PDGF is a growth factor and is extensively involved in multi-dimensional cellular dynamics. It sw... more PDGF is a growth factor and is extensively involved in multi-dimensional cellular dynamics. It switches on a plethora of molecules other than its classical pathway. It is engaged in various transitions of development however if the unleashed potentials lead astray it brings forth tumorigenesis. Conventionally, it has been assumed that the components of this signaling pathway show fidelity and act with a high degree of autonomy. However, as illustrated by the PDGF signal transduction, reinterpretation of recent data suggests that machinery is often shared between multiple pathways and other components crosstalk to each other through multiple mechanisms. There is a very indiscriminate line that demarcates between normal division and neoplasia. A number of unidentified proteins might be instrumental to this transition. The signal perpetuation is a remarkable portfolio of tumor progression.
Gypsies are a separate ethnic group living in Pakistan and some other countries as well. They are... more Gypsies are a separate ethnic group living in Pakistan and some other countries as well. They are mostly known as ‘Roma’ and ‘untouchables’. They have different types of lifestyles as compared to other common people, as they always keep migrating from one place to another. They do not have proper houses; they live in tent houses and most probably work on daily wages to earn their living. Gypsies cannot be specified according to the place of residence and can only be classified according to their migration route. Previous historical and linguistic research showed the north Indian origin of Roma people. The present study collected 285 unrelated Roma individuals living in Punjab and typed with the Goldeneye Y20 system. Allelic frequencies ranged between 0.0035 and 0.5266, with haplotype diversity (HD) of 0.9999 and discrimination capacity (DC) of 0.8790. Gene diversity (GD) ranged from 0.6489 (DYS391) to 0.9764 (DYS391) (DY385ab). A total of 223 unique alleles were observed. Interestin...
Human teeth have become a prominent source of DNA for human forensic identification as their biol... more Human teeth have become a prominent source of DNA for human forensic identification as their biological structure is highly resistant to extreme conditions. Previous forensic identification was mainly dependent on the pulp and the other hard tissues of intact teeth. However, there is high likelihood that only carious teeth can be available for forensic analysis. This study aimed to validate the use of the carious part of the teeth for forensic identification and to compare two DNA extraction methods-the operative technique with the cervical cut technique for human identification using STR typing. The reliability of STR markers in carious part of the teeth was evaluated in 120 carious teeth (60 dental pulp and 60 dentinal carious tissues, respectively) with considerable coverage of gender type and age range to avoid false exclusions. The study was performed on genuine data set where samples have been extracted by proficient dentist during the treatment operation and collected for fur...
The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors almost 50 ethnic groups including ... more The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors almost 50 ethnic groups including the Uyghur (UGR: 45.84%), Han (HAN: 40.48%), Kazakh (KZK: 6.50%), Hui (HUI: 4.51%), Kyrgyz (KGZ: 0.86%), Mongol (MGL: 0.81%), Manchu (MCH: 0.11%), and Uzbek (UZK: 0.066%), which make it one of the most colorful regions with abundant cultural and genetic diversities. In our previous study, we established allelic frequency databases for 14 autosomal short tandem repeats (STRs) for four minority populations from XUARC (MCH, KGZ, MGL, and UZK) using the AmpFlSTR® Identifiler PCR Amplification Kit. In this study, we genotyped 2,121 samples using the GoldenEye™ 20A Kit (Beijing PeopleSpot Inc., Beijing, China) amplifying 19 autosomal STR loci for four major ethnic groups (UGR, HAN, KZK, and HUI). These groups make up 97.33% of the total XUARC population. The total number of alleles for all the 19 STRs in these populations ranged from 232 (HAN) to 224 (KZK). We did not observe any departures fr...
ABSTRACTHazara population across Durand-line has experienced extensive interaction with Central A... more ABSTRACTHazara population across Durand-line has experienced extensive interaction with Central Asian and East Asian populations. Hazara individuals have typical Mongolian facial appearances and they called themselves descendants of Genghis Khan’s army. The people who speak the Balochi language are called Baloch. Previously, a worldwide analysis of Y-chromosomal haplotype diversity for rapidly mutating (RM) Y-STRs and with PowerPlex Y23 System (Promega Corporation Madison, USA) kit was created with collaborative efforts, but Baloch and Hazara population from Pakistan and Hazara population from Afghanistan were missing. A limited data with limited number of markers and samples is available which poorly define these populations. So, in the current study, Yfiler Plus PCR Amplification Kit loci were examined in 260 unrelated Hazara individuals from Afghanistan, 153 Hazara individuals, and 111 Balochi individuals from Baluchistan Pakistan. For the Hazara population from Afghanistan and P...
Background With a population of over 1.4 billion and 56 ethnic groups, China is the largest count... more Background With a population of over 1.4 billion and 56 ethnic groups, China is the largest country in the world in terms of population. Han is the main ethnic group of China (93%). Aim To provide genetic data of Y chromosomal STRs from Anshan City, Northeast of China, for the first time, which will serve as a reference database for forensic and population studies. Subjects and methods We report data of 20 Y-chromosomal short tandem repeats (YSTRs) genotyped with the Goldeneye® 20Y kit in 270 Han individuals residing in Anshan City of China. Results A total of 170 alleles were observed on 20 Y-STRs. The gene diversities varied from 0.3460 (DYS391) to 0.9692 (DYS385). Overall haplotype diversity was almost 1 with 261 unique haplotypes, while the discrimination capacity (DC) was 0.9814. Pairwise Rst and Fst genetic analyses, MDS plot, N-J tree and PCA showed the genetic structure of Anshan Han population was significantly different from other minority groups like Tibetans and Kazakhs....
This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apol... more This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
Y-chromosome short tandem repeat polymorphisms (Y-STRs) are important in many areas of human gene... more Y-chromosome short tandem repeat polymorphisms (Y-STRs) are important in many areas of human genetics. Y chromosomal STRs being normally utilized in the field of forensic exhibit low haplotype diversity in endogamous populations and fail to discriminate among male relatives from same pedigree. Rapidly mutating Y-STRs (RM Y-STRs) have been paid much attention in last decade. These 13 RM Y STRs have high mutation rates (>10-2) and have considerably higher haplotype diversity and discrimination capacity than conventionally used Y-STRs showing remarkable power, when it comes to differentiation in paternal lineages in endogamous populations. Previously, we have analyzed 2–4 generation, 99 pedigrees covering 1568 pairs of men covering 1–6 meioses from all over Pakistan and 216 male relatives from 18 deep rooted endogamous Sindhi pedigrees covering 1-7 meioses. Here we are presenting 861 pairs of men from 63 endogamous pedigrees covering 1-6 meioses from Punjabi population of Punjab, Pa...
The rise and expansion of Tibetan Empire in the 7th to 9th centuries AD affected the course of hi... more The rise and expansion of Tibetan Empire in the 7th to 9th centuries AD affected the course of history across East Eurasia, but the genetic impact of Tibetans on surrounding populations remains undefined. We sequenced 60 genomes for four populations from Pakistan and Tajikistan to explore their demographic history. We showed that the genomes of Balti people from Baltistan comprised 22.6–26% Tibetan ancestry. We inferred a single admixture event and dated it to about 39–21 generations ago, a period that postdated the conquest of Baltistan by the ancient Tibetan Empire. The analyses of mitochondrial DNA, Y, and X chromosome data indicated that both ancient Tibetan males and females were involved in the male-biased dispersal. Given the fact that the Balti people adopted Tibetan language and culture in history, our study suggested the impact of Tibetan Empire on Baltistan involved dominant cultural and minor demic diffusion.
The FUT3 (Lewis) gene is responsible for the expression of Lewis fucosyltransferase, which is req... more The FUT3 (Lewis) gene is responsible for the expression of Lewis fucosyltransferase, which is required for the synthesis of the structural determinants of both Lewisa and Lewisb 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 previousl...
Abstract Background In China, most Koreans live in the Northeast, including Jilin (59.64%), Heilo... more Abstract Background In China, most Koreans live in the Northeast, including Jilin (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, while the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. Aim The Combined DNA Index System or CODIS has been increased from thirteen to twenty loci, so it is important to generate improved profiles with the help of these additional loci. Subjects and methods In the current study we have analysed 564 unrelated individuals from the Yanbian Korean population using the GoldenEyeTM 20 A kit (Beijing PeopleSpot Inc). Allelic frequencies, population comparisons and forensic statistical parameters of commonly used short tandem repeats were calculated for the Yanbian Korean population from Jilin province, P.R. China. Results A total of 232 alleles were observed and all the loci were found to be in Hardy-Weinberg equilibrium after Bonferroni correction. The combined power of discrimination was 99. 999999999999999999999913% and the combined power of exclusion was 0.999999995349261. Conclusion Phylogenetic parameters showed that the Yanbian Koreans living in Jilin had the closest genetic relationship with South Koreans and other East Asian populations. The present study provides a precise reference database of Jilin Koreans for forensic applications and studies of population genetics.
Different fixation modalities are available for fixation of posterior malleolar fractures (PMFs),... more Different fixation modalities are available for fixation of posterior malleolar fractures (PMFs), but the best method is still unclear. The purpose of this study was to carry out a comparative biomechanical analysis of three commonly used fixation constructs for PMFs using experimental and finite element analysis (FEA). 15 human cadaveric ankle specimens were randomly divided into three groups. Specimens in group-A were fixed with two anteroposterior (AP) lag screws, group-B with two posteroanterior (PA) lag screws, and for group-C, a posterior plate was used. Each model was subjected to axial load. Outcomes included loads for 0.5 mm, 1 mm, 1.5 mm, and 2 mm vertical displacements of posterior fragments were noted. 3D FE models were reconstructed from computed tomography (CT) images and subjected to vertical loads. The model’s stress, fracture step-off, and resultant strains in implants were also studied in 3D FE models. Significantly higher amounts of mean compressive loads were obs...
Microsatellites or short tandem repeats (STRs) are considered the gold standard for forensic inve... more Microsatellites or short tandem repeats (STRs) are considered the gold standard for forensic investigations and autosomal STRs are used for routine forensic personal identification.
ABSTRACTCOVID-19 is a newly communicable disease with a catastrophe outbreak that affects all ove... more ABSTRACTCOVID-19 is a newly communicable disease with a catastrophe outbreak that affects all over the world. We retrieved about 8,781 nucleotide fragments and complete genomes of SARS-CoV-2 reported from sixty-four countries. The CoV-2 reference genome was obtained from the National Genomics Data Center (NGDC), GISAID, and NCBI Genbank. All the sequences were aligned against reference genomes using Clustal Omega and variants were called using in-house built Python script. We intend to establish a user-friendly online resource to visualize the variants in the viral genome along with the Primer Infopedia. After analyzing and filtering the data globally, it was made available to the public. The detail of data available to the public includes mutations from 5688 SARS-CoV-2 sequences curated from 91 regions. This database incorporated 39920 mutations over 3990 unique positions. According to the translational impact, these mutations include 11829 synonymous mutations including 681 synony...
Background: Dalian is a city formed in the 1880s in Liaoning province, Northeastern China with a ... more Background: Dalian is a city formed in the 1880s in Liaoning province, Northeastern China with a population of 6.69 million now. Han is the largest ethnic group not only across Mainland China (92%) and Taiwan (97%) but also considered to be the largest ethnic group of the world contributing to above 18% of world's population. Methods: In the current study, we genotyped Goldeneye ® 20Y System loci in 879 unrelated male individuals from the Han ethnic group in Dalian city and calculated the forensic parameters of the 20 Y-STR loci. Results: In total, we observed 855 haplotypes, among which 835 (94.99%) were unique. The discrimination capacity (DC) of overall Goldeneye ® 20Y System is 97.27% and it slightly reduces to 96.93% when only Y-filer® set of 17 Y-STRs were used, which mitigates using the extended set of markers in this population. We found DYS388 showed the lowest gene diversity (0.5151), whereas DYS389II showed the highest gene diversity (0.7621) in single copy Y-STR, and DYS385 showed the highest gene diversity (0.9683) among all. Conclusion: Multidimensional scaling (MDS) analysis based upon pairwise Rst genetic distance showed difference among Han population from the east to the west and from the north to the south. We also predicted haplogroups using Y-STR haplotypes, which showed the dominance of Haplogroup O (65.2%) followed by Haplogroup C (14.5%) in Dalian Han population. Moreover, we found 10 individuals showed a null allele at the DYS448 in our samples. We also performed linear discriminatory analysis (LDA) between Han and other prominent Chinese minority ethnic groups. We presented Y-STRs data in the Y-Chromosome Haplotype Reference Database (YHRD) for the future forensic and other usage.
Genetic structure of a population can be influenced by evolutionary processes and cultural histor... more Genetic structure of a population can be influenced by evolutionary processes and cultural histories which can alter the frequencies of different variants at particular genetic markers. These characteristics make DNA evidence suitable for forensic applications. Little relevant data are available from the interior Sindhi population; thus, in the current study, we have investigated 15 autosomal STRs in 181 unrelated individuals belonging to the interior parts of Sindh Pakistan, to establish its lineage and parameters of forensic interest. These STRs revealed a high power of discrimination (CPD), power of exclusion (CPE) and matching probability (CMP) are 0.9999999999999999968997, 0.99998612 and 3.1003 × 10–18 respectively. The genetic distances, neighbour‐joining (NJ) tree, interactivity test and principal component analysis (PCA) based on 15 autosomal STR loci showed that the interior Sindhi population had a closer genetic relationship with Pakistani populations and distant relationships with regional (India and Afghanistan) populations. The present findings exhibited that STRs included in AmpFLSTR Identifiler kit (Applied Biosystems) are genetically polymorphic in the interior Sindhi population of Pakistan. This study provides valuable population genetic data for the genetic information study, forensic human individual identification and paternity testing.
For more information about UCLan's research in this area go to and search for <name of research G... more For more information about UCLan's research in this area go to and search for <name of research Group>.
Abstract Background: Short tandem repeats (STRs) are genetic markers that are more informative th... more Abstract Background: Short tandem repeats (STRs) are genetic markers that are more informative than single nucleotide polymorphisms and they are widely used in forensic DNA analysis. Aim: To carry out the genetic analysis of 20 autosomal STR loci in Han individuals of Putian City, Southeast China, to expand the available population information for human genetic databases and forensic analysis. Subjects and methods: Saliva swabs from 1417 unrelated Chinese Han individuals from Putian City of Southeast China were collected and then genotyped using the SureID® 21G Human STR Identification Kit. Moreover, phylogenetic analysis based on the Nei’s standard genetic distance was performed between the Han population and other relevant populations based on the shared autosomal STR genotyping. Results: We found 272 alleles among 1417 unrelated individuals and the corresponding allelic frequencies ranged from 0.5409 to 0.0004. The combined power of exclusion (CPE) was 0.999999995514, and the combined power of discrimination (CPD) was 0.9999999999999999999999994061. Population comparison revealed that the Putian Han population makes a cluster with other Han populations from China while showing significant differences when compared with other worldwide populations. Conclusions: Our results found that the SureID® 21G Human STR Identification Kit panel was appropriate for forensic identity testing and paternity testing. Putian Han population had a closer genetic relationship with Han populations from other regions in China, while other minorities like Uighurs and Kazakhs from China showed significant differences.
Abstract Background: Short tandem repeats (STRs) have gained considerable attention in family sea... more Abstract Background: Short tandem repeats (STRs) have gained considerable attention in family search (Y-chromosomal STRs), complex paternity identification (X-chromosomal STRs), routine forensic personal identification (autosomal STRs) and population genetics. Aim: To explore the forensic characteristics of 23 autosomal STRs included in the Huaxia Platinum system in the South Pakistan Hazara population and investigate the genetic similarities and differences between Hazara and 54 worldwide reference populations. Subjects and methods: Variation of the 23 autosomal STRs included in the Huaxia Platinum system was first investigated and reported in a sample of 261 Quetta Hazara in Balochistan Province, Southwest Pakistan. Results: The combined power of discrimination is 0.999999999999999999999999999 and combined power of exclusion is 0.99999999989596 in Quetta Hazara. Comprehensive population comparisons between Hazara and another 13 Eurasian populations based on genotype data, as well as between Hazara and 54 worldwide populations based on the allele frequency distribution, were conducted. Multidimensional scaling plots, principal component analysis, and neighbour-joining phylogenetic trees consistently demonstrated that Pakistan Hazara harbours close affinities with neighbouring Turkic-speaking populations. Model-based genetic structure analysis further suggests that Quetta Hazara derives about half its ancestry directly from the East Asians. Conclusion: Twenty-five forensic-related markers included in the Huaxia Platinum system can be used for forensic practice in the Central Asia Hazara population. Quetta Hazara has a close genetic relationship with the Turkic-speaking populations of Uyghur and Kazakh. Further whole-genome sequencing of Hazara needs to be conducted to validate the observed genetic structure and reconstruct the fine-scale population history of Hazara.
PDGF is a growth factor and is extensively involved in multi-dimensional cellular dynamics. It sw... more PDGF is a growth factor and is extensively involved in multi-dimensional cellular dynamics. It switches on a plethora of molecules other than its classical pathway. It is engaged in various transitions of development however if the unleashed potentials lead astray it brings forth tumorigenesis. Conventionally, it has been assumed that the components of this signaling pathway show fidelity and act with a high degree of autonomy. However, as illustrated by the PDGF signal transduction, reinterpretation of recent data suggests that machinery is often shared between multiple pathways and other components crosstalk to each other through multiple mechanisms. There is a very indiscriminate line that demarcates between normal division and neoplasia. A number of unidentified proteins might be instrumental to this transition. The signal perpetuation is a remarkable portfolio of tumor progression.
Gypsies are a separate ethnic group living in Pakistan and some other countries as well. They are... more Gypsies are a separate ethnic group living in Pakistan and some other countries as well. They are mostly known as ‘Roma’ and ‘untouchables’. They have different types of lifestyles as compared to other common people, as they always keep migrating from one place to another. They do not have proper houses; they live in tent houses and most probably work on daily wages to earn their living. Gypsies cannot be specified according to the place of residence and can only be classified according to their migration route. Previous historical and linguistic research showed the north Indian origin of Roma people. The present study collected 285 unrelated Roma individuals living in Punjab and typed with the Goldeneye Y20 system. Allelic frequencies ranged between 0.0035 and 0.5266, with haplotype diversity (HD) of 0.9999 and discrimination capacity (DC) of 0.8790. Gene diversity (GD) ranged from 0.6489 (DYS391) to 0.9764 (DYS391) (DY385ab). A total of 223 unique alleles were observed. Interestin...
Human teeth have become a prominent source of DNA for human forensic identification as their biol... more Human teeth have become a prominent source of DNA for human forensic identification as their biological structure is highly resistant to extreme conditions. Previous forensic identification was mainly dependent on the pulp and the other hard tissues of intact teeth. However, there is high likelihood that only carious teeth can be available for forensic analysis. This study aimed to validate the use of the carious part of the teeth for forensic identification and to compare two DNA extraction methods-the operative technique with the cervical cut technique for human identification using STR typing. The reliability of STR markers in carious part of the teeth was evaluated in 120 carious teeth (60 dental pulp and 60 dentinal carious tissues, respectively) with considerable coverage of gender type and age range to avoid false exclusions. The study was performed on genuine data set where samples have been extracted by proficient dentist during the treatment operation and collected for fur...
The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors almost 50 ethnic groups including ... more The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors almost 50 ethnic groups including the Uyghur (UGR: 45.84%), Han (HAN: 40.48%), Kazakh (KZK: 6.50%), Hui (HUI: 4.51%), Kyrgyz (KGZ: 0.86%), Mongol (MGL: 0.81%), Manchu (MCH: 0.11%), and Uzbek (UZK: 0.066%), which make it one of the most colorful regions with abundant cultural and genetic diversities. In our previous study, we established allelic frequency databases for 14 autosomal short tandem repeats (STRs) for four minority populations from XUARC (MCH, KGZ, MGL, and UZK) using the AmpFlSTR® Identifiler PCR Amplification Kit. In this study, we genotyped 2,121 samples using the GoldenEye™ 20A Kit (Beijing PeopleSpot Inc., Beijing, China) amplifying 19 autosomal STR loci for four major ethnic groups (UGR, HAN, KZK, and HUI). These groups make up 97.33% of the total XUARC population. The total number of alleles for all the 19 STRs in these populations ranged from 232 (HAN) to 224 (KZK). We did not observe any departures fr...
ABSTRACTHazara population across Durand-line has experienced extensive interaction with Central A... more ABSTRACTHazara population across Durand-line has experienced extensive interaction with Central Asian and East Asian populations. Hazara individuals have typical Mongolian facial appearances and they called themselves descendants of Genghis Khan’s army. The people who speak the Balochi language are called Baloch. Previously, a worldwide analysis of Y-chromosomal haplotype diversity for rapidly mutating (RM) Y-STRs and with PowerPlex Y23 System (Promega Corporation Madison, USA) kit was created with collaborative efforts, but Baloch and Hazara population from Pakistan and Hazara population from Afghanistan were missing. A limited data with limited number of markers and samples is available which poorly define these populations. So, in the current study, Yfiler Plus PCR Amplification Kit loci were examined in 260 unrelated Hazara individuals from Afghanistan, 153 Hazara individuals, and 111 Balochi individuals from Baluchistan Pakistan. For the Hazara population from Afghanistan and P...
Background With a population of over 1.4 billion and 56 ethnic groups, China is the largest count... more Background With a population of over 1.4 billion and 56 ethnic groups, China is the largest country in the world in terms of population. Han is the main ethnic group of China (93%). Aim To provide genetic data of Y chromosomal STRs from Anshan City, Northeast of China, for the first time, which will serve as a reference database for forensic and population studies. Subjects and methods We report data of 20 Y-chromosomal short tandem repeats (YSTRs) genotyped with the Goldeneye® 20Y kit in 270 Han individuals residing in Anshan City of China. Results A total of 170 alleles were observed on 20 Y-STRs. The gene diversities varied from 0.3460 (DYS391) to 0.9692 (DYS385). Overall haplotype diversity was almost 1 with 261 unique haplotypes, while the discrimination capacity (DC) was 0.9814. Pairwise Rst and Fst genetic analyses, MDS plot, N-J tree and PCA showed the genetic structure of Anshan Han population was significantly different from other minority groups like Tibetans and Kazakhs....
This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apol... more This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
Y-chromosome short tandem repeat polymorphisms (Y-STRs) are important in many areas of human gene... more Y-chromosome short tandem repeat polymorphisms (Y-STRs) are important in many areas of human genetics. Y chromosomal STRs being normally utilized in the field of forensic exhibit low haplotype diversity in endogamous populations and fail to discriminate among male relatives from same pedigree. Rapidly mutating Y-STRs (RM Y-STRs) have been paid much attention in last decade. These 13 RM Y STRs have high mutation rates (>10-2) and have considerably higher haplotype diversity and discrimination capacity than conventionally used Y-STRs showing remarkable power, when it comes to differentiation in paternal lineages in endogamous populations. Previously, we have analyzed 2–4 generation, 99 pedigrees covering 1568 pairs of men covering 1–6 meioses from all over Pakistan and 216 male relatives from 18 deep rooted endogamous Sindhi pedigrees covering 1-7 meioses. Here we are presenting 861 pairs of men from 63 endogamous pedigrees covering 1-6 meioses from Punjabi population of Punjab, Pa...
The rise and expansion of Tibetan Empire in the 7th to 9th centuries AD affected the course of hi... more The rise and expansion of Tibetan Empire in the 7th to 9th centuries AD affected the course of history across East Eurasia, but the genetic impact of Tibetans on surrounding populations remains undefined. We sequenced 60 genomes for four populations from Pakistan and Tajikistan to explore their demographic history. We showed that the genomes of Balti people from Baltistan comprised 22.6–26% Tibetan ancestry. We inferred a single admixture event and dated it to about 39–21 generations ago, a period that postdated the conquest of Baltistan by the ancient Tibetan Empire. The analyses of mitochondrial DNA, Y, and X chromosome data indicated that both ancient Tibetan males and females were involved in the male-biased dispersal. Given the fact that the Balti people adopted Tibetan language and culture in history, our study suggested the impact of Tibetan Empire on Baltistan involved dominant cultural and minor demic diffusion.
The FUT3 (Lewis) gene is responsible for the expression of Lewis fucosyltransferase, which is req... more The FUT3 (Lewis) gene is responsible for the expression of Lewis fucosyltransferase, which is required for the synthesis of the structural determinants of both Lewisa and Lewisb 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 previousl...
Abstract Background In China, most Koreans live in the Northeast, including Jilin (59.64%), Heilo... more Abstract Background In China, most Koreans live in the Northeast, including Jilin (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, while the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. Aim The Combined DNA Index System or CODIS has been increased from thirteen to twenty loci, so it is important to generate improved profiles with the help of these additional loci. Subjects and methods In the current study we have analysed 564 unrelated individuals from the Yanbian Korean population using the GoldenEyeTM 20 A kit (Beijing PeopleSpot Inc). Allelic frequencies, population comparisons and forensic statistical parameters of commonly used short tandem repeats were calculated for the Yanbian Korean population from Jilin province, P.R. China. Results A total of 232 alleles were observed and all the loci were found to be in Hardy-Weinberg equilibrium after Bonferroni correction. The combined power of discrimination was 99. 999999999999999999999913% and the combined power of exclusion was 0.999999995349261. Conclusion Phylogenetic parameters showed that the Yanbian Koreans living in Jilin had the closest genetic relationship with South Koreans and other East Asian populations. The present study provides a precise reference database of Jilin Koreans for forensic applications and studies of population genetics.
Different fixation modalities are available for fixation of posterior malleolar fractures (PMFs),... more Different fixation modalities are available for fixation of posterior malleolar fractures (PMFs), but the best method is still unclear. The purpose of this study was to carry out a comparative biomechanical analysis of three commonly used fixation constructs for PMFs using experimental and finite element analysis (FEA). 15 human cadaveric ankle specimens were randomly divided into three groups. Specimens in group-A were fixed with two anteroposterior (AP) lag screws, group-B with two posteroanterior (PA) lag screws, and for group-C, a posterior plate was used. Each model was subjected to axial load. Outcomes included loads for 0.5 mm, 1 mm, 1.5 mm, and 2 mm vertical displacements of posterior fragments were noted. 3D FE models were reconstructed from computed tomography (CT) images and subjected to vertical loads. The model’s stress, fracture step-off, and resultant strains in implants were also studied in 3D FE models. Significantly higher amounts of mean compressive loads were obs...
Microsatellites or short tandem repeats (STRs) are considered the gold standard for forensic inve... more Microsatellites or short tandem repeats (STRs) are considered the gold standard for forensic investigations and autosomal STRs are used for routine forensic personal identification.
ABSTRACTCOVID-19 is a newly communicable disease with a catastrophe outbreak that affects all ove... more ABSTRACTCOVID-19 is a newly communicable disease with a catastrophe outbreak that affects all over the world. We retrieved about 8,781 nucleotide fragments and complete genomes of SARS-CoV-2 reported from sixty-four countries. The CoV-2 reference genome was obtained from the National Genomics Data Center (NGDC), GISAID, and NCBI Genbank. All the sequences were aligned against reference genomes using Clustal Omega and variants were called using in-house built Python script. We intend to establish a user-friendly online resource to visualize the variants in the viral genome along with the Primer Infopedia. After analyzing and filtering the data globally, it was made available to the public. The detail of data available to the public includes mutations from 5688 SARS-CoV-2 sequences curated from 91 regions. This database incorporated 39920 mutations over 3990 unique positions. According to the translational impact, these mutations include 11829 synonymous mutations including 681 synony...
Background: Dalian is a city formed in the 1880s in Liaoning province, Northeastern China with a ... more Background: Dalian is a city formed in the 1880s in Liaoning province, Northeastern China with a population of 6.69 million now. Han is the largest ethnic group not only across Mainland China (92%) and Taiwan (97%) but also considered to be the largest ethnic group of the world contributing to above 18% of world's population. Methods: In the current study, we genotyped Goldeneye ® 20Y System loci in 879 unrelated male individuals from the Han ethnic group in Dalian city and calculated the forensic parameters of the 20 Y-STR loci. Results: In total, we observed 855 haplotypes, among which 835 (94.99%) were unique. The discrimination capacity (DC) of overall Goldeneye ® 20Y System is 97.27% and it slightly reduces to 96.93% when only Y-filer® set of 17 Y-STRs were used, which mitigates using the extended set of markers in this population. We found DYS388 showed the lowest gene diversity (0.5151), whereas DYS389II showed the highest gene diversity (0.7621) in single copy Y-STR, and DYS385 showed the highest gene diversity (0.9683) among all. Conclusion: Multidimensional scaling (MDS) analysis based upon pairwise Rst genetic distance showed difference among Han population from the east to the west and from the north to the south. We also predicted haplogroups using Y-STR haplotypes, which showed the dominance of Haplogroup O (65.2%) followed by Haplogroup C (14.5%) in Dalian Han population. Moreover, we found 10 individuals showed a null allele at the DYS448 in our samples. We also performed linear discriminatory analysis (LDA) between Han and other prominent Chinese minority ethnic groups. We presented Y-STRs data in the Y-Chromosome Haplotype Reference Database (YHRD) for the future forensic and other usage.
Genetic structure of a population can be influenced by evolutionary processes and cultural histor... more Genetic structure of a population can be influenced by evolutionary processes and cultural histories which can alter the frequencies of different variants at particular genetic markers. These characteristics make DNA evidence suitable for forensic applications. Little relevant data are available from the interior Sindhi population; thus, in the current study, we have investigated 15 autosomal STRs in 181 unrelated individuals belonging to the interior parts of Sindh Pakistan, to establish its lineage and parameters of forensic interest. These STRs revealed a high power of discrimination (CPD), power of exclusion (CPE) and matching probability (CMP) are 0.9999999999999999968997, 0.99998612 and 3.1003 × 10–18 respectively. The genetic distances, neighbour‐joining (NJ) tree, interactivity test and principal component analysis (PCA) based on 15 autosomal STR loci showed that the interior Sindhi population had a closer genetic relationship with Pakistani populations and distant relationships with regional (India and Afghanistan) populations. The present findings exhibited that STRs included in AmpFLSTR Identifiler kit (Applied Biosystems) are genetically polymorphic in the interior Sindhi population of Pakistan. This study provides valuable population genetic data for the genetic information study, forensic human individual identification and paternity testing.
For more information about UCLan's research in this area go to and search for <name of research G... more For more information about UCLan's research in this area go to and search for <name of research Group>.
Abstract Background: Short tandem repeats (STRs) are genetic markers that are more informative th... more Abstract Background: Short tandem repeats (STRs) are genetic markers that are more informative than single nucleotide polymorphisms and they are widely used in forensic DNA analysis. Aim: To carry out the genetic analysis of 20 autosomal STR loci in Han individuals of Putian City, Southeast China, to expand the available population information for human genetic databases and forensic analysis. Subjects and methods: Saliva swabs from 1417 unrelated Chinese Han individuals from Putian City of Southeast China were collected and then genotyped using the SureID® 21G Human STR Identification Kit. Moreover, phylogenetic analysis based on the Nei’s standard genetic distance was performed between the Han population and other relevant populations based on the shared autosomal STR genotyping. Results: We found 272 alleles among 1417 unrelated individuals and the corresponding allelic frequencies ranged from 0.5409 to 0.0004. The combined power of exclusion (CPE) was 0.999999995514, and the combined power of discrimination (CPD) was 0.9999999999999999999999994061. Population comparison revealed that the Putian Han population makes a cluster with other Han populations from China while showing significant differences when compared with other worldwide populations. Conclusions: Our results found that the SureID® 21G Human STR Identification Kit panel was appropriate for forensic identity testing and paternity testing. Putian Han population had a closer genetic relationship with Han populations from other regions in China, while other minorities like Uighurs and Kazakhs from China showed significant differences.
Abstract Background: Short tandem repeats (STRs) have gained considerable attention in family sea... more Abstract Background: Short tandem repeats (STRs) have gained considerable attention in family search (Y-chromosomal STRs), complex paternity identification (X-chromosomal STRs), routine forensic personal identification (autosomal STRs) and population genetics. Aim: To explore the forensic characteristics of 23 autosomal STRs included in the Huaxia Platinum system in the South Pakistan Hazara population and investigate the genetic similarities and differences between Hazara and 54 worldwide reference populations. Subjects and methods: Variation of the 23 autosomal STRs included in the Huaxia Platinum system was first investigated and reported in a sample of 261 Quetta Hazara in Balochistan Province, Southwest Pakistan. Results: The combined power of discrimination is 0.999999999999999999999999999 and combined power of exclusion is 0.99999999989596 in Quetta Hazara. Comprehensive population comparisons between Hazara and another 13 Eurasian populations based on genotype data, as well as between Hazara and 54 worldwide populations based on the allele frequency distribution, were conducted. Multidimensional scaling plots, principal component analysis, and neighbour-joining phylogenetic trees consistently demonstrated that Pakistan Hazara harbours close affinities with neighbouring Turkic-speaking populations. Model-based genetic structure analysis further suggests that Quetta Hazara derives about half its ancestry directly from the East Asians. Conclusion: Twenty-five forensic-related markers included in the Huaxia Platinum system can be used for forensic practice in the Central Asia Hazara population. Quetta Hazara has a close genetic relationship with the Turkic-speaking populations of Uyghur and Kazakh. Further whole-genome sequencing of Hazara needs to be conducted to validate the observed genetic structure and reconstruct the fine-scale population history of Hazara.
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Papers by Atif Adnan