Mutation analysis of 21 STR loci in 587 cases of paternity testing
ZHOU Bingyi XU Shanshan GU Heng LI Mingzhen ZHENG Lixin▲
National Health Council Key Laboratory of Male Reproduction and Genetics, Family Planning Research Institute of Guangdong Province, Guangdong Province, Guangzhou 510600, China
Abstract：Objective To observe and analyze the mutation phenomenon of 21 short tandem repeats STR loci in paternity testing cases, and explore the application value of the multiple amplification typing system in paternity testing. Methods The 1628 samples from 587 paternity test cases were collected from January 2016 to Decomber 2019. The template DNA was extracted by Chelex-100 method, and amplification of 21 STR loci was performed using STRtyper-21-G kit. PCR products were separated and detected by capillary electrophoresis in an ABI 3500 genetic analyzer. Genotyping was done using allelic ladders provided with the kit and the GeneMapperID-X1.3 software. Results Among the 587 cases of paternity testing, 443 were triplets and 114 were doublets; 30 cases (5.11%) were excluded; 557 cases (94.89%) were identified. A total of 20 mutations were observed in 19 mutation cases in 557 cases, including 19 mutations in one step and one mutation in two steps; the ratio of paternal mutation to maternal mutation was 8∶1. Conclusion The 21 STR loci review amplification typing system has high non-paternal exclusion performance, which can meet the needs of daily paternity testing. At the same time, STR locus mutation is a relatively common phenomenon. If necessary, supplement detection of STR locus and the use of sequencing to ensure the accuracy of the identification results.
[1] 宋瑞雅，宋秀宇.亲权鉴定中短串联重复序列基因座遗传学的研究进展[J].国际检验医学杂志，2017，38（4）：503-505.
[2] 党珍，侯秀迪，张晗，等.鲁西南地区汉族人群15个STR基因座的突变观察与分析[J].济宁医学院学报，2017，40（6）：434-438.
[3] 王文菲，吕自力，张勇，等.新疆哈萨克族15个常染色体STR位点检测及40个中国人群遗传关系[J].郑州大学学报：医学版，2017，52（3）：274-281.
[4] Yu XL，Wen QZ，Yun SJ，et al. Multistep microsatellite mutation in a case of non-exclusion parentage [J]. Forensic Sci Int Genet，2015，16（5）：205-207.
[5] 李亚男，李敏，姜磊，等.43个SNP遗传标记复核检验体系的建立及其法医学应用[J].法医学杂志，2018，34（2）：126-131.
[6] Meng HT，Zhang LP，Wu H，et al. Genetic diversities of 20 novel autosomal STRs in Chinese Xibe ethnic group and its genetic relationships with neighboring populations [J]. Gene，2015，557（2）：222-228.
[7] Zhu BF，Zhang YD，Shen CM，et al. Developmental validation of the AGCU 21+1 STR kit：a novel multiplex assay for forensic application [J]. Electrophoresis，2015，36（2）：271-276.
[8] 胡利平，聂爱婷，张秀峰，等.云南人群1199例亲子鉴定案件基因突变分析[J].广东医学，2016，37（9）：1370-1372.
[9] 何保仁，申卫东，刘学军，等.广西地区1786例亲子鉴定STR基因位点突变的观察与分析[J].重庆医学，2016，45（9）：1190-1194.
[10] 兰菲菲，陈延冰，杜丽，等.亲子鉴定常用STR基因座突变的特点[J].广东医学，2016，37（2）：218-220.
[11] Hamester FIR，Silva DS，Leboute APM，et al. Slippage mutation rates in 15 autosomal short tandem repeat loci for forensic purposes in a Southeastern Brazilian population [J]. Electrophoresis，2019，40（21）：2873-2876.
[12] Zhang B，Li Z，Li K，et al. Forensic parameters and mutation analysis of 23 short tandem repeat （PowerPlex?誖 Fusion System） loci in Fujian Han Chinese population [J]. Leg Med，2019，37：33-36.
[13] Wang HD，Kang B，Su N，et al. Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population [J]. Int J Legal Med，2017，131（1）：103-105.
[14] Liu QL，Chen YF，Huang XL，et al. Population data and mutation rates of 19 STR loci in seven provinces from China based on GoldeneyeTM DNA ID system 20A [J]. Int J Legal Med，2017，131（3）：653-656.
[15] Shao CC，Lin MX，Zhou ZH，et al. Mutation analysis of 19 autosomal short tandem repeats in Chinese Han population from Shanghai [J]. Int J Legal Med，2016，130（6）：1439-1444.
[16] Sun LJ，Shi K，Tan L，et al. Analysis of genetic polymorphisms and mutations at 19 STR loci in Hebei Han population [J]. Forensic Sci Int Genet，2017，31：e50-e51.
[17] Xiao C，Peng ZY，Chen FL，et al. Mutation analysis of 19 commonly used short tandem repeat loci in a Guangdong Han population [J]. Legal Med，2018，32：92-97.
[18] Yang MQ，Ren Z，Ji JY，et al. Population genetic data and mutations of 22 autosomal STR loci in Guizhou Han population [J]. Forensic Sci Int Genet，2017，29：e29-e30.
[19] Zhang XF，Liu LL，Xie RF，et al. Population data and mutation rates of 20 autosomal STR loci in a Chinese Han population from Yunnan Province，Southwest China [J]. Int J Legal Med，2018，132（4）：1083-1085.
[20] 吴薇薇，刘冰，王彦斌，等.中国汉族人群41个STR基因座突变情况的观察分析[J].中国法医学杂志，2017， 32（1）：29-32.
[21] 侯一平.法医物证学[M].北京：人民卫生出版社，2016：181.
[22] Vieira TC，Gigonzac MAG，Rodovalho RG，et al. Mutation rates in 21 autosomal short tandem repeat loci in a population from Goiás，Brazil [J]. Electrophoresis，2017，38（21）：2791-2794.
[23] Zhang QX，Yang M，Pan YJ，et al. Development of a massively parallel sequencing assay for investigating sequence polymorphisms of 15 short tandem repeats in a Chinese Northern Han population [J]. Electrophoresis，2018，39（21）：2725-2731.
[24] Jin B，Su Q，Luo HB，et al. Mutational analysis of 33 autosomal short tandem repeat （STR） loci in southwest Chinese Han population based on trio parentage testing [J]. Forensic Sci Int Genet，2016，23：86-90.
[25] 苏丽娟，王忆霄，单鑫，等.306例亲子鉴定案件基因突变的观察与分析[J].基因组学与应用生物学，2019，38（8）：3511-3514.
2021, Vol. 18 
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