Multiple methods used for type detection of uniparental disomy in paternity testing

Su, Hongliang; Sun, Tingting; Chen, Man; Liu, Jinding; Wang, Xiao; Chen, Yaming; Wenyan, Ren; Zhang, Gengqian; Yan, Jiangwei; Yun, Keming

doi:10.1007/s00414-019-02215-w

Cited by 6 publications

(3 citation statements)

References 32 publications

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“…The UPD incidence was estimated to be 1 in 3500 live born babies [ 15 ], but this frequency might be underestimated as most reports present cases with a clinical phenotype [ 7 ]. Our result gives an additional example of UPD, and together with previous reports indicates the strong need to extend the panel of molecular markers analyzed to avoid false exclusions of relationships in forensic genetics [ 20 , 21 , 22 , 23 ].…”

Section: Discussionsupporting

confidence: 76%

“…Thus, in paternity cases, more attention should be paid when loci that do not conform to Mendelian inheritance rules are restricted to a single region or chromosome. The combination of several molecular techniques, i.e., STR analysis, SNP array, and massively parallel sequencing, was demonstrated to be a very effective strategy in identification of UPD [ 20 ]. Although UPDs in paternity testing have been described for small chromosomes [ 21 , 22 ], few cases of maternal uniparental isodisomy of chromosome 2 have previously been reported [ 19 , 23 ].…”

Section: Discussionmentioning

confidence: 99%

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Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2

Doniec

Luczak

Wróbel

et al. 2021

Genes

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DNA testing in cases of disputed paternity is a routine analysis carried out in genetic laboratories. The purpose of the test is to demonstrate similarities and differences in analyzed genetic markers between the alleged father, mother, and a child. The existence of differences in the examined loci between the child and the presumed father may indicate the exclusion of biological parenthood. However, another reason for such differences is genetic mutations, including chromosome aberrations and genome mutations. The presented results relate to genetic analyses carried out on three persons for the purposes of disputed paternity testing. A deviation from inheritance based on Mendel’s Law was found in 7 out of 53 STR-type loci examined. All polymorphic loci that ruled out the paternity of the alleged father were located on chromosome 2. Additional analysis of 32 insertion–deletion markers (DIPplex, Qiagen) and sequencing of 94 polymorphic positions of the single nucleotide polymorphism (SNP) type (Illumina, ForenSeq) did not exclude the defendant’s biological paternity. A sequence analysis of STR alleles and their flanking regions confirmed the hypothesis that the alleles on chromosome 2 of the child may originate only from the mother. The results of the tests did not allow exclusion of the paternity of the alleged father, but are an example of uniparental maternal disomy, which is briefly described in the literature.

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Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2

Doniec

Luczak

Wróbel

et al. 2021

Genes

View full text Add to dashboard Cite

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“…All loci showed a relatively high frequency of SNP 1-haplotype varying from 0.174 to 0.826, so I values ranged from 0.246 to 0.375 and the TDPI was 0.996958569 (Table 3), which indicated that, theoretically each SNP-SNP was able to detect minor contributors in approximately one third of the mixtures or there was approximately a 99.7% probability to detect at least one informative allele of a minor contributor's DNA in a two-person mixture using this system. In addition, some researchers have applied SNP-STRs and DIP-STRs to noninvasive prenatal testing (NIPAT), and results showed that both markers had a good application potential [34][35][36]. Therefore, we assumed that NIPAT may also be achieved using SNP-SNPs through maternal plasma DNA.…”

Section: Discussionmentioning

confidence: 99%

A new approach to detect a set of SNP‐SNP markers: Combining ARMS‐PCR with SNaPshot technology

Zhang

Jian

et al. 2020

Electrophoresis

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Microhaplotypes are a new promising type of forensic genetic marker. Without the interference of stutter and high mutation rates as for STRs, and with short amplification lengths and a higher degree of polymorphism than single SNP, microhaplotypes composed of two SNPs, SNP-SNP, have a strong application potential. Currently, the most common method to detect microhaplotypes is massive parallel sequencing. However, the cost and extensive use of instruments limit its wide application in forensic laboratories. In this study, we screened 23 new SNP-SNP loci and established a new detection method by combining a multiplex amplification refractory mutation system-based PCR (ARMS-PCR) and SNaPshot technology based on CE. First, we introduced an additional deliberate mismatch at the antepenultimate base from the 3 end of primers when designing ARMS-PCR for SNP 1 (the first SNP of the SNP-SNP). Then, single base extension primers for SNaPshot assay were designed next to the position of SNP 2 (the second SNP). Finally, 15 loci were successfully built into four panels and these loci showed a relatively high level of polymorphism in the Southwest Chinese Han population. All the loci had an average probability of informative genotypes (I value) of 0.319 and a combined discrimination power of 0.999999999. Therefore, this new detection system will provide a valuable supplement to current methods.

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Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity

Semikhodskii,

Makarova,

Sutyagina

2023

Mol Genet Genomics

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Multiple methods used for type detection of uniparental disomy in paternity testing

Cited by 6 publications

References 32 publications

Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2

Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2

A new approach to detect a set of SNP‐SNP markers: Combining ARMS‐PCR with SNaPshot technology

Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity

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