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

2015 ◽  
Author(s):  
Zhuo Zhao ◽  
Hua Wang ◽  
Jie Zhang ◽  
Zhi-Peng Liu ◽  
Ming Liu ◽  
...  

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.

Meta Gene ◽  
2015 ◽  
Vol 5 ◽  
pp. 150-156 ◽  
Author(s):  
Zhuo Zhao ◽  
Jie Zhang ◽  
Hua Wang ◽  
Zhi-Peng Liu ◽  
Ming Liu ◽  
...  

2019 ◽  
Vol 7 (1) ◽  
pp. 187-188
Author(s):  
Mohammed Naji ◽  
Ruksar Damji ◽  
Ahmed Adan ◽  
Synan Abu Qamar ◽  
Rashed Alghafri

2019 ◽  
Vol 83 (5) ◽  
pp. 318-324 ◽  
Author(s):  
Zhi‐liang Zhao ◽  
Lu Xia ◽  
Cong Zhao ◽  
Fuad Ameen ◽  
Sami Alyahya ◽  
...  

2015 ◽  
Vol 36 (19) ◽  
pp. 2498-2503 ◽  
Author(s):  
Yi Li ◽  
Yine Hong ◽  
Xiujiang Li ◽  
Jinmeng Yang ◽  
Lanjiang Li ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Aditi Mishra ◽  
Archana Kumari ◽  
Sumit Choudhary ◽  
Ulhas Gondhali

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.


Genetics ◽  
2000 ◽  
Vol 156 (1) ◽  
pp. 449-456 ◽  
Author(s):  
Damian D G Gessler ◽  
Shizhong Xu

Abstract The classical understanding of recombination is that in large asexual populations with multiplicative fitness, linkage disequilibrium is negligible, and thus there is no selective agent driving an allele for recombination. This has led researchers to recognize the importance of synergistic epistatic selection in generating negative linkage disequilibrium that thereby renders an advantage to recombination. Yet data on such selection is equivocal, and various works have shown that synergistic epistasis per se, when left unquantified in its magnitude or operation, is not sufficient to drive the evolution of recombination. Here we show that neither it, nor any mechanism generating negative linkage disequilibrium among fitness-related loci, is necessary. We demonstrate that a neutral gene for recombination can increase in frequency in a large population under a low mutation rate and strict multiplicative fitness. We work in a parameter range where individuals have, on average, less than one mutation each, yet recombination can still evolve. We demonstrate this in two ways: first, by examining the consequences of recombination correlated with misrepaired DNA damage and, second, by increasing the probability of recombination with declining fitness. Interestingly, the allele spreads without repairing even a single DNA mutation.


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