Mutation Analysis of Autosomal STR Loci Commonly Used in Paternity Testing in Bosnia and Herzegovina

Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 cases 14 mutations were discovered at 11 loci. Among all tested DNA profiles two mutations occurred at D8S1179, D18S51 and FGA loci each, and one mutation at PENTA D, D3S1358, CSF1P0, D21S11, D5S818, vWA, D16S539, PENTA E. Mutation rates were calculated for 11 loci and were in consistency with mutation rates reported for correspondent locus. In our study, one mutation at locus PENTA D derives from maternal source. Also in one trio paternity case two single-step mutations at loci D16S539 and D18S51 were observed. Our results confirmed mutation analysis is important in paternity testing and therefore much attention should be directed at their analysis

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Mutation analysis of 24 autosomal STR loci using in paternity testing

Forensic Science International Genetics Supplement Series ◽

10.1016/j.fsigss.2011.08.080 ◽

2011 ◽

Vol 3 (1) ◽

pp. e159-e160 ◽

Cited By ~ 4

Author(s):

H.X. Li ◽

D.Y. Tong ◽

H.L. Lu ◽

X.L. Ou ◽

W.J. Chen ◽

...

Keyword(s):

Mutation Analysis ◽

Paternity Testing ◽

Str Loci ◽

Autosomal Str

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Incorrect opinions in disputed paternity cases – causes of discrepancies. A case report

Issues of Forensic Science ◽

10.34836/pk.2016.294.2 ◽

2016 ◽

Vol 294 ◽

pp. 59-65

Author(s):

Kornelia Droździok ◽

◽

Jadwiga Kabiesz ◽

Marcin Tomsia ◽

◽

...

Keyword(s):

Case Report ◽

Forensic Genetics ◽

Genetic Profile ◽

Great Role ◽

Str Loci ◽

Autosomal Str ◽

The People ◽

Genetic Profiles ◽

Paternity Cases

In the report we have presented cases where false opinions concerning disputed paternity and blood relationship establishment were issued. In case 1a wrong assumption resulted in a false opinion in which paternity was excluded. The genetic profile of the child’s deceased defendant father was generated from genetic profiles of the child’s grandparents. In the issued opinion it was concluded that the deceased is not the child’s father. Based on analysis of grandparents’ genetic profiles we can only conclude that the child is not their grandchild. In disputed paternity cases where DNA from the child’s relatives (grandparents, siblings etc.) but not its parents is examined, many autosomal STR loci should be determined and if needed, STR loci on chromosome Y and X. Moreover, statistical analysis should be carried out. In case 2 the opinion was issued based on the fact that there were no excluding traits between defended relatives. In case 3 sampling was not done according to the proceedings, which did not allow to establish whether the sent samples were from the people mentioned in the protocol and finally a false opinion was issued. The report confirms a great role of a forensic genetics expert in issuing a true opinion concerning disputed paternity or blood relationship.

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Paternity testing allowing for uncertain mutation rates

10.1093/oxfordhb/9780198703174.013.8 ◽

2018 ◽

Author(s):

Elmira Popova ◽

David Morton ◽

Paul Damien ◽

Tim Hanson

Keyword(s):

Mutation Rate ◽

Probabilistic Reasoning ◽

Forensic Genetics ◽

Genetic Mutation ◽

Paternity Testing ◽

Suitable Model ◽

Mutation Process ◽

Simple Analysis ◽

Single Marker ◽

Paternity Case

This article discusses the use of probabilistic reasoning to analyse a disputed paternity case, where the DNA genotypes are compatible on all markers but one, allowing for the possibility of mutation, when the mutation rate is itself uncertain. It first describes the construction and Bayesian analysis of a suitable model for paternity testing, taking into account the potentially misleading effect of genetic mutation and allowing for mutation rate uncertainty, before introducing the simplest type of disputed paternity case. It then considers a specific disputed paternity case, in which an apparent exclusion at a single marker could indicate either non-paternity or mutation, as well as the features of the mutation process that need to be accounted for in the analysis. The results of a simple analysis of the specific disputed paternity case are examined and the analysis is set in the broader context of DNA profiling and forensic genetics.

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Population genetic polymorphism and mutation analysis of 19 autosomal STR loci in Jiangsu Han individuals in Eastern China

Annals of Human Biology ◽

10.1080/03014460.2019.1632929 ◽

2019 ◽

Vol 46 (3) ◽

pp. 272-278 ◽

Cited By ~ 1

Author(s):

Meng Pan ◽

Qin Ye ◽

Xiao-Bin Ju ◽

He Cui ◽

Hui-Ying Zhou

Keyword(s):

Genetic Polymorphism ◽

Mutation Analysis ◽

Population Genetic ◽

Eastern China ◽

Str Loci ◽

Autosomal Str

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Evaluation and comparison of population genetics software in Rabari Tribe of Gujarat population

Egyptian Journal of Forensic Sciences ◽

10.1186/s41935-021-00239-1 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Aditi Mishra ◽

Archana Kumari ◽

Sumit Choudhary ◽

Ulhas Gondhali

Keyword(s):

Population Genetics ◽

Population Data ◽

Genomic Diversity ◽

Match Probability ◽

Statistical Software ◽

Str Loci ◽

Autosomal Str ◽

Forensic Practice ◽

Population Structures ◽

Dna Profiles

Abstract Background Today, when forensic experts talk about quantifiable hereditary traits, they do not just depend on the assessment and examination of DNA profiles but also relate them to the population structures. The use of high-throughput molecular marker technologies and advanced statistical and software tools have improved the accuracy of human genetic diversity analysis in many populations with limited time and resources. The present study aimed to investigate the genomic diversity in Gujarat’s Rabari population, using 20 autosomal genetic markers. Numerous bio-statistical software programs are available for the interpretation of population data in forensics. These statistics deal with the measurement of uncertainty and also provides a probability of a random match. The present paper aims to provide a practical guide to the analysis of population genetics data. Three statistical software packages named Cervus, Genepop, and Fstat are compared and contrasted. The comparison is performed on the profiles obtained from fifty unrelated blood samples of healthy male individuals. DNA was extracted using the organic extraction method, 20 autosomal STR loci were amplified using PowerPlex 21 kit (Promega, Madison, WI, USA) and detected on 3100 Genetic Analyser (Life Technologies Corporation, Carlsbad, CA, USA). Results A total of 170 alleles were observed in the Rabari Tribe of Gujarat population, and allele frequencies ranged from 0.010 to 0.480. The highest allele frequency detected was 0.480 for allele 9 at locus TH01. Based on heterozygosity and the polymorphism information content, FGA may be considered as the most informative markers. Both the combined power of discrimination (CPD) and the combined power of exclusion (CPE) for the 20 analyzed loci were higher than 0.999999. The combined match probability (CPM) for all 20 loci was 2.5 × 10−22. Conclusions With respect to the results, the 20 STR loci are highly polymorphic and discriminating in the Gujarat population and could be used for forensic practice and population genetics studies. However, Fstat demonstrated better genetic software for analysis of the demographic structure of a specific or set of populations.

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Analysis of allele frequencies of the selected 15 autosomal STR markers in Tikrit population – Iraq with comparison to Middle Eastern, African, and Europeans

Asia Pacific Journal of Molecular Biology and Biotechnology ◽

10.35118/apjmbb.2021.029.2.08 ◽

2021 ◽

pp. 75-84

Author(s):

Maan Hasan Salih ◽

Akeel Hussain Ali Al-Assie ◽

Majeed Arsheed Sabbah

Keyword(s):

Tandem Repeats ◽

Human Genetics ◽

Forensic Genetics ◽

Middle Eastern ◽

Allele Frequencies ◽

Match Probability ◽

Discrimination Power ◽

Str Loci ◽

Dna Database ◽

Autosomal Str

Short tandem repeats (STRs) have been recommended as the highest polymorphic loci among the humana DNA regions. Therefore, STRs are agreeable to many genetic fields like forensic, population genetics and anthropological studies. The main aim of this research is to evaluate the autosomal STRs in Tikrit city-Iraq, to expand the human genetics database and forensic genetics analysis. The DNA database was obtained from 306 unrelated volunteers from native Tikrit population-Iraq, using 15 autosomal STR loci. The current study determined the allele frequencies in the Tikrit population and then compared them with other national Iraqi populations as well as with populations in the Middle East, Africa, and Europe. The highest level of heterozygosity was observed in D8S1179 and TH01 loci (0.797), while the less level was shown by CSF1PO (0.48). The departure from HWE Equilibrium was recorded in only 3 STR loci from a total of 15 loci analyzed (p<0.003). The Combined Match Probability (CMP) for 15 autosomal STR was 1 in 7.89208×10-19 and the Combined Discrimination Power (CDP) was 0.9999999997. The discrimination power (DP) was especially high in D2S1338, D18S51, D19S433 and D21S11. Based on the results observed in a Dendrogram, Tikrit population was clustered with other populations, likely reflecting the historical and geographical factors. D2S1338, D18S51, D19S433 and D21S11 markers were recognized as suitable for forensic genetics analysis in Tikrit population. Also, the 15 STRs markers provide information for the studies of genetic distances between the current study and other included populations to be compared with this study.

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Population data and mutation rates of 20 autosomal STR loci in a Chinese Han population from Yunnan Province, Southwest China

International Journal of Legal Medicine ◽

10.1007/s00414-017-1675-6 ◽

2017 ◽

Vol 132 (4) ◽

pp. 1083-1085 ◽

Cited By ~ 7

Author(s):

Xiufeng Zhang ◽

Linlin Liu ◽

Runfang Xie ◽

Guiyi Wang ◽

Yuan Shi ◽

...

Keyword(s):

Yunnan Province ◽

Southwest China ◽

Population Data ◽

Chinese Han Population ◽

Mutation Rates ◽

Chinese Han ◽

Han Population ◽

Str Loci ◽

Autosomal Str

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Mutation rate estimation for 15 autosomal STR loci in a large population from Mainland China

10.1101/015875 ◽

2015 ◽

Author(s):

Zhuo Zhao ◽

Hua Wang ◽

Jie Zhang ◽

Zhi-Peng Liu ◽

Ming Liu ◽

...

Keyword(s):

Population Genetics ◽

Mutation Rate ◽

Large Population ◽

Mainland China ◽

Mutation Rates ◽

Str Analysis ◽

Str Loci ◽

Autosomal Str ◽

Parents And Children ◽

Genetic Assessment

STR, short trandem repeats, is well known as a type of powerful genetic marker and widely used in studying human population genetics. Compared with the conventional genetic markers, the mutation rate of STR is higher. Additionally, the mutations of STR loci do not lead to genetic inconsistencies between the genotypes of parents and children; therefore, the analysis of STR mutation is more suited to assess the population mutation. In this study, we focused on 15 autosomal STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA). DNA samples from a total of 42416 unrelated healthy individuals (19037 trios) from the population of Mainland China collected between Jan 2012 and May 2014 were successfully investigated. In our study, the allele frequencies, paternal mutation rates, maternal mutation rates and average mutation rates were detected in the 15 STR loci. Furthermore, we also investigated the relationship between paternal ages, maternal ages, pregnant time, area and average mutation rate. We found that paternal mutation rate is higher than maternal mutation rate and the paternal, maternal, and average mutation rates have a positive correlation with paternal ages, maternal ages and times respectively. Additionally, the average mutation rates of coastal areas are higher than that of inland areas. Overall, these results suggest that the 15 autosomal STR loci can provide highly informative polymorphic data for population genetic assessment in Mainland China, as well as confirm and extend the application of STR analysis in population genetics.

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