Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan
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 sp...
| Autor principal: | Bhatti, Shahzad |
|---|---|
| Outros Autores: | Aslam Khan, Muhammad, Abbas, Sana, Attimonelli, Marcella, Gonzalez, Gerardo Rodriguez, Aydin, Hikmet Hakan, Souza, Érica Martinha Silva de |
| Grau: | Artigo |
| Idioma: | English |
| Publicado em: |
Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis
2020
|
| Assuntos: | |
| Acesso em linha: |
https://repositorio.inpa.gov.br/handle/1/16924 |
| id |
oai:repositorio:1-16924 |
|---|---|
| recordtype |
dspace |
| spelling |
oai:repositorio:1-16924 Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan Bhatti, Shahzad Aslam Khan, Muhammad Abbas, Sana Attimonelli, Marcella Gonzalez, Gerardo Rodriguez Aydin, Hikmet Hakan Souza, Érica Martinha Silva de 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 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. 2020-06-15T21:37:22Z 2020-06-15T21:37:22Z 2018 Artigo https://repositorio.inpa.gov.br/handle/1/16924 10.1080/24701394.2017.1310853 en Volume 29, Número 4, Pags. 501-510 Restrito Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis |
| institution |
Instituto Nacional de Pesquisas da Amazônia - Repositório Institucional |
| collection |
INPA-RI |
| language |
English |
| topic |
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 |
| spellingShingle |
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 Bhatti, Shahzad Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan |
| topic_facet |
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 |
| description |
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. |
| format |
Artigo |
| author |
Bhatti, Shahzad |
| author2 |
Aslam Khan, Muhammad Abbas, Sana Attimonelli, Marcella Gonzalez, Gerardo Rodriguez Aydin, Hikmet Hakan Souza, Érica Martinha Silva de |
| author2Str |
Aslam Khan, Muhammad Abbas, Sana Attimonelli, Marcella Gonzalez, Gerardo Rodriguez Aydin, Hikmet Hakan Souza, Érica Martinha Silva de |
| title |
Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan |
| title_short |
Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan |
| title_full |
Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan |
| title_fullStr |
Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan |
| title_full_unstemmed |
Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan |
| title_sort |
problems in mitochondrial dna forensics: while interpreting length heteroplasmy conundrum of various sindhi and baluchi ethnic groups of pakistan |
| publisher |
Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis |
| publishDate |
2020 |
| url |
https://repositorio.inpa.gov.br/handle/1/16924 |
| _version_ |
1787144127862800384 |
| score |
11.755432 |