Method for non-invasive prenatal paternity testing based on SNP calculation through high-throughput sequencing
10.13618/j.issn.1001-5728.2024.05.001
- VernacularTitle:基于高通量测序的SNP计算无创产前亲子鉴定的方法
- Author:
Shengjie GAO
1
;
Mi ZHOU
Author Information
1. 深圳大学,广东 深圳 518083
- Keywords:
Forensic genetics;
SNP;
Non-invasive prenatal paternity testing(NIPPT);
Parentage index(PI);
Power of exclusion(PE)
- From:
Chinese Journal of Forensic Medicine
2024;39(5):521-529
- CountryChina
- Language:Chinese
-
Abstract:
Objective To derive the parentage index(PI)and power of exclusion(PE)formulars for non-invasive prenatal paternity testing(NIPPT),empirically validate the PE formula,and conduct statistical analysis on the PI formula.Methods Firstly,NIPPT was divided into 6 types,including Prenatal parentage testing of Alleged Father with biological mother(PAF),prenatal parentage testing of low fetal concentration Alleged Father with biological mother(PLAF),Prenatal parentage testing of Father-Child(PFC),Prenatal parentage testing of Mother-Child(PMC),Prenatal parentage testing of Alleged Parents(PAP),Prenatal parentage testing of Alleged mother with biological father(PAM).Then the formulas of PI in 6 types of NIPPT both in accordance with genetic laws and in the presence of mutation were derived.The calculation formulas of PE were mathematically derived and applied to the system of 10 SNP loci.And for the same 10 SNP sites,PE was simulated and measured through multiple groups of operation.In principle,the PE formula should be empirically verified using the correlation method for the corresponding values of the formula and simulation.Finally,models of simulated kinship groups and unrelated individual groups were established respectively with 30 to 100 SNP loci.The geometric mean(Π)and 95%confidence interval(CI)of cumulative parentage index(CPI),the percentages of cases where CPI＞104 in kinship groups,and the percentages of cases where CPI＜10-4 in unrelated individual groups were calculated.Results The formula of PE was all in accord with the simulation experiments.The novel formulas can be used to calculate all kinds of PI in all situations.All types of NIPPT cases in kinship group and unrelated individual group can be correctly identified with 100 SNP loci.In PLAF,75.90%cases in kinship group and 100%cases in unrelated individual group can be correctly identified in 50 SNP loci.Conclusion The formula in this paper can be applied to the calculation of PI and PE of NIPPT and has forensic application value.
