Mitochondrial control region diversity in Sindhi ethnic group of Pakistan

Yasmin, Mahmuda; Rakha, Allah; Noreen, Saadia; Salahuddin, Zeenat

doi:10.1016/j.legalmed.2017.02.001

Cited by 12 publications

(8 citation statements)

References 17 publications

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“…Pakistan lies in a region that has been invaded by several different groups in the past, including Greeks, Aryans, Macedonians, Arabs and Mongols 20 . These invaders contributed to the ethnic variety of the Pakistani populations.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, le 47,202,314 and le 59,202,1067 are rarely observed in other populations but were frequently found in currently studied populations. A study addressing mitochondrial control region diversity in the Sindhi population showed that the haplogroups constituting the mtDNA library were mainly derived from South Asia (47.6%) and West Eurasia (35.7%) 20 . Likewise, the Punjabi mtDNA gene pool is primarily a composite of considerable proportions of South Asian haplotypes (65%) and West Eurasian (29%) haplogroups 25 .…”

Section: Sindhmentioning

confidence: 99%

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Systematic sequence analysis of the FUT3 gene identifies 11 novel alleles in the Sindhi and Punjabi populations from Pakistan

Zhao

Adnan

Rakha

et al. 2020

Sci Rep

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pang 1* the FUT3 (Lewis) gene is responsible for the expression of Lewis fucosyltransferase, which is required for the synthesis of the structural determinants of both Lewis a and Lewis b specificity. These factors play an important role not only in clinical but also in medico-legal investigations. The gene sequence is highly polymorphic and ethnically specific. In the current study, we performed systematic sequence analysis of the coding region of FUT3 by DNA sequencing to investigate the genetic variations of FUT3 and the molecular basis of the Lewis phenotype in the Sindhi and Punjabi populations of Pakistan. Twenty-three point mutations were observed, including 7 unreported mutations, among which two missense mutations (490 G > A and 959 T > C) were predicted to be deleterious to enzyme activity by software assessment. In total, we observed 24 Lewis alleles, including 11 novel ones. However, all unreported missense mutations were present in Lewis-negative alleles confirmed previously. According to genotypic data, the Lewis-negative phenotypic frequencies were 11.5% and 22.93% in the Sindhi and Punjabi ethnic groups, respectively. Moreover, we found that le 202,314 and le 59,1067 were predominant among Lewis-negative alleles, while the frequency of le 59,1067 in the Punjabi population was significantly higher than that in the Sindhi population. In summary, our study revealed that there is a relatively high degree of sequence variation of the Lewis gene in Pakistani populations and provided the first genetic data on FUT3 in these two ethnic groups from Pakistan. The allele types and their frequencies showed that these ethnic groups exhibit more Caucasian components.

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Section: Discussionmentioning

confidence: 99%

Section: Sindhmentioning

confidence: 99%

Systematic sequence analysis of the FUT3 gene identifies 11 novel alleles in the Sindhi and Punjabi populations from Pakistan

Zhao

Adnan

Rakha

et al. 2020

Sci Rep

Self Cite

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“…All the ethnic groups have different genetic lineages resulting in genetic heterogeneity. Punjabi ethnics have a complex admixture of South Asian, East Asian and West Eurasian lineages, whereas, Pathan, Balochi and Sindhi share alleles with Greeks and Georgians [53][54][55]. While the Urdu speaking ethnic community has heterogeneous Indian ancestry [56].…”

Section: Discussionmentioning

confidence: 99%

MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

et al. 2019

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Background: To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women. Methods: After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two groups (125 preeclamptic cases and 125 normotensive pregnant women). Demographic details and medical history were recorded, and 10 ml blood sample was obtained for DNA extraction. The tetra-primer amplification refractory mutation system (ARMS) assays were developed for assessing the variants of three preeclampsia related genes; F5, MTHFR and VEGFA. An association of six SNVs; F5:c.1601G > A (rs6025), F5:c.6665A > G (rs6027), MTHFR: c.665C > T (rs1801133), MTHFR: c.1286A > C (rs1801131), VEGFA: c.-2055A > C (rs699947) and VEGFA: c.*237C > T (rs3025039) with preeclampsia was determined by using different genetic models. Results: Genotyping of the SNVs revealed that patients with MTHFR:c.665C > T, have increased susceptibility to preeclampsia

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“…In the meantime, and according to current international guidelines (W. Parson et al, 2014;Prinz et al, 2007), Sanger sequencing still continues to be an adequate method for mtDNA analysis for forensic human identification, and is used in most casework laboratories worldwide (Ballard, 2016). Some forensic laboratories perform Sanger sequencing for HVI and HVII fragments, while others have already extended the study to the HVIII fragment and, in recent years, most of the forensic laboratories are introducing the amplification of the entire control region as routine methodology (Chaitanya et al, 2016;Poletto, Malaghini, Silva, Bicalho, & Braun-Prado, 2019;Turchi et al, 2016;Yasmin, Rakha, Noreen, & Salahuddin, 2017). Attempting to improve the power of mtDNA in human identification, over the past decade some studies have been focused in the extension of the analyses to the whole mtDNA genome (Duan et al, 2018;Strobl, Eduardoff, Bus, Allen, & Parson, 2018;Woerner et al, 2018).…”

Section: Mitochondrial Dna Sequencing Methodologiesmentioning

confidence: 99%

Peer Review #1 of "Mitochondrial DNA in human identification: a review (v0.1)"

2019

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Mitochondrial DNA (mtDNA) presents several characteristics useful for forensic studies, especially related to the lack of recombination, to a high copy number, and to matrilineal inheritance. mtDNA typing based on sequences of the control region or full genomic sequences analysis is used to analyze a variety of forensic samples such as old bones, teeth and hair, as well as other biological samples where the DNA content is low. Evaluation and reporting of the results requires careful consideration of biological issues as well as other issues such as nomenclature and reference population databases. In this work we review mitochondrial DNA profiling methods used for human identification and present their use in the main cases of humanidentification focusing on the most relevant issues for forensics.

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Mitochondrial control region diversity in Sindhi ethnic group of Pakistan

Cited by 12 publications

References 17 publications

Systematic sequence analysis of the FUT3 gene identifies 11 novel alleles in the Sindhi and Punjabi populations from Pakistan

Systematic sequence analysis of the FUT3 gene identifies 11 novel alleles in the Sindhi and Punjabi populations from Pakistan

MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

Peer Review #1 of "Mitochondrial DNA in human identification: a review (v0.1)"

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