Faruk Aşıcıoğlua, Fatma Oguz-Savran, Ugur Ozbek, "Mutation Rate at Commonly Used Forensic STR Loci: Paternity Testing Experience", Disease Markers, vol. 20, Article ID 643086, 3 pages, 2004. https://doi.org/10.1155/2004/643086
Mutation Rate at Commonly Used Forensic STR Loci: Paternity Testing Experience
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 x 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.
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