Typing of 49 autosomal SNPs by single base extension and capillary electrophoresis for forensic genetic testing

TY - JOUR

T1 - Typing of 49 autosomal SNPs by single base extension and capillary electrophoresis for forensic genetic testing

AU - Børsting, Claus

AU - Tomas Mas, Carmen

AU - Morling, Niels

PY - 2012

Y1 - 2012

N2 - We describe a method for simultaneous amplification of 49 autosomal single nucleotide polymorphisms (SNPs) by multiplex PCR and detection of the SNP alleles by single base extension (SBE) and capillary electrophoresis. All the SNPs may be amplified from only 100 pg of genomic DNA and the length of the amplicons range from 65 to 115 bp. The high sensitivity and the short amplicon sizes make the assay very suitable for typing of degraded DNA samples, and the low mutation rate of SNPs makes the assay very useful for relationship testing. Combined, these advantages make the assay well suited for disaster victim identifications, where the DNA from the victims may be highly degraded and the victims are identified via investigation of their relatives. The assay was validated according to the ISO 17025 standard and used for routine case work in our laboratory.

AB - We describe a method for simultaneous amplification of 49 autosomal single nucleotide polymorphisms (SNPs) by multiplex PCR and detection of the SNP alleles by single base extension (SBE) and capillary electrophoresis. All the SNPs may be amplified from only 100 pg of genomic DNA and the length of the amplicons range from 65 to 115 bp. The high sensitivity and the short amplicon sizes make the assay very suitable for typing of degraded DNA samples, and the low mutation rate of SNPs makes the assay very useful for relationship testing. Combined, these advantages make the assay well suited for disaster victim identifications, where the DNA from the victims may be highly degraded and the victims are identified via investigation of their relatives. The assay was validated according to the ISO 17025 standard and used for routine case work in our laboratory.

KW - Base Pairing

KW - Chromosomes, Human

KW - DNA

KW - DNA Primers

KW - Electrophoresis, Capillary

KW - Forensic Genetics

KW - Genotyping Techniques

KW - Humans

KW - Oligonucleotides

KW - Polymerase Chain Reaction

KW - Polymorphism, Single Nucleotide

U2 - 10.1007/978-1-61779-461-2_7

DO - 10.1007/978-1-61779-461-2_7

M3 - Journal article

C2 - 22139655

SN - 1940-6029

VL - 830

SP - 87

EP - 107

JO - Methods in molecular biology (Clifton, N.J.)

JF - Methods in molecular biology (Clifton, N.J.)

ER -