Mutation rates for 29 short tandem repeat loci from the Ecuadorian population

Gaviria, A.; Vela, M.; Fiallos, Gisella; Gruezo, Carmen; Cobos, S.; Builes, J.J.; Zambrano, Ana Karina

doi:10.1016/j.fsigss.2017.09.103

Cited by 7 publications

(2 citation statements)

References 3 publications

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“…The average mutation rate estimated across all loci was 0.0036. Our mutation rates were higher compared to other populations 28 – 30 . Higher mutation rates were observed in the loci which are longer and have uninterrupted repeats for example FGA and SE33 (Table 4 ).…”

Section: Discussioncontrasting

confidence: 84%

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Analysis of data and common mutations encountered during routine parentage testing in Zimbabwe

Thelingwani,

Jonhera,

Masimirembwa

2024

Sci Rep

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We analyzed parentage data collected over a ten-year period in a Zimbabwean DNA testing laboratory. Parentage case types, prevalence, exclusion data, mutations rates and observed genotyping irregularities were analyzed. We report analysis results from 1303 cases. DNA extraction and STR typing was conducted using standard commercial kits. Paternity was the most requested test (87.37%) followed by the indirect biological kinship tests (7.01%). Duo paternity (motherless) was the most common paternity test for both regular and court cases. We observed 367 paternity exclusions from 1135 cases, giving an overall paternity exclusion rate of 32.33%. Maternity had the lowest exclusion rate (8.33%), with criminal cases having the highest paternity (61.11%) and maternity (33.33%) exclusion rates. The number of mismatched STR loci ranged from 2–12 for duo cases and 4–18 for the trio cases. FGA, D2S1338, D18S51 and D2S441 were the most informative markers for exclusion. We detected 30 mutations out of 837 cases with an estimated paternal and maternal mutation rate of 0.0021 and 0.0011 respectively. Triallelic patterns were only observed at the TPOX locus with allele 10 and 11 being the extra alleles transmitted. Our report provides forensic parameters which can improve parentage and forensic analysis in Zimbabwe.

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Section: Discussioncontrasting

confidence: 84%

“…Mutations were not observed for Penta D, PentaE, TPOX, TH01, D16S539, D8S1179, D22S1045, D13S317, D7S820, D12S391 and D6S1043. This could be because of the small sample size as mutations rates for some STR loci have been reported to be low 5 , 28 , 32 . The mutation rates were corrected for the possibility of null alleles.…”

Section: Discussionmentioning

confidence: 99%