An update of STR mutation rates from paternity tests analyzed in a 14 year period (2005–2018) at IdentiGEN lab, Universidad de Antioquia, Colombia

Burgos, Germán; Posada, Y.; Florez-Misas, A.; Ávila, Carlos; Ibarra, A.

doi:10.1016/j.fsigss.2019.10.078

Cited by 3 publications

(3 citation statements)

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“…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%

“…Single step mutations are the most widely reported in routine parentage testing 3 while multi-step mutations rarely occur 3 , 4 . These mutations complicate analysis of parentage cases as they affect the paternity or maternity index, and in such cases it becomes important to use mutation rates instead of the routine allele frequencies for calculation 5 . It is therefore important to account for the possibility of gene mutations when considering parentage exclusions.…”

Section: Introductionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Thelingwani,

Jonhera,

Masimirembwa

2024

Sci Rep

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show abstract

“…In such scenarios, the detection of mutation(s) has practical consequences in the interpretation of the genetic profiles. Some studies have addressed this by analyzing different familial configurations, familial duos, mother-son, mother-daughter, and father-daughter, and familial trios, father-mother-daughter (e.g., Jin et al, 2016;Burgos et al, 2019;García et al, 2019). Supplementary Table 3 presents the most updated information on mutation rates per marker and per familial configuration for the most commonly used X-STRs.…”

Section: Segregation Studies: Current Data and Missing Datamentioning

confidence: 99%