Abstract
[Objective] To analyze the mutation signature and regularity of STR locus on 23 autosomes in paternity testing cases in Hainan. [Methods] A total of 2715 paternity testing cases accepted by the Forensic Medical Identification Centre of our hospital from 2017 to 2020 derived from counties and cities in Hainan Province were collected, the cases containing gene mutations were selected, the mutation rate and details of each locus were counted, and the mutation regu-larity of 23 STR loci was analyzed. [Results] Of the 2715 cases identified as “support”, 1487 were triplet cases and 1640 were dyad cases, totaling 4614 meioses; There were 50 gene mutation events (including 17 triplet mutations and 33 dyad mutations), with an average mutation rate of 0.0047% and a cumulative mutation rate of 1.0837%. A total of 19 of the 23 STR loci were mutated, with a mutation rate of 0.1301% at the D12S391 locus and 0.0217% at five loci, TPOX, D1S1656, D2S441, D22S1045, and PentaD, while no muta-tion events were found at four loci, D19S433, TH01, D13S317, and D7S820. Of the 50 mutation events, 47 were one-step mutations, 1 was two-step, and 2 were three-step. There were 35 paternal mutations (13 triplets and 22 dyads), 6 maternal mutations (4 triplets and 2 dyads), and 9 indeterminate pater-nal/maternal mutations, with a paternal to maternal mutation ratio of 5.83:1. [Conclusion] The mutation rate of D12S391 locus is the highest, and the muta-tion rate of TPOX, D1S1656, D2S441, D22S1045 and PentaD loci is the lowest in Hainan population, and paternal mutations are more than maternal muta-tions. In the paternity test, if 1 - 3 STR loci do not conform to the genetic law, especially when the mutant locus is homozygous or the next of kin is identi-fied, it is necessary to use other kits to review and increase the number of loci or use the second-generation sequencing technology to confirm, carefully de-termine the mutation and ensure the accuracy of the identification conclusion.
Highlights
IntroductionShort tandem repeat (STR) refers to the core repeat formed by tandem connection with relatively constant 2 - 6 bases as repeat units, known as satellite
Short tandem repeat (STR) refers to the core repeat formed by tandem connection with relatively constant 2 - 6 bases as repeat units, known as satelliteDNA, the most commonly used genetic marker in forensic physical evidence identification
The mutation rate of D12S391 was the highest, the mutation rate of TPOX, D1S1656, D2S441, D22S1045 and PentaD was the lowest, and no mutation was found at D19S433, TH01, D13S317 and D7S820
Summary
Short tandem repeat (STR) refers to the core repeat formed by tandem connection with relatively constant 2 - 6 bases as repeat units, known as satellite. DNA, the most commonly used genetic marker in forensic physical evidence identification. Because STR typing technology has the characteristics such as high sensitivity, standardization and automatic typing, it has become the leading technology for forensic physical evidence identification. The mutation signature of STR loci on 23 autosomes in 2715 paternity cases from counties and cities in Hainan Province were analyzed to provide a reference for STR mutation data of Hainan regional and nationwide
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