Utility of X-chromosome SNPs in relationship testing
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Utility of X-chromosome SNPs in relationship testing. / Tomas, Carmen; Sanchez, Juan Jose; Castro, J.A.; Børsting, C.; Morling, Niels.
Progress in Forensic Genetics 12: Proceedings of the 22nd International ISFG Congress. ed. / Niels Morling. Vol. 1 Elsevier, 2008. p. 528-530 (Forensic Science International: Genetics Supplement Series; No. 1, Vol. 1).Research output: Chapter in Book/Report/Conference proceeding › Article in proceedings › Research › peer-review
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TY - GEN
T1 - Utility of X-chromosome SNPs in relationship testing
AU - Tomas, Carmen
AU - Sanchez, Juan Jose
AU - Castro, J.A.
AU - Børsting, C.
AU - Morling, Niels
PY - 2008
Y1 - 2008
N2 - X-chromosome markers may complement the results obtained from other genetic markers in complex relationship cases. Until now, reports on relationship testing using X-chromosome markers have mainly included data of short tandem repeats (STRs) while little data on single nucleotide polymorphisms (SNPs) in relationship testing have been published. We selected 25 highly polymorphic biallelic SNPs distributed through the human X-chromosome. One 25-plex PCR reaction and one 25-plex single base extension (SNaPshot) reaction were developed. The maximum size of the PCR products was 120ábp and the size of the SBE primers varied between 18 and 85 nucleotides. We analyzed the allele and haplotype frequencies in 1078 unrelated males. All the SNPs were polymorphic and the lowest minor allele frequency was 0.103. All the haplotypes were unique. The forensic parameters were calculated in the Danish and Somali populations. In the Danish population (Ná=á93), the power of discrimination (PD) in females was one in 4.4áÎá109 individuals and the PD in males was one in 2.6áÎá106. The PD in Somalis (Ná=á91) was one in 2.7áÎá109 in females and one in 1.7áÎá106 in males. Finally, we present an example of how the 25 X-chromosome SNP-multiplex may help to solve a complex immigration case
AB - X-chromosome markers may complement the results obtained from other genetic markers in complex relationship cases. Until now, reports on relationship testing using X-chromosome markers have mainly included data of short tandem repeats (STRs) while little data on single nucleotide polymorphisms (SNPs) in relationship testing have been published. We selected 25 highly polymorphic biallelic SNPs distributed through the human X-chromosome. One 25-plex PCR reaction and one 25-plex single base extension (SNaPshot) reaction were developed. The maximum size of the PCR products was 120ábp and the size of the SBE primers varied between 18 and 85 nucleotides. We analyzed the allele and haplotype frequencies in 1078 unrelated males. All the SNPs were polymorphic and the lowest minor allele frequency was 0.103. All the haplotypes were unique. The forensic parameters were calculated in the Danish and Somali populations. In the Danish population (Ná=á93), the power of discrimination (PD) in females was one in 4.4áÎá109 individuals and the PD in males was one in 2.6áÎá106. The PD in Somalis (Ná=á91) was one in 2.7áÎá109 in females and one in 1.7áÎá106 in males. Finally, we present an example of how the 25 X-chromosome SNP-multiplex may help to solve a complex immigration case
M3 - Article in proceedings
VL - 1
T3 - Forensic Science International: Genetics Supplement Series
SP - 528
EP - 530
BT - Progress in Forensic Genetics 12
A2 - Morling, Niels
PB - Elsevier
Y2 - 21 August 2007 through 25 August 2007
ER -
ID: 14465725