title: Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan.
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.
authors.affiliation: a Human genetics and Molecular Biology , University of Health Sciences , Lahore , Pakistan.|b IMBB , The University of Lahore , Lahore , Pakistan.
authors.forename: Shahzad
authors.initials: S
authors.lastname: Bhatti
authors.affiliation: c Human Genetics and Molecular Biology , University of Health Sciences Lahore , Lahore , Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Aslam Khan
authors.affiliation: d Institute of Molecular Biology and Biotechnology , University of Lahore , Lahore , Pakistan.
authors.forename: Sana
authors.initials: S
authors.lastname: Abbas
authors.affiliation: e Biosciences, Biotechnologies and Biopharmaceutics , University of Bari , Bari , Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Attimonelli
authors.affiliation: f Jara CIBO, IMSS , Universidad De Guadala , Guadalajara , Jalisco , Mexico.
authors.forename: Gerardo Rodriguez
authors.initials: GR
authors.lastname: Gonzalez
authors.affiliation: g Medical Biochemistry , Ege University School of Medicine , Izmir , Turkey.
authors.forename: Hikmet Hakan
authors.initials: HH
authors.lastname: Aydin
authors.affiliation: h Nacional de Pesquisa, Manaus Programa de Pós Graduação em Genética, Conservação e Biologia Evolutiva , Instituto Nacional de Pesquisas da Amazônia Av. André Araújo , Manaus , Aleixo , Brazil.
authors.forename: Erica Martinha Silva
authors.initials: EMS
authors.lastname: de Souza
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D053803:Forensic Genetics; D054629:Genome, Mitochondrial; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000235:genetics; D010154:Pakistan; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial
keywords: Baluchistan; Mitochondrial DNA heteroplasmy; Pakistan; Sanger sequencing; Sindh; control region