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Disease Markers - Volume 20 2004, Issue 6, Pages 313-315

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

Received 18 January 2005; Accepted 18 January 2005

Copyright © 2004 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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

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.

Autor: Faruk Aşıcıoğlua, Fatma Oguz-Savran, and Ugur Ozbek



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