Please use this identifier to cite or link to this item: https://repositorio.inpa.gov.br/handle/1/16924
Title: Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan
Authors: Bhatti, Shahzad
Aslam Khan, Muhammad
Abbas, Sana
Attimonelli, Marcella
Gonzalez, Gerardo Rodriguez
Aydin, Hikmet Hakan
Souza, Érica Martinha Silva de
Keywords: Dna, Mitochondrial
Dna, Mitochondrial
Capillary Electrophoresis
Controlled Study
Dna Extraction
Dna Replication
Dna Sequence
Ethnicity
Female
Forensic Medicine
Gene Deletion
Gene Frequency
Haplotype
Heteroplasmy
Human
Male
Normal Human
Nucleotide Sequence
Point Mutation
Polymerase Chain Reaction
Priority Journal
Radioactivity
Regulator Gene
Sequence Analysis
Spectrophotometry
Disorders Of Mitochondrial Functions
Ethnic Group
Forensic Genetics
Genetics
Genome, Mitochondrial
Mitochondrion
Pakistan
Randomized Controlled Trial
Dna, Mitochondrial
Ethnic Groups
Female
Forensic Genetics
Genome, Mitochondrial
Humans
Male
Mitochondria
Mitochondrial Diseases
Pakistan
Sequence Analysis, Dna
Issue Date: 2018
metadata.dc.publisher.journal: Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis
metadata.dc.relation.ispartof: Volume 29, Número 4, Pags. 501-510
Abstract: The insight heterodox genetics of mtDNA infer new perspectives at the level of human mitochondrial control region heteroplasmy, which is substantial in evolutionary as well as forensic interpretation. The main goal of this study is to interrogate the recurrence and resolve the ambiguity of blurry spectrum of heteroplasmy in the human mtDNA control region of 50 Baluchi and 116 Sindhi unrelated individuals. Sanger sequencing was employed classically, that was further investigated by minisequencing. Only 20% Baluchi and 25.8% Sindhi were homoplasmic, whereas rest of 80% Baluchi and 74.1% Sindhi exhibited at least one heteroplasmy within the specimen. In total, 166 individuals have length heteroplasmy (LH) found at positions 16189, 303–315, 568–573, and 514–524, whilst point mutation heteroplasmy (PMH) was detected at positions 73, 16093, 16189, and 16234, respectively. Overall LH was observed albeit high frequency in Sindhi ethnic group (82%) rather than Baluchi’s (37%), whereas PMH accumulation was relatively extensive (24%) in Baluchi’s than Sindhi’s (11.2%). The obtained results ascertained that growing knowledge of heteroplasmy assisted to develop consciences in the forensic community that heteroplasmy plays a pivotal role in the legal interpretation on a regular basis and knowledge of its biological underpinnings has a vital niche in the forensic science. Limited studies have focused on heteroplasmy, yet scientific attention should be given, in order to determine its magnitude in different ethnic boundaries. © 2017 Informa UK Limited, trading as Taylor & Francis Group.
metadata.dc.identifier.doi: 10.1080/24701394.2017.1310853
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