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.
Aşicioglu
Faruk
F
The Council of Forensic Medicine, Cerrahpaşa, 34300, Istanbul, Turkey.
Oguz-Savran
Fatma
F
Ozbek
Ugur
U
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