<i>TPOX</i> Triallelic Genotype: An Interesting Pattern to Be Noted in Bone Marrow Transplantation Monitoring

HoteitRouba,; Abdul, KhalekRabab; AntarAhmad,; MahfouzRami, A R

doi:10.1089/gtmb.2014.0311

Cited by 3 publications

(1 citation statement)

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“…The bias towards the type 2 allelic pattern was excepted and has been previously reported as biased toward type 2 20 , 21 . High frequency of triallelic patterns at the TPOX locus have also been previously reported 20 , with variation between populations and is highest among Africans 22 . Triallelic genotypes at other loci, for example TH01 and CSFPO have been reported but at very low frequencies 20 , 21 .…”

Section: Discussionsupporting

confidence: 62%

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: Discussionsupporting

confidence: 62%

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

Thelingwani,

Jonhera,

Masimirembwa

2024

Sci Rep

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Calculation of the Paternity Index for STR with tri-allelic patterns in paternity testing

Yang

Shao

et al. 2021

Forensic Science International

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Unexpected Short-Tandem-Repeat Patterns in Posttransplant Chimerism Testing: Investigation of 3 Cases with Help from Forensic Science

Gvozdjan

Casey

Mowery

et al. 2020

Laboratory Medicine

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Chimerism testing by short tandem repeats (STRs) is used to monitor engraftment after allogeneic hematopoietic stem cell transplantation (HSCT). Generally, STR alleles are stable and transferred from parent to child or from donor to recipient. However, 3 cases did not follow this norm. Additional work-up with help from forensic literature solved these mysteries. In case 1, the patient received HSCT from his son. The son shared STR alleles in 22/23 loci except Penta E, which was explained by repeat expansion in the son. In case 2, the patient had been in remission for 14 years after HSCT for lymphoma and developed repeat expansion in CSF1PO in granulocytes. In case 3, a pre-HSCT patient demonstrated 3 alleles, with 2 peaks taller than the third, in the FGA locus (chromosome 4). A combination of a triallelic variant and leukemia-associated trisomy 4 explained the finding. STR number variants are rare and clinically inconsequential but can overlap malignancy-associated, clinically significant changes.

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TPOX Triallelic Genotype: An Interesting Pattern to Be Noted in Bone Marrow Transplantation Monitoring

Abstract: Triallelic patterns of TPOX should also be considered in the context of BMT monitoring testing where misinterpretation of the allelic pattern can lead to wrong unwanted conclusions related to the graft condition and proper quantification of donor DNA.

Cited by 3 publications

References 9 publications

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

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

Calculation of the Paternity Index for STR with tri-allelic patterns in paternity testing

Unexpected Short-Tandem-Repeat Patterns in Posttransplant Chimerism Testing: Investigation of 3 Cases with Help from Forensic Science

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