Mutation rate at commonly used forensic STR loci: Paternity testing experience

Article type: Research Article

Authors: Aşıcıoǧlu, Faruk | Oguz-Savran, Fatma | Ozbek, Ugur^;

Affiliations: The Council of Forensic Medicine, Cerrahpaşa, 34300, Istanbul, Turkey | Istanbul Medical Faculty, Medical Biology Department, Istanbul University, Turkey | Genetics Department, Institute for Experimental Medicine (DETAE), Istanbul University, 34280, Istanbul, Turkey

Note: [] Corresponding author. Tel.:/Fax: +90 212 631 1351; E-mail: uozbek@istanbul.edu.tr

Abstract: Paternity tests are carried out by the analysis of hypervariable short tandem repeat DNA loci. These microsatellite sequences mutate at a higher rate than that of bulk DNA. The occurrence of germline mutations at STR loci posses problems in interpretation of resulting genetic profiles. We recently analyzed 59–159 parent/child allele transfers at 13 microsatellite loci. We identified 12 mutations in 7 microsatellite loci. No mutations were occurred in other 6 loci. The highest mutation rate was observed with 5 mutations at D8S1179 locus at different alleles. The event was always single repeat related. The mutation rate was between 0 and 1.5 × 10^{-2} per locus per gamete per generation. The mutation event is very crucial for forensic DNA testing and accumulation of STR mutation data is extremely important for genetic profile interpretation.

Keywords: STR, mutation, paternity testing, short tandem repeat

Journal: Disease Markers, vol. 20, no. 6, pp. 313-315, 2004