title: Mutation rate at commonly used forensic STR loci: paternity testing experience.
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 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.
authors.affiliation: The Council of Forensic Medicine, Cerrahpaşa, 34300, Istanbul, Turkey.
authors.forename: Faruk
authors.initials: F
authors.lastname: Aşicioglu
authors.forename: Fatma
authors.initials: F
authors.lastname: Oguz-Savran
authors.forename: Ugur
authors.initials: U
authors.lastname: Ozbek
mesh_terms: D000483:Alleles; D005192:Family Health; D005220:Fathers; D005260:Female; D005554:Forensic Medicine / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009035:Mothers; D009154:Mutation; D010334:Paternity; D017422:Sequence Analysis, DNA; D020080:Tandem Repeat Sequences