Journal List > Korean J Leg Med > v.40(2) > 1087991

TOOLS
Korean J Leg Med. 2016 May;40(2):48-54. Korean.
Published online May 31, 2016.  https://doi.org/10.7580/kjlm.2016.40.2.48
© Copyright 2016 by the Korean Society for Legal Medicine
Looking Back at Our 5-Year Experience of Paternity Testing: A Summary
Moon-Young Kim,1 Sohee Cho,2 Sung Hee Lyoo,2 Ji Hyun Lee,1 Hee Jin Seo,1 Woo Kyung Ryu,3 Yaewon Jeong,4 and Soong Deok Lee1,2
1Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.
2Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Korea.
3Inha University Medical School, Incheon, Korea.
4Chonbuk University Medical School, Jeonju, Korea.

Correspondence to Soong Deok Lee. Department of Forensic Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul 03080, Korea. Tel: +82-2-740-8359, Fax: +82-2-764-8340, Email: sdlee@snu.ac.kr
* *Woo Kyung Ryu is a senior student from Inha University Medical School, and Yaewon Jeong from Chonbuk University Medical School.

Received April 29, 2016; Revised May 13, 2016; Accepted May 21, 2016.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


Abstract

We have been testing familial relationships based on short tandem repeats (STRs) in families who requested it either voluntarily or by order of the court. Here, we present a summary of our 5-year experience of autosomal STR-based paternity tests. A total of 1,431 individuals from 588 cases were tested, including 878 pairs of either of the parent, and a child. Among these 588 cases, genetic information about the other parent was available only for 135 cases. Five hundred eighteen pairs were concluded to be parent-child relations, for which the median paternity index (PI) was 72,826, and the median decimal logarithm was 4.860. Autosomal mutation was observed in nine pairs (1.74%), and the pairs harbored only one mismatched locus among the 15 standard loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA). The number of mismatched loci did not increase even after additional loci were included in the study. The observed mutation rates were D13S317 (0.193%), D18S51 (0.193%), D19S433 (0.193%), FGA (0.193%), vWA (0.386%), Penta D (0.387%), and Penta E (0.193%). There were 14 pairs with two mismatched loci, which we excluded through additional tests on either autosomal or X chromosomal STRs, and mitochondrial sequencing. Although PI is useful for determining parent-child relation, it provides indirect information; it is an interpretation of the test results that is based on probability. Additional genotyping on sex chromosome and mitochondrial DNA, or participation of other family members might be beneficial for a reliable conclusion.

Keywords: Microsatellite repeats; Paternity; Mutation rate

Figures


 Fig. 1
Distribution of decimal logarithm of paternity indices. For 518 pairs that were concluded to be parent-child relations, the median paternity index was 72,826, and median decimal logarithm was 4.860.
Click for larger image

Tables


 Table 1
Summary of the status and results of paternity test cases
Click for larger image


Table 2
Summary of the nine pairs with autosomal mutation
Click for larger image


Table 3
Mutation rate of present cases and previously reported mutation rates
Click for larger image


Table 4
Unrelated cases with two mismatched STR loci among 15 loci
Click for larger image

Notes

Conflicts of Interest:No potential conflict of interest relevant to this article was reported.

References
1. Academy of DNA Profile. Genetic forensics. Seoul: Tamgudang; 2001. pp. 107-131.
2. Gjertson DW, Brenner CH, Baur MP, et al. ISFG: Recommendations on biostatistics in paternity testing. Forensic Sci Int Genet 2007;1:223–231.
3. American Association of Blood Banks. Annual report summary for testing in 2013 [Internet]. Bethesda, MD: American Association of Blood Banks; 2014 [cited 2016 Apr 28].
Available from: http://www.aabb.org/sa/facilities/Documents/2013-relationshiptesting-summary-report.pdf.
4. Kim YL, Hwang JY, Kim YJ, et al. Allele frequencies of 15 STR loci using AmpF/STR Identifiler kit in a Korean population. Forensic Sci Int 2003;136:92–95.
5. Hong SB, Kim SH, Kim KC, et al. Korean population genetic data and concordance for the PowerPlex(R) ESX 17, AmpFlSTR Identifiler(R), and PowerPlex(R) 16 systems. Forensic Sci Int Genet 2013;7:e47–e51.
6. Jin B, Su Q, Luo H, et al. Mutational analysis of 33 autosomal short tandem repeat (STR) loci in southwest Chinese Han population based on trio parentage testing. Forensic Sci Int Genet 2016;23:86–90.
7. Butler JM. Genetics and genomics of core short tandem repeat loci used in human identity testing. J Forensic Sci 2006;51:253–265.
8. Brinkmann B, Klintschar M, Neuhuber F, et al. Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 1998;62:1408–1415.
9. Brenner CH. Mutations in paternity [Internet]. Oakland: Charles H. Brenner; 2006 [cited 2016 Apr 27].
Available from: http://dnaview.com/mudisc.htm.
10. Yang IS, Lee HY, Park SJ, et al. Analysis of kinship Index distributions in Koreans using simulated autosomal STR profiles. Korean J Leg Med 2013;37:57–65.
11. von Wurmb-Schwark N, Malyusz V, Simeoni E, et al. Possible pitfalls in motherless paternity analysis with related putative fathers. Forensic Sci Int 2006;159:92–97.
12. Thomson JA, Ayres KL, Pilotti V, et al. Analysis of disputed singleparent/child and sibling relationships using 16 STR loci. Int J Legal Med 2001;115:128–134.
13. Nothnagel M, Schmidtke J, Krawczak M. Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci. Int J Legal Med 2010;124:205–215.
14. O'Connor KL, Hill CR, Vallone PM, et al. Linkage disequilibrium analysis of D12S391 and vWA in U.S. population and paternity samples. Forensic Sci Int Genet 2011;5:538–540.
15. O'Connor KL, Tillmar AO. Effect of linkage between vWA and D12S391 in kinship analysis. Forensic Sci Int Genet 2012;6:840–844.
16. Wu W, Hao H, Liu Q, et al. Analysis of linkage and linkage disequilibrium for syntenic STRs on 12 chromosomes. Int J Legal Med 2014;128:735–739.
17. Jeong YB. In: The truth about DNA. Paju: Gimmyoung Publishers; 2008. pp. 106-112.
18. Lindner I, von Wurmb-Schwark N, Meier P, et al. Usefulness of SNPs as supplementary markers in a paternity case with 3 genetic incompatibilities at autosomal and Y chromosomal loci. Transfus Med Hemother 2014;41:117–121.
TOOLS
Similar articles

Limitation of Regular Autosomal STR Testing for Paternity within an Isolated Population

A validation study of four single locus probes (MS1, MS31, MS43 and g3) in a Korean population: further evaluation for paternity testing

Adaptation Experience to Work of Nurses with Low Back Pain

Recommendations for SARS-CoV-2 testing and organ procurement from deceased donors in the Republic of Korea

Analysis of the effect of job stress on occupational low back pain among shipyard workers using survival analysis