基于有限突变模型和大规模数据的19个常染色体STR的实际突变率研究

doi:10.16288/j.yczz.21-197

遗传 ›› 2021, Vol. 43 ›› Issue (10): 949-961.doi: 10.16288/j.yczz.21-197

基于有限突变模型和大规模数据的19个常染色体STR的实际突变率研究

刘志勇², 任贺³, 陈冲⁴, 张京晶⁵, 张晓梦¹, 石妍⁴, 石林玉¹, 陈滢⁴, 程凤¹, 贾莉⁴, 陈曼⁶, 范庆炜⁷, 张家榕¹, 李万婷¹, 王萌春¹, 任子林⁸, 刘雅诚⁴, 倪铭⁸, 孙宏钰², 严江伟¹()

1. 山西医科大学法医学院,太原 030001
2. 中山大学中山医学院法医学系,广州 510080
3. 北京警察学院,北京 102202
4. 北京通达首诚司法鉴定所,北京 100192
5. 北京华彦科技有限公司司法鉴定所,北京 100192
6. 南方医科大学法医学院,广州 510515
7. 川北医学院法医学系,南充 637000
8. 北京辐射医学研究所,北京 100850

收稿日期:2021-06-02 修回日期:2021-08-18 出版日期:2021-10-20 发布日期:2021-08-31
通讯作者: 严江伟 E-mail:yanjw@sxmu.edu.cn
作者简介:刘志勇,博士研究生,研究方向：法医遗传学。E-mail: liuzhy255@mail2.sysu.edu.cn;|任贺,硕士,副教授,研究方向：法医遗传学。E-mail: snoopy_fr@sohu.com; 刘志勇和任贺并列第一作者。
基金资助:
国家自然基金重点项目资助编号(82030058)

Actual mutational research of 19 autosomal STRs based on restricted mutation model and big data

Zhiyong Liu², He Ren³, Chong Chen⁴, Jingjing Zhang⁵, Xiaomeng Zhang¹, Yan Shi⁴, Linyu Shi¹, Ying Chen⁴, Feng Cheng¹, Li Jia⁴, Man Chen⁶, Qingwei Fan⁷, Jiarong Zhang¹, Wanting Li¹, Mengchun Wang¹, Zilin Ren⁸, Yacheng Liu⁴, Ming Ni⁸, Hongyu Sun², Jiangwei Yan¹()

1. School of Forensic Medicine, Shanxi Medical University, Taiyuan 030001, China
2. Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China
3. Beijing Police College, Beijing 102202, China
4. Beijing Tongda Shoucheng Institute of Forensic Science, Beijing 100192, China
5. Beijing Huayan Judicial Authentication Institute, Beijing 100192, China
6. School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China
7. Faculty of Forensic Medicine, North Sichuan Medical College, Nanchong 637000, China
8. Beijing Institute of Radiation Medicine, Beijing 100850, China

Received:2021-06-02 Revised:2021-08-18 Online:2021-10-20 Published:2021-08-31
Contact: Yan Jiangwei E-mail:yanjw@sxmu.edu.cn
Supported by:
Supported by the National Natural Science Foundation of China No(82030058)

摘要/Abstract

摘要：

短串联重复序列(short tandem repeat, STR)已广泛用于法医学亲子鉴定和个体识别中,但STR的突变可能会影响其结果的解释。在大多数类似研究中,由于忽略“隐性”突变现象,STR的突变率被低估。鉴于此,为获得更加准确的STR实际突变率,本研究使用Slooten与Ricciardi提出的有限突变模型和大规模数据,对28,313例(78,739个体)中国北京汉族已确认亲生关系的亲子鉴定案的20个常染色体STR基因座(D3S1358、D1S1656、D13S317、Penta E、D16S539、D18S51、D2S1338、CSF1PO、Penta D、TH01、vWA、D21S11、D6S1043、D7S820、D5S818、TPOX、D8S1179、D12S391、D19S433和FGA;由于有限突变模型中未包含D6S1043的矫正参数,因此本文实际计算其余19个STR基因座的突变率)进行了调查。结果发现,所有基因座均存在突变现象,总计发生1665个突变事件,包括1614个一步突变,34个两步突变,8个三步突变和9个非整步突变。基因座特异性的平均实际突变率在三联体中为0.00007700 (TPOX)~0.00459050 (FGA),在二联体中为0.00000000 (TPOX)~0.00344850(FGA)。此外,本研究还分析了表面和实际突变率、三联体和二联体突变率、父源和母源的突变率之间的关系。研究表明,实际突变率多大于表面突变率,而且μ1”/μ2” (表面突变率)的比值通常也大于μ1/μ2 (实际突变率) (μ1”,μ1; μ2”, μ2分别是一步和两步的突变率),即更多的“隐性”突变被释放出来。而且父源和母源的三联体和二联体的突变率也有存在差异。随后,将这些突变率数据与已发表的中国其他汉族人口的相关研究进行比较,展现出了STR突变率的时间与区域差异。由于样本量大,本研究中还报告了一些少见的突变事件,例如同卵双胞胎突变和“假四步突变”等。综上所述,本研究通过大量数据获得了接近真实的STR突变率的估计值,不仅可为中国法医DNA数据库和群体遗传学数据库提供重要的基础数据,也对开展法医学个体识别、亲权鉴定和遗传学研究具有重要的意义。

关键词: 常染色体STR, 有限突变模型, 亲子鉴定, 中国汉族人群, 突变分析

Abstract:

Short tandem repeat (STR) markers have been widely used in forensic paternity testing and individual identification, but the STR mutation might impact on the forensic result interpretation. Importantly, the STR mutation rate was underestimated due to ignoring the “hidden” mutation phenomenon in most similar studies. Considering this, we use Slooten and Ricciardi’s restricted mutation model based on big data to obtain more accurate mutation rates for each marker. In this paper, the mutations of 20 autosomal STRs loci (D3S1358, D1S1656, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D6S1043, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, and FGA; The restricted model does not include the correction factor of D6S1043, this paper calculates remaining 19 STR loci mutation rates) were investigated in 28,313 (Total: 78,739 individuals) confirmed parentage-testing cases in Chinese Han population. As a result, total 1665 mutations were found in all loci, including 1614 one-steps, 34 two-steps, 8 three-steps, and 9 nonintegral mutations. The loci-specific average mutation rates ranged from 0.00007700 (TPOX) to 0.00459050 (FGA) in trio’s and 0.00000000 (TPOX) to 0.00344850 (FGA) in duo’s. We analyzed the relationship between mutation rates of the apparent and actual, the trio’s and duo’s, the paternal and maternal, respectively. The results demonstrated that the actual mutation rates are more than the apparent mostly, and the values of μ1”/μ2”(apparent) are also greater than μ1/μ2 (actual) commonly (μ1”, μ1; μ2”, μ2 are the mutation rates of one-step and two-step). Therefore, the “hidden” mutations are identified. In addition, the mutations rates of trio’s and duo’s, the paternal and maternal, exhibit significant difference. Next, those mutation data are used to do a comparison with the studies of other Han populations in China, which present the temporal and regional disparities. Due to the large sample size, some rare mutation events, such as monozygotic (MZ) mutation and “fake four-step mutation”, are also reported in this study. In conclusion, the estimation values of actual mutations are obtained based on big data, they can not only provide basic data for the Chinese forensic DNA and population genetics databases, but also have important significance for the development of forensic individual identification, paternity testing and genetics research.

Key words: autosomal STR, restricted mutation model, parentage testing, Chinese Han population, mutational analysis

刘志勇, 任贺, 陈冲, 张京晶, 张晓梦, 石妍, 石林玉, 陈滢, 程凤, 贾莉, 陈曼, 范庆炜, 张家榕, 李万婷, 王萌春, 任子林, 刘雅诚, 倪铭, 孙宏钰, 严江伟. 基于有限突变模型和大规模数据的19个常染色体STR的实际突变率研究[J]. 遗传, 2021, 43(10): 949-961.

Zhiyong Liu, He Ren, Chong Chen, Jingjing Zhang, Xiaomeng Zhang, Yan Shi, Linyu Shi, Ying Chen, Feng Cheng, Li Jia, Man Chen, Qingwei Fan, Jiarong Zhang, Wanting Li, Mengchun Wang, Zilin Ren, Yacheng Liu, Ming Ni, Hongyu Sun, Jiangwei Yan. Actual mutational research of 19 autosomal STRs based on restricted mutation model and big data[J]. Hereditas(Beijing), 2021, 43(10): 949-961.

图/表 22

表1

图1

图2

图3

图4

图5

图6

图7

图8

图9

表1附

表2附

表3附

表4A附

同一个孩子观察到2个突变事件的27例案件"

案例	试剂盒	父亲年龄	母亲年龄	孩子性别	突变基因座	孩子分型	父亲分型	母亲分型	突变来源	突变步数
案例1	AB-Identifiler	24	22	女	D3S1358	15	15,16	16	母亲	-1
案例1	AB-Identifiler	24	22	女	D19S433	12,14.2	13,14	14,14.2	父亲	-1
案例2	Goldeneye 20A	25	22	女	D18S51	16	13,15	13,16	父亲	+1
案例2	Goldeneye 20A	25	22	女	D12S391	18,21	18,20	18,20	未知	+1
案例3	Goldeneye 20A	31	29	男	D7S820	9, 12	11	9, 10	父亲	+1
案例3	Goldeneye 20A	31	29	男	CSF1PO	12, 13	10, 13	13	父亲	-1
案例4	Goldeneye 20A	26	27	男	CSF1PO	13,14	12,14	9,14	未知	±1
案例4	Goldeneye 20A	26	27	男	FGA	22,24	23,26	24,24.2	父亲	-1
案例5	Goldeneye 20A	55	25	女	D3S1358	16,18	16,17	15,16	父亲	+1
案例5	Goldeneye 20A	55	25	女	D12S391	19,20	18,21	19	父亲	-1
案例6	Goldeneye 20A	26	22	女	D6S1043	12	11,13	12,13	父亲	±1
案例6	Goldeneye 20A	26	22	女	D8S1179	14	14,15	13,15	母亲	±1
案例7	Goldeneye 20A	37	38	女	D12S391	20,23	21	18,23	父亲	-1
案例7	Goldeneye 20A	37	38	女	FGA	22,23	22,24	22,25	父亲	±1
案例8	Goldeneye 20A	24	19	男	D5S818	11,14	10,14	10,12	母亲	±1
案例8	Goldeneye 20A	24	19	男	D6S1043	14,17	13,19	17,18	父亲	+1
案例9	PowerPlex®21	30	27	女	D21S11	30,31	31,31.2	31,33	未知	-1
案例9	PowerPlex®21	30	27	女	D2S1338	23,24	18,24	19,24	未知	-1
案例10	PowerPlex®21	35	23	女	D21S11	30,32.2	29	31.2,32.2	父亲	+1
案例10	PowerPlex®21	35	23	女	D12S391	18,22	20,21	18,19	父亲	+1
案例11	PowerPlex®21	40	34	男	vWA	17,18	19	14,17	父亲	-1
案例11	PowerPlex®21	40	34	男	FGA	22,24	21,23	21,24	父亲	±1
案例12	PowerPlex®21	33	NA	女	penta E	10,22	16,23	NA	父亲	-1
案例12	PowerPlex®21	33	NA	女	D5S818	13	11,12	NA	父亲	+1
案例13	PowerPlex®21	29	25	女	D8S1179	12	11,13	12,13	父亲	±1
案例13	PowerPlex®21	29	25	女	FGA	23,24	22.2,25	20,23	父亲	-1
案例14	PowerPlex®21	37	28	女	D18S51	13,21	13,15	19,22	母亲	-1
案例14	PowerPlex®21	37	28	女	vWA	18	16,19	18	父亲	-1
案例15	PowerPlex®21	39	NA	女	Penta E	16,17	10,18	NA	父亲	-1
案例15	PowerPlex®21	39	NA	女	D18S51	14,19	18,20	NA	父亲	±1
案例16	PowerPlex®21	24	25	女	D13S317	9,11	8,10	9,10	父亲	+1
案例16	PowerPlex®21	24	25	女	Penta E	12,15	13,16	16	母亲	+1
案例17	PowerPlex®21	30	32	男	D18S51	14	14	13,17	母亲	+1
案例17	PowerPlex®21	30	32	男	FGA	23,25	21,23	18,22	父亲	-1
案例18	PowerPlex®21	24	21	女	TPOX	8,11	8,10	8	父亲	+1
案例18	PowerPlex®21	24	21	女	D8S1179	13,15	15,17	15,18	父亲	-2
案例19	PowerPlex®21	28	28	女	D6S1043	14,17	17	13,18	母亲	+1
案例19	PowerPlex®21	28	28	女	D16S539	11,14	10,11	9,12	父亲	+1
案例20	PowerPlex®21	37	33	男	Penta E	11,27	13,26	11,20	父亲	+1
案例20	PowerPlex®21	37	33	男	Penta D	10	9	10,13	父亲	+1
案例21	PowerPlex®21	28	25	女	D13S317	10,12	10,11	8,10	父亲	+1
案例21	PowerPlex®21	28	25	女	D21S11	30,31	30,31	29,32	母亲	+1
案例22	PowerPlex®21	26	23	女	D1S1656	10,15	15	11	母亲	-1
案例22	PowerPlex®21	26	23	女	D13S317	18,26	19,27	18,19	父亲	-1
案例23	PowerPlex®21	39	28	女	D16S539	10,12	9,13	12	父亲	+1
案例23	PowerPlex®21	39	28	女	D21S11	30.2,31.2	28,30.2	29,32.2	母亲	-1
案例24	PowerPlex®21	45	41	女	D16S539	11	9,12	11,12	父亲	-1
案例24	PowerPlex®21	45	41	女	D8S1179	13,18	13,17	12,13	父亲	+1
案例25	PowerPlex®21	28	29	女	Penta D	11,14	8,9	12,14	父亲	+2
案例25	PowerPlex®21	28	29	女	D21S11	30,31.2	29,30	30	未知	+1.2
案例26	PowerPlex®21	30	28	女	D13S317	9	9	8	母亲	+1
案例26	PowerPlex®21	30	28	女	D5S818	12,14	10,13	9,12	父亲	+1
案例27	PowerPlex®21	40	33	男	D1S1656	14,16	15,17.3	12,14	父亲	+1
案例27	PowerPlex®21	40	33	男	D13S317	8,13	9,12	8,12	父亲	+1

表4A附

表4B附

表5A附

三联体组的表面突变率"

基因座	Fμ”	Fμ1”	Fμ2”	Fμ3”	Mμ”	Mμ1”	Mμ2”	Mμ3”
CSF1PO	0.00327861	0.00327861	0.00000000	0.00000000	0.00065572	0.00065572	0.00000000	0.00000000
D12S391	0.00600623	0.00590896	0.00009727	0.00000000	0.00167785	0.00167785	0.00000000	0.00000000
D13S317	0.00158278	0.00153756	0.00004522	0.00000000	0.00072356	0.00067833	0.00000000	0.00004522
D16S539	0.00194456	0.00194456	0.00000000	0.00000000	0.00058789	0.00054267	0.00004522	0.00000000
D18S51	0.00456745	0.00443178	0.00009044	0.00004522	0.00122100	0.00117578	0.00004522	0.00000000
D19S433	0.00174106	0.00169584	0.00004522	0.00000000	0.00097228	0.00092706	0.00000000	0.00004522
D1S1656	0.00240665	0.00226079	0.00014586	0.00000000	0.00109393	0.00109393	0.00000000	0.00000000
D21S11	0.00214806	0.00214806	0.00000000	0.00000000	0.00201239	0.00192195	0.00009044	0.00000000
D2S1338	0.00246461	0.00246461	0.00000000	0.00000000	0.00042961	0.00042961	0.00000000	0.00000000
D3S1358	0.00160539	0.00160539	0.00000000	0.00000000	0.00056528	0.00056528	0.00000000	0.00000000
D5S818	0.00198978	0.00194456	0.00004522	0.00000000	0.00067833	0.00063311	0.00004522	0.00000000
D7S820	0.00260028	0.00260028	0.00000000	0.00000000	0.00040700	0.00040700	0.00000000	0.00000000
D8S1179	0.00359517	0.00359517	0.00000000	0.00000000	0.00065572	0.00065572	0.00000000	0.00000000
FGA	0.00653462	0.00626328	0.00018089	0.00009044	0.00128883	0.00119839	0.00004522	0.00004522
Penta D	0.00153195	0.00133742	0.00014590	0.00004863	0.00041338	0.00036475	0.00004863	0.00000000
Penta E	0.00471744	0.00449859	0.00021885	0.00000000	0.00218850	0.00206692	0.00007295	0.00004863
TH01	0.00022611	0.00018089	0.00004522	0.00000000	0.00009044	0.00009044	0.00000000	0.00000000
TPOX	0.00006783	0.00006783	0.00000000	0.00000000	0.00006783	0.00006783	0.00000000	0.00000000
vWA	0.00474834	0.00470312	0.00004522	0.00000000	0.00085922	0.00085922	0.00000000	0.00000000

表5A附

表5B附

三联体组的实际突变率"

基因座	Fμ	Fμ1	Fμ2	Fμ3	Mμ	Mμ1	Mμ2	Mμ3
CSF1PO	0.00449100	0.00449100	0.00000000	0.00000000	0.00089800	0.00089800	0.00000000	0.00000000
D12S391	0.00674500	0.00660400	0.00014100	0.00000000	0.00188500	0.00188500	0.00000000	0.00000000
D13S317	0.00197200	0.00189100	0.00008100	0.00000000	0.00089900	0.00083200	-0.00004300	0.00011000
D16S539	0.00246100	0.00246100	0.00000000	0.00000000	0.00073900	0.00066000	0.00007900	0.00000000
D18S51	0.00524900	0.00504600	0.00011900	0.00008400	0.00140400	0.00133400	0.00007000	0.00000000
D19S433	0.00222300	0.00215200	0.00007100	0.00000000	0.00123300	0.00118200	-0.00002400	0.00007500
D1S1656	0.00264300	0.00245100	0.00019200	0.00000000	0.00120200	0.00120200	0.00000000	0.00000000
D21S11	0.00255700	0.00255700	0.00000000	0.00000000	0.00201239	0.00192195	0.00009044	0.00000000
D2S1338	0.00273800	0.00273800	0.00000000	0.00000000	0.00047700	0.00047700	0.00000000	0.00000000
D3S1358	0.00160539	0.00160539	0.00000000	0.00000000	0.00073400	0.00073400	0.00000000	0.00000000
D5S818	0.00274700	0.00266900	0.00007800	0.00000000	0.00092600	0.00084800	0.00007800	0.00000000
D7S820	0.00325000	0.00325000	0.00000000	0.00000000	0.00050900	0.00050900	0.00000000	0.00000000
D8S1179	0.00443800	0.00443800	0.00000000	0.00000000	0.00081000	0.00081000	0.00000000	0.00000000
FGA	0.00767100	0.00725200	0.00023800	0.00018100	0.00151000	0.00137300	0.00004700	0.00009000
Penta D	0.00182500	0.00152100	0.00021400	0.00009000	0.00049400	0.00041400	0.00008000	0.00000000
Penta E	0.00513100	0.00484700	0.00028400	0.00000000	0.00237900	0.00222200	0.00007700	0.00008000
TH01	0.00022611	0.00018089	0.00004522	0.00000000	0.00010000	0.00010000	0.00000000	0.00000000
TPOX	0.00007700	0.00007700	0.00000000	0.00000000	0.00007700	0.00007700	0.00000000	0.00000000
vWA	0.00600600	0.00592500	0.00008100	0.00000000	0.00108800	0.00108800	0.00000000	0.00000000

表5B附

表6A附

二联体组表面突变率"

基因座	Fμ”	Fμ1”	Fμ2”	Mμ”	Mμ1”
CSF1PO	0.00170794	0.00170794	0.00000000	0.00051840	0.00051840
D12S391	0.00388916	0.00388916	0.00000000	0.00000000	0.00000000
D13S317	0.00170794	0.00170794	0.00000000	0.00051840	0.00051840
D16S539	0.00085397	0.00085397	0.00000000	0.00025920	0.00025920
D18S51	0.00213493	0.00213493	0.00000000	0.00051840	0.00051840
D19S433	0.00085397	0.00085397	0.00000000	0.00051840	0.00051840
D1S1656	0.00146951	0.00146951	0.00000000	0.00000000	0.00000000
D21S11	0.00128096	0.00128096	0.00000000	0.00077760	0.00077760
D2S1338	0.00085397	0.00085397	0.00000000	0.00000000	0.00000000
D3S1358	0.00085397	0.00042699	0.00042699	0.00051840	0.00051840
D5S818	0.00256191	0.00256191	0.00000000	0.00025920	0.00025920
D7S820	0.00085397	0.00085397	0.00000000	0.00025920	0.00025920
D8S1179	0.00213493	0.00213493	0.00000000	0.00000000	0.00000000
FGA	0.00384287	0.00384287	0.00000000	0.00077760	0.00077760
Penta D	0.00145843	0.00145843	0.00000000	0.00029360	0.00029360
Penta E	0.00388916	0.00388916	0.00000000	0.00117440	0.00117440
TH01	0.00042699	0.00042699	0.00000000	0.00025920	0.00025920
TPOX	0.00000000	0.00000000	0.00000000	0.00000000	0.00000000
vWA	0.00042699	0.00042699	0.00000000	0.00051840	0.00051840

表6A附

表6B附

二联体组的实际突变率"

基因座	Fμ	Fμ1	Fμ2	Mμ	Mμ1
CSF1PO	0.00379500	0.00379500	0.00000000	0.00115200	0.00115200
D12S391	0.00532800	0.00532800	0.00000000	0.00000000	0.00000000
D13S317	0.00310500	0.00310500	0.00000000	0.00094300	0.00094300
D16S539	0.00164200	0.00164200	0.00000000	0.00049800	0.00049800
D18S51	0.00309400	0.00309400	0.00000000	0.00075100	0.00075100
D19S433	0.00158100	0.00158100	0.00000000	0.00096000	0.00096000
D1S1656	0.00195900	0.00195900	0.00000000	0.00000000	0.00000000
D21S11	0.00203300	0.00203300	0.00000000	0.00123400	0.00123400
D2S1338	0.00120300	0.00120300	0.00000000	0.00000000	0.00000000
D3S1358	0.00149600	-0.00155400	0.00305000	0.00097800	0.00097800
D5S818	0.00610000	0.00610000	0.00000000	0.00061700	0.00061700
D7S820	0.00149800	0.00149800	0.00000000	0.00045500	0.00045500
D8S1179	0.00368100	0.00368100	0.00000000	0.00000000	0.00000000
FGA	0.00573600	0.00573600	0.00000000	0.00116100	0.00116100
Penta D	0.00243100	0.00243100	0.00000000	0.00048900	0.00048900
Penta E	0.00525600	0.00525600	0.00000000	0.00158700	0.00158700
TH01	0.00077600	0.00077600	0.00000000	0.00047100	0.00047100
TPOX	0.00000000	0.00000000	0.00000000	0.00000000	0.00000000
vWA	0.00074900	0.00074900	0.00000000	0.00090900	0.00090900

表6B附

表7附

表8附

表9附

中国其他省或区汉族人群的突变率汇总"

基因座	本次研究	Yan等研究^[1]	华北汉族^[2]	华东汉族^[2]	华南汉族^[3]	河南汉族^[4]	上海汉族^[5]	贵州汉族^[6]	河北汉族^[7]	云南汉族^[8]	福建汉族^[9]	广东汉族^[9]
基因座	n=78739	n=19754	n=16612	n=4494	n=6303	n=2475	n=12413	n=3879	n=5006	n=10941	n=3279	n=4094
CSF1PO	0.0027	0.0011	0.0014	0.0008	0.0005	0.0024	0.0026	0.0004	0.0010	0.0009	0.0008	0.0014
D12S391	0.0043	-	0.0029	0.0000	0.0028	0.0012	0.0017	0.0013	0.0024	0.0027	0.0021	0.0037
D13S317	0.0014	0.0006	0.0007	0.0008	0.0010	0.0000	0.0017	0.0009	0.0007	0.0003	0.0000	0.0017
D16S539	0.0016	0.0006	0.0007	0.0000	0.0003	0.0018	0.0006	0.0009	0.0007	0.0005	0.0004	0.0017
D18S51	0.0033	0.0006	0.0022	0.0017	0.0008	0.0018	0.0029	0.0009	0.0010	0.0015	0.0017	0.0017
D19S433	0.0017	0.0004	0.0004	0.0017	0.0008	0.0000	0.0009	0.0004	0.0003	0.0014	0.0000	0.0010
D1S1656	0.0019	-	-	-	0.0000	0.0012	-	0.0013	-	0.0008	0.0000	0.0003
D21S11	0.0023	0.0021	0.0007	0.0004	0.0018	0.0030	0.0020	0.0009	0.0007	0.0021	0.0012	0.0010
D2S1338	0.0016	0.0004	0.0017	0.0004	0.0005	0.0000	0.0011	0.0004	0.0007	0.0009	0.0008	0.0014
D3S1358	0.0012	0.0005	0.0012	0.0004	0.0005	0.0006	0.0015	0.0018	0.0003	0.0009	0.0000	0.0027
D5S818	0.0018	0.0006	0.0010	0.0008	0.0008	0.0000	0.0011	0.0009	0.0007	0.0012	0.0004	0.0003
D7S820	0.0019	0.0008	0.0014	0.0000	0.0005	0.0006	0.0003	0.0004	0.0003	0.0006	0.0004	0.0020
D8S1179	0.0026	0.0010	0.0017	0.0012	0.0013	0.0006	0.0029	0.0004	0.0014	0.0014	0.0008	0.0027
FGA	0.0046	0.0022	0.0024	0.0046	0.0028	0.0049	0.0046	0.0013	0.0031	0.0024	0.0025	0.0027
Penta D	0.0012	0.0009	0.0002	0.0008	0.0010	0.0006	0.0006	0.0004	0.0007	0.0006	0.0004	0.0007
Penta E	0.0038	0.0009	0.0032	0.0012	0.0021	0.0000	0.0032	0.0018	0.0014	0.0020	0.0025	0.0020
TH01	0.0002	0.0002	0.0000	0.0000	0.0000	0.0006	0.0002	-	0.0000	0.0005	0.0000	0.0003
TPOX	0.0001	0.0001	0.0002	0.0000	0.0000	0.0000	0.0003	-	0.0000	0.0003	0.0004	0.0003
vWA	0.0035	0.0016	0.0018	0.0004	0.0018	0.0030	0.0015	0.0027	0.0010	0.0027	0.0021	0.0027
Total	0.0013	-	0.0013	0.0008	-	-	0.0016	-	0.0163	0.0012	0.0008	0.0014

表9附

参考文献 9

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[6]	Li HX, Peng D, Wang Y, Wu RG, Zhang YM, Li R, Sun HY . Evaluation of genetic parameters of 23 autosomal STR loci in a southern Chinese Han population. Ann Hum Biol, 2018,45(4):359-364.
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[8]	Qu N, Zhang XC, Liang H, Ou XL . Analysis of genetic polymorphisms and mutations at 23 autosomal STR loci in Guangdong Han population. Forensic Sci Int Genet, 2019,38:e16-e17.
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[19]	Valdes AM, Slatkin M, Freimer NB . Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics, 1993,133(3):737-749.
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[21]	Lan Q, Wang HD, Shen CM, Guo YX, Yin CY, Xie T, Fang YT, Zhou YS, Zhu BF . Mutability analysis towards 21 STR loci included in the AGCU 21+1 kit in Chinese Han population. Int J Legal Med, 2018,132(5):1287-1291.
[22]	Ge JY, Budowle B, Aranda XG, Planz JV, Eisenberg AJ, Chakraborty R . Mutation rates at Y chromosome short tandem repeats in Texas populations, Forensic Sci Int Genet, 2009,3(3):179-184.
[23]	Xu W, Wang YQ, Zhang DD, Wang DX, Zhou L, Ye XL, Zhu CG, Shi YZ . Mutation analysis of 21 autosomal short tandem repeats in Han population from Hunan, China. Ann Hum Biol. 2019,46(3):254-260.
[24]	Dupuy BM, Stenersen M, Egeland T, Olaisen B . Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci, Hum Mutat, 2004,23(2):117-124.
[25]	Xie BB, Chen L, Yang YR, Lv YX, Chen J, Shi Y, Chen C, Zhao HY, Yu ZL, Liu YC, Fang XD, Yan JW . Genetic distribution of 39 STR loci in 1027 unrelated Han individuals from northern China. Forensic Sci Int Genet, 2015,19:205-206.
[26]	Chakraborty R, Stivers DN, Zhong YX . Estimation of mutation rates from parentage exclusion data: applications to STR and VNTR loci. Mutat Res, 1996,354(1):41-48.
[27]	Vicard P, Dawid AP . A statistical treatment of biases affecting the estimation of mutation rates. Mutat Res, 2004,547(1-2):19-33.
[28]	Yan JW, Liu YC, Tang H, Zhang QX, Huo ZY, Hu SN, Yu J . Mutations at 17 STR loci in Chinese population. Forensic Sci Int, 2006,162(1-3):53-54.
[29]	Lu DJ, Liu QL, Wu WW, Zhao H . Mutation analysis of 24 short tandem repeats in Chinese Han population. Int J Legal Med, 2012,126(2):331-335.
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[附录]	附录涉及的参考文献(References):
[1]	Yan JW, Liu YC, Tang H, Zhang QX, Huo ZY, Hu SN, Yu J . Mutations at 17 STR loci in Chinese population. Forensic Sci Int, 2006,162(1-3):53-54.
[2]	Qian XQ, Yin CY, Ji Q, Li K, Fan HT, Yu YF, Bu FL, Hu LL, Wang JW, Mu HF . Mutation rate analysis at 19 autosomal microsatellites. Electrophoresis, 2015,36(14):1633-1639.
[3]	Li HX, Peng D, Wang Y, Wu RG, Zhang YM, Li R, Sun HY . Evaluation of genetic parameters of 23 autosomal STR loci in a Southern Chinese Han population, Ann Hum Biol, 2018,45(4):359-364.
[4]	Wang. HD, Kang B, Su N, He M, Zhang B, Guo YX, Zhu BF, Liao. SX, Zeng ZS. Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population. Int J Legal Med, 2016,131(1):103-105.
[5]	Shao CC, Lin MX, Zhou ZH, Zhou YQ, Shen YW, Xue AM, Zhou HG, Tang QQ, Xie JH . Mutation analysis of 19 autosomal short tandem repeats in Chinese Han population from Shanghai. Int J Legal Med, 2016,130(6):1439-1444.
[6]	Yang MQ, Ren Z, Ji JY, Zhou H, Zhang HL, Dai JL, Wang J, Huang J . Population genetic data and mutations of 22 autosomal STR loci in Guizhou Han population. Forensic Sci Int Genet, 2017,29:e29-e30.
[7]	Sun LJ, Shi K, Tan L, Zhang Q, Fu LH, Zhang XJ, Fu GP, Li SJ, Cong B . Analysis of genetic polymorphisms and mutations at 19 STR loci in Hebei Han population. Forensic Sci Int Genet, 2017,31:e50-e51.
[8]	Zhang XF, Liu LL, Xie RF, Wang GY, Shi Y, Gu T, Hu LP, Nie SJ . Population data and mutation rates of 20 autosomal STR loci in a Chinese Han population from Yunnan Province, Southwest China. Int J Legal Med, 2018,132(4):1083-1085.
[9]	Qu N, Zhang XC, Liang H, XL Ou . Analysis of genetic polymorphisms and mutations at 23 autosomal STR loci in Guangdong Han population. Forensic Sci Int Genet, 2019,38:e16-e17.

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基因座	孩子	父亲	母亲	突变来源	突变步数	F1”	F2”	F3”	M1”	M2”	M3”
基因座	基因型			突变来源	突变步数	F1”	F2”	F3”	M1”	M2”	M3”
TH01	8, 9	9	9	父亲	1	0.5	0	0	0.5	0	0
TH01	8, 9	9	9	母亲	1	0.5	0	0	0.5	0	0
TH01	8,9	9	9	父亲	1	0.5	0	0	0.5	0	0
TH01	8,9	9	9	母亲	1	0.5	0	0	0.5	0	0
TH01	9	8	6, 9	父亲	1	1	0	0	0	0	0
TH01	6, 11	9, 10	6, 9	父亲	1	1	0	0	0	0	0
TH01	9	7	9	父亲	2	0	1	0	0	0	0
TH01	8	6,9	8, 9	父亲	1	1	0	0	0	0	0
TH01	7, 10	7	9	母亲	1	0	0	0	1	0	0
总计(n)	-					4	1	0	2	0	0
突变”	-					0.000181	0.000045	0	0.00009	0	0

基因座	基因型			突变来源	可能的突变步数
基因座	孩子	父亲	母亲	突变来源	可能的突变步数
D19S433	13	14.2	13, 15.2	父亲	-1.2
D19S433	13, 16	15, 16.2	13, 14		-0.2
D19S433	13	15.2	-		-2.2
D1S1656	16	16.3, 17	15, 16		-0.3
D6S1043	17, 23.3	18, 24	11, 17		-0.1
D21S11	30, 32	29, 30.2	32, 32.2		-0.2
TH01	9	6, 9	9.3	母亲	-0.3
D21S11	30, 31.2	29, 30	30	未知	+1.2
D12S391	19.3, 20	19, 20	20, 21	未知	+0.3/-0.1

基于有限突变模型和大规模数据的19个常染色体STR的实际突变率研究

Actual mutational research of 19 autosomal STRs based on restricted mutation model and big data

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基因座	三联体			二联体
基因座	Fμ	Mμ	平均μ	Fμ	Mμ	平均μ
CSF1PO	0.00449100	0.00089800	0.00269450	0.00379500	0.00115200	0.00247350
D12S391	0.00674500	0.00188500	0.00431500	0.00532800	0.00000000	0.00266400
D13S317	0.00197200	0.00089900	0.00143550	0.00310500	0.00094300	0.00202400
D16S539	0.00246100	0.00073900	0.00160000	0.00164200	0.00049800	0.00107000
D18S51	0.00524900	0.00140400	0.00332650	0.00309400	0.00075100	0.00192250
D19S433	0.00222300	0.00123300	0.00172800	0.00158100	0.00096000	0.00127050
D1S1656	0.00264300	0.00120200	0.00192250	0.00195900	0.00000000	0.00097950
D21S11	0.00255700	0.00201239	0.00228470	0.00203300	0.00123400	0.00163350
D2S1338	0.00273800	0.00047700	0.00160750	0.00120300	0.00000000	0.00060150
D3S1358	0.00160539	0.00073400	0.00116970	0.00149600	0.00097800	0.00123700
D5S818	0.00274700	0.00092600	0.00183650	0.00610000	0.00061700	0.00335850
D7S820	0.00325000	0.00050900	0.00187950	0.00149800	0.00045500	0.00097650
D8S1179	0.00443800	0.00081000	0.00262400	0.00368100	0.00000000	0.00184050
FGA	0.00767100	0.00151000	0.00459050	0.00573600	0.00116100	0.00344850
Penta D	0.00182500	0.00049400	0.00115950	0.00243100	0.00048900	0.00146000
Penta E	0.00513100	0.00237900	0.00375500	0.00525600	0.00158700	0.00342150
TH01	0.00022611	0.00010000	0.00016306	0.00077600	0.00047100	0.00062350
TPOX	0.00007700	0.00007700	0.00007700	0.00000000	0.00000000	0.00000000
vWA	0.00600600	0.00108800	0.00354700	0.00074900	0.00090900	0.00082900
Total	0.06405550	0.01937639	0.04171595	0.05146300	0.01220500	0.03183400

基因座	三联体突变数				三联体案例数	二联体突变数			二联体案例数
基因座	父源	母源	父源或母源	总计	三联体案例数	父源	母源	总计	父亲孩子二联体	母亲孩子二联体
CSF1PO	65	7	15	87	22,113	4	2	6	2342	3858
D12S391	113	24	21	158	20,562	8	0	8	2057	3406
D13S317	30	11	10	51	22,113	4	2	6	2342	3858
D16S539	38	8	10	56	22,113	2	1	3	2342	3858
D18S51	96	22	10	128	22,113	5	2	7	2342	3858
D19S433	36	19	5	60	22,113	2	2	4	2342	3858
D1S1656	29	11	8	48	13,712	2	0	2	1361	2149
D21S11	44	41	7	92	22,113	3	3	6	2342	3858
D2S1338	50	5	9	64	22,113	2	0	2	2342	3858
D3S1358	29	6	13	48	22,113	2	2	4	2342	3858
D6S1043	54	8	5	67	20,562	0	2	2	2057	3406
D5S818	40	11	8	59	22,113	6	1	7	2342	3858
D7S820	51	3	13	67	22,113	2	1	3	2342	3858
D8S1179	75	10	9	94	22,113	5	0	5	2342	3858
FGA	135	18	19	172	22,113	9	3	12	2342	3858
Penta D	30	7	3	40	20,562	3	1	4	2057	3406
Penta E	92	40	10	142	20,562	8	4	12	2057	3406
TH01	4	1	2	7	22,113	1	1	2	2342	3858
TPOX	1	1	1	3	22,113	0	0	0	2342	3858
vWA	97	11	16	124	22,113	1	2	3	2342	3858
Total	1109	264	194	1567	22,113	69	29	98	2342	3858

案例	孩子	试剂盒	父亲年龄	母亲年龄	孩子性别	突变基因座	孩子分型	父亲分型	母亲分型	突变来源	突变步数
案例1	MZ1	AB-Identifiler, AGCU21+1	30	30	男	FGA	22,24	21,23	22,24	未知	±1
案例1	MZ2	AB-Identifiler, AGCU21+1	30	30	男	FGA	22,24	21,23	22,24	未知	±1
案例2	MZ1	Goldeneye 20A, AGCU21+1	33	28	男	D6S1043	13, 20	13, 18	18, 21	母亲	-1
案例2	MZ2	Goldeneye 20A, AGCU21+1	33	28	男	D6S1043	13, 20	13, 18	18, 21	母亲	-1
案例3	MZ1	Goldeneye 20A	21	23	女	Penta E	15,25	17,24	12,15	父亲	+1
案例3	MZ2	Goldeneye 20A	21	23	女	Penta E	15,25	17,24	12,15	父亲	+1
案例4	MZ1	Goldeneye 20A	26	24	男	D18S51	12,16	14,15	12,15	父亲	+1
案例4	MZ2	Goldeneye 20A	26	24	男	D18S51	12,16	14,15	12,15	父亲	+1
案例5	MZ1	Goldeneye 20A, AGCU21+1	40	39	女	D21S11	30,33.2	31,32.2	30,31.2	父亲	+1
案例5	MZ2	Goldeneye 20A, AGCU21+1	40	39	女	D21S11	30,33.2	31,32.2	30,31.2	父亲	+1
案例6	MZ1	Goldeneye 20A	44	40	男	D6S1043	18,21.3	12,22.3	11,18	父亲	-1
案例6	MZ2	Goldeneye 20A	44	40	男	D6S1043	18,21.3	12,22.3	11,18	父亲	-1
案例7	MZ1	PowerPlex®21	32	31	女	Penta E	16,17	16	16,18	未知	±1
案例7	MZ2	PowerPlex®21	32	31	女	Penta E	16,17	16	16,18	未知	±1
案例8	MZ1	PowerPlex®21	42	24	男	D12S391	17,22	18,22	18,19	母亲	-1
案例8	MZ2	PowerPlex®21	42	24	男	D12S391	17,22	18,22	18,19	母亲	-1
案例9	MZ1	PowerPlex®21	38	32	男	CSF1PO	12,14	10,13	12	父亲	+1
案例9	MZ2	PowerPlex®21	38	32	男	CSF1PO	12,14	10,13	12	父亲	+1
案例10	MZ1	PowerPlex®21	31	31	男	D18S51	15,17	14,16	14,15	父亲	+1
案例10	MZ2	PowerPlex®21	31	31	男	D18S51	15,17	14,16	14,15	父亲	+1

案例	试剂盒	父亲年龄	母亲年龄	孩子性别	突变基因座	孩子分型	父亲分型	母亲分型	突变来源	突变步数
案例1	Goldeneye 20A, MicroreaderTM23sp ID Sysrem	47	39	男	D8S1179	12,14	13	14	父亲	-1
					D17S1290	15,19	15,20	15,18	未知	±1
					FGA	22,23	24	22,24	父亲	-1
案例2	PowerPlex®21, MicroreaderTM23sp ID Sysrem	39	26	男	D6S1043	12,17	17,20	13,14	母亲	-1
					D8S1132	18,21	18,19	22	母亲	-1
					FGA	19,24	20,25	19,25	父亲	-1
案例3	PowerPlex®21, MicroreaderTM23sp ID Sysrem	34	33	男	D2S1338	19,21	19	19,20	母亲	+1
					D10S1435	13	13	12,14	母亲	±1
					FGA	21,25	22,24	21,23	父亲	+1

基因座	较短组 Short group					中等组 Medium group					较长组 Long group					未确定分组 Undeterminable group	Total
基因座	AR	NG	NL	NU	UM	AR	NG	NL	NU	UM	AR	NG	NL	NU	UM	未确定分组 Undeterminable group	Total
CSF1PO	?7-9.1	1	0	0	1	?9.2-11.1	6	4	0	10	?12-15	31	28	3	62	20	93
D12S391	?14-18.3	8	11	1	20	?19-23	36	64	8	108	?24-28	8	7	0	15	23	166
D13S317	?5-7	0	0	0	0	?8-12	22	11	2	35	?13-15	5	12	0	17	5	57
D16S539	?6-8	0	0	0	0	?9-12	21	10	4	35	?13-16	6	11	1	18	6	59
D18S51	?10-13	9	0	0	9	?13.2-20	54	32	5	91	?21-25	15	18	0	33	2	135
D19S433	?9-11.2	2	0	0	2	?12-16	24	25	2	51	?16.2-18.2	3	8	0	11	0	64
D1S1656	?10-12	0	1	0	1	?13-17.3	20	20	2	42	?18-19.3	1	4	0	5	2	50
D21S11	?27-29	8	7	0	15	?29.2-33.1	26	31	3	60	?33.2-35.2	2	12	0	14	9	98
D2S1338	?16-19.2	5	1	0	6	?19.3-23.3	21	7	0	28	?24-26	9	19	1	29	3	66
D3S1358	?12-13	0	0	0	0	?14-18	21	22	9	52	?19-20	0	0	0	0	0	52
D6S1043	?9-12	2	0	0	2	?12.2-18	13	15	4	32	?18.2-22.3	13	19	2	34	1	69
D5S818	?7-9	0	0	0	0	?9.2-13	27	16	13	56	?13.2-15	2	8	0	10	0	66
D7S820	?7-9	2	1	1	4	?9.1-11	5	8	2	15	?11.1-14	12	19	3	34	17	70
D8S1179	?8-10	4	0	0	4	?11-15	34	19	11	64	?16-18	7	22	1	30	1	99
FGA	13-18.2	1	1	0	2	19-24.2	51	53	18	122	25-28	15	29	3	47	13	184
Penta E	?5-15	16	7	5	28	?16-21.3	54	37	6	97	?22-33.1	7	14	0	21	8	154
PentaD	?5-9	5	1	0	6	?10-18	18	12	5	35	?19-22	1	0	0	1	2	44
TH01	?5-7	1	0	0	1	?8-12	2	6	0	8	?13-15	0	0	0	0	0	9
TPOX	?7-8	0	1	0	1	?8.1-11.2	1	0	0	1	?12-13	0	1	0	1	0	3
vWA	?14-15	1	1	1	3	?16-19	41	40	19	100	?19.3-21	4	11	0	15	9	127
Total	-	65	32	8	105	-	497	432	113	1042	-	141	242	14	397	121	1665

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