Identification Strategy of Biological Half Sibling Relationship

doi:10.12116/j.issn.1004-5619.2023.530107

Abstract

Abstract:

Objective To compare the application value of the likelihood ratio （LR） method and identity by state （IBS） method in the identification involving half sibling relationships， and to provide a reference for the setting of relevant standards for identification of half sibling relationship. Methods （1） Based on the same genetic marker combinations， the reliability of computer simulation method was verified by comparing the distributions of cumulated identity by state score （CIBS） and combined full sibling index in actual cases with the distributions in simulated cases. （2） In different numbers of three genetic marker combinations, the simulation of full sibling, half sibling and unrelated individual pairs, each 1 million pairs, was obtained; the CIBS, as well as the corresponding types of cumulative LR parameters， were calculated. （3） The application value of LR method was compared with that of IBS method， by comparing the best system efficiency provided by LR method and IBS method when genetic markers in different amounts and of different types and accuracy were applied to distinguish the above three relational individual pairs. （4） According to the existing simulation data， the minimum number of genetic markers required to distinguish half siblings from the other two relationships using different types of genetic markers was estimated by curve fitting. Results （1） After the rank sum test， under the premise that the real relationship and the genetic marker combination tested were the same， there was no significant difference between the simulation method and the results obtained in the actual case. （2） In most cases， under the same conditions， the system effectiveness obtained by LR method was greater than that by IBS method. （3） According to the existing data， the number of genetic markers required for full-half siblings and half sibling identification could be obtained by curve fitting when the system effectiveness reached 0.95 or 0.99. Conclusion When distinguishing half sibling from full sibling pairs or unrelated pairs， it is recommended to give preference to the LR method， and estimate the required number of markers according to the identification types and the population data， to ensure the identification effect.

Key words: forensic genetics, sibling relationship, half sibling, likelihood ratio, identity by state, short tandem repeats, single nucleotide polymorphism, microhaplotype

CLC Number:

Zheng TAN, Guan-ju MA, Li-hong FU, Xiao-jing ZHANG, Qian WANG, Guang-ping FU, Qing-qing DU, Shu-jin LI. Identification Strategy of Biological Half Sibling Relationship[J]. Journal of Forensic Medicine, 2023, 39(3): 262-270.

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URL: http://www.fyxzz.cn/EN/10.12116/j.issn.1004-5619.2023.530107

http://www.fyxzz.cn/EN/Y2023/V39/I3/262

Figures/Tables 8

Tab. 1 Notes on the calculation method of parameters

实际关系	认定为较近关系	无明确意见	认定为较远关系	合计
合计	$N 3$	$N 4$	$N 5$	$N$
实际为较近关系	$a$	$b$	$c$	$N 1$
实际为较远关系	$d$	$e$	$f$	$N 2$

Tab. 1 Notes on the calculation method of parameters

实际关系	认定为较近关系	无明确意见	认定为较远关系	合计
合计	$N 3$	$N 4$	$N 5$	$N$
实际为较近关系	$a$	$b$	$c$	$N 1$
实际为较远关系	$d$	$e$	$f$	$N 2$

Fig. 1 Comparison between result distributions based on 180 paires of real cases and two million paris of simulated cases

Tab. 2 Results of rank sum test between simulated and actual cases under different conditions

参数	STR数量/个	关系	P值
CIBS	19	全同胞对	0.979 9
		无关个体对	0.805 5
	29	全同胞对	0.494 9
		无关个体对	0.281 0
	39	全同胞对	0.259 7
		无关个体对	0.505 8
CFSI	19	全同胞对	0.247 1
		无关个体对	0.752 5
	29	全同胞对	0.684 0
		无关个体对	0.508 5
	39	全同胞对	0.948 6
		无关个体对	0.465 8

Fig. 2 Examples of CIBS and CLR results in simulations

Fig. 3 Distribution of system effectiveness based on simulated data

Tab. 3 Maximum system effectiveness obtained in two kinds of identification involving half siblings applying different combinations of loci

遗传标记	IBS法（准确度>99.99%）		LR法（固定阈值）
遗传标记	FS vs. HS	HS vs. UR	FS vs. HS	HS vs. UR
55个STR	0.555 3	0.251 8	0.526 1	0.455 5
257个SNP	0.870 7	0.150 9	0.777 0	0.429 0
191个MH	0.988 0	0.664 8	0.954 9	0.841 9

Tab. 4 Estimation of minimum amount of three types of loci in identification involving half siblings

遗传标记	鉴定目的	拟合参数			所需最小数量
遗传标记	鉴定目的	$a$	$b$	$R 2$	系统效能≥0.95	系统效能≥0.99
STR	FS-HS	-0.055 2	2.467 9	0.986 8	99	128
STR	HS-UR	-0.052 2	2.502 9	0.994 5	105	137
SNP	FS-HS	-0.017 3	2.876 9	0.987 4	339	434
SNP	HS-UR	-0.012 4	2.881 6	0.988 1	471	602
MH	FS-HS	-0.029 3	2.568 0	0.994 6	190	245
MH	HS-UR	-0.022 4	2.591 2	0.983 0	248	321

Tab. 4 Estimation of minimum amount of three types of loci in identification involving half siblings

遗传标记	鉴定目的	拟合参数			所需最小数量
遗传标记	鉴定目的	$a$	$b$	$R 2$	系统效能≥0.95	系统效能≥0.99
STR	FS-HS	-0.055 2	2.467 9	0.986 8	99	128
STR	HS-UR	-0.052 2	2.502 9	0.994 5	105	137
SNP	FS-HS	-0.017 3	2.876 9	0.987 4	339	434
SNP	HS-UR	-0.012 4	2.881 6	0.988 1	471	602
MH	FS-HS	-0.029 3	2.568 0	0.994 6	190	245
MH	HS-UR	-0.022 4	2.591 2	0.983 0	248	321

Fig. 4 The necessary number of genetic markers in two types of identification involving half siblings predicted by curve fitting

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