Abstract：
:Short tandem repeat (STR) polymorphisms have been extensively used in forensic genetics analysis. Knowledge about the locus-specific mutation rates of STRs improves forensic probability calculations and interpretations of diversity data. To incorporate single-locus diversity information into autosomal STR mutation rate estimations, 13 STR loci were studied during 2007-2009 in 10,959 paternity investigation cases from Rio Grande do Sul, the southernmost state of Brazil, covering an overall number of 284,934 allelic transfers. A total of 355 mutations were identified; 348 repeats were gains or losses of one step, three were gains or losses of two steps, and four were gains or losses of not stepwise mutation. The mutation rates ranged from 4.6 × 10(-5) to 2.3 × 10(-3), and the overall mutation rate estimate was 1.2 × 10(-3). The average of the paternal mutation rate (1.8 × 10(-3)) was five times higher than the maternal rate (0.36 × 10(-3)). The observed mutational features for STRs have important consequences for forensic applications, including the definition of criteria for exclusion in paternity testing and the interpretation of DNA profiles in identification analysis.
journal_name
Int J Legal Medjournal_title
International journal of legal medicineauthors
Mardini AC,Rodenbusch R,Schumacher S,Chula FG,Michelon CT,Gastaldo AZ,Maciel LP,de Matos Almeida SE,da Silva CMdoi
10.1007/s00414-011-0642-xsubject
Has Abstractpub_date
2013-01-01 00:00:00pages
45-7issue
1eissn
0937-9827issn
1437-1596journal_volume
127pub_type
杂志文章abstract：:DXS8378, DXS7132, HPRTB, and DXS7423 microsatellite markers located in four different X-chromosomal linkage groups were studied in the Hungarian population. After genotyping unrelated men (219) and women (165), forensic efficiency parameters showing that the four X-linked short tandem repeats are informative for foren...
journal_title：International journal of legal medicine
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pub_type： 杂志文章,评审
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