Uniparental disomy of chromosome 21: A statistical approach and application in paternity tests

Cavalheiro, C.P; Avila, Eduardo; Gastaldo, André Zoratto; Graebin, Pietra; Motta, Carlos; Rodenbusch, Rodrigo; Alho, Clarice Sampaio

doi:10.1016/j.fsigen.2020.102368

Cited by 4 publications

(6 citation statements)

References 36 publications

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“…In general, this approach is quite conservative, as Cavalheiro et al. [ 3 ] suggest that it reduces the strength of the evidence. They propose considering the genetic markers on the UPD chromosome as a whole when calculating the PI value for similar cases.…”

Section: Resultsmentioning

confidence: 99%

“…They propose considering the genetic markers on the UPD chromosome as a whole when calculating the PI value for similar cases. The specific method is to use the prevalence of UPD on the chromosome in the population as the numerator, and the product of the obligate paternal allele (OPA) frequencies for UPD chromosome markers as the denominator [ 3 ]. This is a valuable suggestion.…”

Section: Resultsmentioning

confidence: 99%

“…UPD is observed on all chromosomes [ 8 ]. Cases of UPD in paternity testing are relatively rare, with only isolated reports to date, such as chromosome 2 [ 12–14 ], chromosome 4 [ 15 ], and chromosome 21 [ 3 ]. These reports typically involve individuals with a single UPD chromosome, and in rarer cases, multiple UPD chromosomes [ 16 ].…”

Section: Resultsmentioning

confidence: 99%

“…This concept was first described by Engel in 1980 [ 1 ] and subsequently demonstrated as a mechanism for human genetic disease in 1988 [ 2 ]. Mechanisms for UPD formation include trisomy rescue, gamete complementation, postfertilization error, and monosomic rescue [ 3–7 ]. UPD can be classified as uniparental isodisomy (isoUPD, from a single chromosome of a single parent), uniparental heterodisomy (hetUPD, from both chromosomes of a single parent), and mixed UPD (both isodisomy and heterodisomy on the same chromosome), and based on the origin, it can be distinguished as maternal (matUPD) or paternal UPD (patUPD) [ 3–7 ].…”

Section: Introductionmentioning

confidence: 99%

“…Mechanisms for UPD formation include trisomy rescue, gamete complementation, postfertilization error, and monosomic rescue [ 3–7 ]. UPD can be classified as uniparental isodisomy (isoUPD, from a single chromosome of a single parent), uniparental heterodisomy (hetUPD, from both chromosomes of a single parent), and mixed UPD (both isodisomy and heterodisomy on the same chromosome), and based on the origin, it can be distinguished as maternal (matUPD) or paternal UPD (patUPD) [ 3–7 ]. In a study involving 4 million healthy individuals, the overall incidence of UPD was 1 in 2 000 births, with matUPD incidence higher than patUPD [ 4 , 6 , 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing

Ren,

Liu,

Chen

et al. 2024

Forensic Sciences Research

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In paternity testing, when there are Mendelian errors in the alleles between the child and the parents, slippage mutation or silent allele may not fully explain the phenomenon. Sometimes, it is attributed to chromosomal abnormalities, such as uniparental disomy (UPD). Here, we present the investigation of two cases of suspected UPD in paternity testing based on STR detection (CE platform). Case 1 involves a trio, where all genotypes detected on chromosome 6 in the child are homozygous and found in the father. Case 2 is a duo (mother and child), where all genotypes on chromosome 3 in the child are homozygous and not always found in the mother. At the same time, Mendelian errors alleles were also observed at specific loci in these two chromosomes. Furthermore, we used the MGIEasy Signature Identification Library Prep Kit for sequencing on the MPS platform, which included common autosomal, X and Y chromosomes, and mitochondrial genetic markers used in forensic practice. The results showed that the genotypes of shared STRs on the two platforms were consistent, and STRs and SNPs on these two chromosomes were homozygous. All other genetic markers followed the laws of inheritance. A comprehensive analysis supported the parent–child relationship between the child and the alleged parent, and the observed genetic anomalies can be attributed to UPD. UPD occurrences are rare, and ignoring its presence can lead to erroneous exclusions in paternity testing, particularly when multiple loci on a chromosome exhibit homozygosity.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%