建立13個與核心STR連鎖之新STR基因系統以輔助親緣鑑定之研究

Establishing a System of 13 New STRs Linked with Core STR Loci for Kinship Analysis

10.6134/tjfm.2014.0601.05

尹安玓(An-Di Yim)；余玉貞(Yu-Jen Yu)；李俊億(James Chun-I Lee)

STR ； 連鎖 ； 連鎖不平衡 ； 親緣關係鑑定 ； STR (Short Tandem Repeat) ； Linkage ； Linkage Disequilibrium ； Kinship Analysis

台灣法醫學誌

6卷1期（2014 / 06 / 01）

56 - 71

英文

本研究在13個常用之核心基因（TPOX、D2S1338、D3S1358、FGA、D5S818、CSF1PO、D7S820、TH01、VWA、D16S539、D18S51、D19S433及D21S11）的0.5 cM距離內搜尋新的連鎖STR標記，分別找到了相對應的13個以4鹼基重複序列的新STR標記，並以在原本的基因名稱後方加入小寫英文字母a暫定為其名稱。在其實用性分析方面，D5S818a、CSF1POa和D7S820a的多型性資訊含量（polymorphism information content, PIC）、異質性（heterozygosity）、配對機率（matching probability）、鑑別率（power of discrimination）和排除率（power of exclusion）皆超越其相對應之核心基因。連鎖分析（linkage analysis）則顯示這些新STR基因和其相對應之核心STR基因重組率低，確實有連鎖的情形。再進一步分析這些STR標記在家族檢體中的分布是否有連鎖不平衡（linkagedisequilibrium）的情形，可發現僅TPOX/TPOXa及TH01/TH01a兩對STR組合沒有連鎖不平衡的情形。本研究也藉由兩個親緣關係鑑定的實例來示範此新STR系統的實用性。

In this study, a total of 13 new STR markers were found within close range (＜0.5 cM) from commonly used core loci (TPOX, D2S1338, D3S1358, FGA, D5S818, CSF1PO, D7S820, TH01, VWA, D16S539, D18S51, D19S433 and D21S11), they are tentatively named by adding a to the name of original core loci. Out of all the markers found, D5S818a, CSF1POa and D7S820a showed better PIC (polymorphism information content), heterozygosity, matching probability, power of discrimination and power of exclusion comparing to their respective core loci. Linkage analysis showed all new STR loci are strongly linked to the core loci, and linkage disequlibrium was detected in all STR pairs using family samples except for TPOX/TPOXa and TH01/TH01a. Two real kinship cases were presented to demonstrated the usefulness of the new system.

1. Rockefeller University LINKAGE programs for Windows and Linux, 2014; Retrieved from http://www.jurgott.org/linkage/LinkagePC.html
2. Brenner CH: DNA-VIEW, n.d.; Retrieved from http://dna-view.com/
3. Benson, G(1999).Tandem repeats finder: A program to analyze DNA sequences.Nucleic Acids Res,27,573-80.
4. Butler, JM(2010).Fundamentals of Forensic DNA Typing.San Diego, CA:Elsevier Academic Press.
5. Castañeda, M,Mijares, V,Riancho, JA,Zarrabeitia, MT(2012).Haplotypic blocks of X-linked STRs for forensic cases: Study of recombination and mutation rates.J Forensic Sci,57,192-5.
6. Excoffier, L,Lischer, HE(2010).Arlequin suite ver 3.5: A new series of programs to perform population genetics analyses under Linux and Windows.Mol Ecol Resour,10,564-7.
7. Gjertson, DW,Brenner, CH,Baur, MP(2007).ISFG: Recommendations on biostatistics in paternity testing.Forensic Sci Int Genet,1,223-31.
8. Liu, K,Muse, SV(2005).PowerMarker: An integrated analysis environment for genetic marker analysis.Bioinformatics,21,2128-9.
9. Lu, D,Liu, Q,Wu, W,Zhao, H(2012).Mutation analysis of 24 short tandem repeats in Chinese Han population.Int J Legal Med,126,331-5.
10. Mardini, AC,Rodenbusch, R,Schumacher, S(2011).Mutation rate estimates for 13 STR loci in a large population from Rio Grande do Sul, Southern Brazil.Int J Legal Med,127,45-7.
11. O'Connor, KL,Hill, CR,Vallone, PM,Butler, JM(2011).Linkage disequilibrium analysis of D12S391 and vWA in U.S. population and paternity samples.Forensic Sci Int Genet,5,538-40.
12. Ott, J(1999).Analysis of Human Genetic Linkage.Baltimore, MD:Johns Hopkins University Press.
13. Pinto, N,Magalhães, M,Conde-Sousa, E(2012).Assessing paternities with inconclusive STR results: The suitability of bi-allelic markers.Forensic Sci Int Genet,7,16-21.
14. Sun, HY,Li, HX,Zeng, XP,Ren, Z,Chen, WJ(2012).A paternity case with mutations at three CODIS core STR loci.Forensic Sci Int Genet,6,e61e62.
15. Vallone, PM,Butler, JM(2004).AutoDimer: A screening tool for primer-dimer and hairpin structures.Biotechniques,37,226-31.
16. Yuasa, I,Irizawa, Y,Nishimukai, H(2011).A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles.Int J Legal Med,125,121-5.