests identify only a limited number of species or require multiple laboratory steps to distinguish many taxa. Additionally, most protocols use mitochondrial DNA being, therefore, especially prone to problems such as nuclear insert copies, high intraspecific diversity or heteroplasmy. Here, we developed a molecular test based on the polymorphisms detected on a small nuclear gene fragment (221 bp of the IRBP -Interphotoreceptor Retinoid-Binding Protein-exon 1). This fragment revealed 51 variable sites (including 12 non-synonymous and 19 species-specific sites), which enabled the successful distinction of all 16 carnivore species native to Southwestern Europe. A SSCP (Single-Strand Conformational Polymorphism) gel electrophoresis technique was also optimized to allow the simple and inexpensive application of this molecular test. Sequences and SSCP profiles were consistent in identifying a total of 387 samples, including faeces (172) and hairs (17) collected non-invasively in the field. Due to its low cost, simplicity, and wide range of identifiable species, this test shows great promise to facilitate studies in molecular ecology, conservation genetics, and forensic analysis, as well as DNA bar-coding projects.

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Section: Introductionmentioning

confidence: 99%

Species identification using a small nuclear gene fragment: application to sympatric wild carnivores from South-western Europe

et al. 2009

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“…These samples were classified into haplogroups through evolutionary analysis of the hypervariable regions I and II of the mtDNA (Paneto et al, 2007). DNA extraction from blood samples was performed with Chelex resin (Biorad) (Singer-Sam et al, 1989).…”

Section: Samplesmentioning

confidence: 99%

Analysis of SNP (single nucleotide polymorphism) multiplex markers related to sudden cardiac death in Brazilian families

Braganholi

Cicarelli

2015

Genet. Mol. Res.

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ABSTRACT. Sudden cardiac death (SCD) is a major public health concern worldwide, and genetic analysis may be useful in identifying the cause of death as well as in determining the possible genetic risk factors for SCD. This study analyzed eight SNPs (single nucleotide polymorphisms) highly correlated with cardiac sudden death in samples (blood and bone) from six Brazilian families with a history of cardiovascular diseases. Individuals with no family history of cardiovascular diseases were recruited as controls. Y chromosomes and mtDNA haplogroups belonging to these subjects were verified as well. We found that SNP rs16857031 showed significant differences between the group with a family history of cardiovascular diseases and the control group. Furthermore, the data obtained were compatible with known frequencies of SNPs for the haplogroups in which the samples were classified. A possible hereditary factor was identified for SNP rs4725982 in one family. These preliminary results suggest that identification of certain SNPs could be used to assess risk factors for SCD.

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“…However, it also means that maternally related individuals cannot be distinguished from one another using this technique, reducing its usefulness in criminal investigation when individualisation is required. An additional observation that has received attention in the forensic DNA community is the apparent high level of heteroplasmy that has been observed in mtDNA recovered from hairs [21][22][23][24][25][26][27]. Heteroplasmy in mtDNA sequences derived from hairs is observed as the production of two or more differing DNA sequences arising from a single individual.…”

Section: Dna Analysismentioning

confidence: 99%

DNA reviews: hair

Graham

2007

Forens Sci Med Pathol

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Human and nonhuman hairs are often recovered during forensic investigation. As with all other biological samples that may be collected, via DNA analysis, hairs have the potential to provide the investigating authority with valuable intelligence pertaining to the identity of offenders, victims and even pets. DNA analysis of hairs is not however a straightforward process. The biochemical make up of hairs provide the DNA analyst with a unique set of challenges that must be overcome before any useful information can be gleaned from the evidence. This short review provides an overview of the location and condition of DNA within hair samples, and discusses the analytical methods that are employed to maximise the information that can be obtained from this sample type.

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Heteroplasmy in hair: Differences among hair and blood from the same individuals are still a matter of debate

Cited by 28 publications

References 30 publications

Species identification using a small nuclear gene fragment: application to sympatric wild carnivores from South-western Europe

Species identification using a small nuclear gene fragment: application to sympatric wild carnivores from South-western Europe

Analysis of SNP (single nucleotide polymorphism) multiplex markers related to sudden cardiac death in Brazilian families

DNA reviews: hair

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