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

Association of PRKRAP1 pseudogene in HLA-DR53 haplotypes with acute lymphoblastic leukemia

9th International Eurasian Hematology Oncology Congress (EHOC) -- OCT 17-20, 2018 -- Istanbul, TURKEYWOS: 000447176600039