Sohee Cho1, Hee Jin Seo1, Jihyun Lee1, Hyung Jin Yu2, Soong Deok Lee3. 1. Department of Forensic Medicine, Seoul National University, College of Medicine, Seoul, South Korea. 2. DNA Link, Seoul, South Korea, Seoul, South Korea. 3. Department of Forensic Medicine, Seoul National University, College of Medicine, Seoul, South Korea; Institute of Forensic Science, Seoul National University, College of Medicine, Seoul, South Korea.
Abstract
BACKGROUND: Kinship testing using biallelic SNP markers has been demonstrated to be a promising approach as a supplement to standard STR typing, and several systems, such as pyrosequencing and microarray, have been introduced and utilized in real forensic cases. The Affymetrix microarray containing 169 autosomal SNPs developed for forensic application was applied to our practical case for kinship analysis that had remained inconclusive due to partial STR profiles of degraded DNA and possibility of inbreeding within the population. CASE REPORT: 169 autosomal SNPs were typed on array with severely degraded DNA of two bone samples, and the kinship compared to genotypes in a reference database of their putative family members. RESULTS: Two bone samples remained unidentified through traditional STR typing with partial profiles of 10 or 14 of 16 alleles. Because these samples originated from a geographically isolated population, a cautious approach was required when analyzing and declaring true paternity only based on PI values. In a supplementary SNP typing, 106 and 78 SNPs were obtained, and the match candidates were found in each case with improved PI values than using only STRs and with no discrepant SNPs in comparison. CONCLUSION: Our case showed that the utility of multiple SNPs on array is expected in practical forensic caseworks with an establishment of reference database.
BACKGROUND: Kinship testing using biallelic SNP markers has been demonstrated to be a promising approach as a supplement to standard STR typing, and several systems, such as pyrosequencing and microarray, have been introduced and utilized in real forensic cases. The Affymetrix microarray containing 169 autosomal SNPs developed for forensic application was applied to our practical case for kinship analysis that had remained inconclusive due to partial STR profiles of degraded DNA and possibility of inbreeding within the population. CASE REPORT: 169 autosomal SNPs were typed on array with severely degraded DNA of two bone samples, and the kinship compared to genotypes in a reference database of their putative family members. RESULTS: Two bone samples remained unidentified through traditional STR typing with partial profiles of 10 or 14 of 16 alleles. Because these samples originated from a geographically isolated population, a cautious approach was required when analyzing and declaring true paternity only based on PI values. In a supplementary SNP typing, 106 and 78 SNPs were obtained, and the match candidates were found in each case with improved PI values than using only STRs and with no discrepant SNPs in comparison. CONCLUSION: Our case showed that the utility of multiple SNPs on array is expected in practical forensic caseworks with an establishment of reference database.
Keywords:
Kinship testing; Microarray; Reference database; SNP
Authors: D J Cutler; M E Zwick; M M Carrasquillo; C T Yohn; K P Tobin; C Kashuk; D J Mathews; N A Shah; E E Eichler; J A Warrington; A Chakravarti Journal: Genome Res Date: 2001-11 Impact factor: 9.043
Authors: Kenneth K Kidd; Andrew J Pakstis; William C Speed; Elena L Grigorenko; Sylvester L B Kajuna; Nganyirwa J Karoma; Selemani Kungulilo; Jong-Jin Kim; Ru-Band Lu; Adekunle Odunsi; Friday Okonofua; Josef Parnas; Leslie O Schulz; Olga V Zhukova; Judith R Kidd Journal: Forensic Sci Int Date: 2005-12-19 Impact factor: 2.395
Authors: M Fondevila; C Phillips; N Naveran; L Fernandez; M Cerezo; A Salas; A Carracedo; M V Lareu Journal: Forensic Sci Int Genet Date: 2008-04-10 Impact factor: 4.882
Authors: Kaarel Krjutskov; Triin Viltrop; Priit Palta; Ene Metspalu; Erika Tamm; Siim Suvi; Katrin Sak; Alo Merilo; Helena Sork; Rita Teek; Tiit Nikopensius; Toomas Kivisild; Andres Metspalu Journal: Forensic Sci Int Genet Date: 2009-05-15 Impact factor: 4.882
Authors: J A Lorente; Carmen Entrala; J C Alvarez; Miguel Lorente; Blanca Arce; Beatriz Heinrich; Félix Carrasco; Bruce Budowle; Enrique Villanueva Journal: Int J Legal Med Date: 2002-06 Impact factor: 2.686