Motherless case in paternity testing

In paternity test using the DNA evidence, the analysis of the deficient case that the DNA profiles of mother or alleged father are not available is different from that of the trio case analyzed routinely. However, the motherless case that the genotypes of mother is not available has been requested and analyzed like the trio case. In this paper, we compared the motherless case and the trio case through the mean exclusion chance describing the probability of exclusion for a genetic marker system and the distribution of the probability of paternity calculated using the three current methods. We have also shown a case which can be falsely discriminated if it were requested in the analysis of the motherless case, and conclude that the analysis of the motherless case should be carefully conducted and the level for the discrimination should be different from that of the trio case.     

Intentional mixed buccal cell reference sample in a paternity case

We report a case where an alleged father (AF) attempted to substitute someone else's saliva sample for his reference sample in a paternity analysis. Buccal cells were collected from the AF and the child, and DNA analysis was performed using an autosomal STR loci (Identifiler). The profile from the AF showed extra peaks in some loci, as well as a much higher "X" allele peak relative to the "Y" allele peak at the amelogenin locus. After conducting reanalysis by another technician with another set of positive and negative controls, it was concluded that the only source of the mixed profile was by intentional introduction by the AF, at the time of sampling, of some foreign human biological material, most likely saliva from a woman. Owing to the inconclusive results, when the AF was called back to the lab and the peculiar results were explained to him, he admitted that he had introduced into his mouth saliva from another person in an attempt to be excluded as the father of the child. Although tampering with DNA reference samples is not common, some individuals may attempt to contaminate or otherwise adulterate specimens before DNA tests. Personnel responsible for sampling should be aware of this possibility and should try to establish procedures to avoid the problem.     

Congenital tetragametic blood chimerism explains a case of questionable paternity

Human chimerism is the presence of ≥ 2 cell populations in one person that contain genetic material from more than one zygote. Chimerism may be either acquired by transfusion or transplantation of donor cells, or congenital arising from embryo fusion or dizygotic twin-twin transfusion. We encountered a 4-year-old boy with developmental hip dysplasia whose preoperative (serologic) blood group was AB, but whose red cell agglutination was atypical ("mixed field") and caused us to study the patient's parents' ABO blood groups. Parental blood groups (AB and O) suggested possible nonparentage. An alternative explanation of the findings was that the child was chimeric or mosaic. Molecular cloning and genotyping of his ABO locus in leukocytes revealed two heterozygous genotypes: A102/O01 and B101/O01. Other loci, each of which possessed three distinct alleles, unambiguously showed transmission of two alleles from either the child's mother (e.g., HLA-A) or two alleles from the child's father (e.g., D8S1179). Findings indicate that the child is a tetragametic chimera.     

True paternity or exclusion: analysis in the case of a deceased party

State-of-the-art technology can play a significant role in solving forensic and parentage problem cases if an expert scientist is employed in the analysis and interpretation of test results. As presented in this paper, there are differences of opinion among witnesses examining the same evidence, therefore illustrating the need for careful examination of evidence even by the expert.     

Unusual association of three rare alleles and a mismatch in a case of paternity testing

This study reports a paternity case analyzed by the AmpFlSTR Identifiler Kit (AB) in which father and daughter shared three rare alleles for D19S433, D18S51 and TH01 microsatellites. The case also showed an apparent exclusion, due to a mutation at the D3S 1358 microsatellite. Sequencing analysis was performed to assess the size of the rare alleles and to establish their structure, which revealed some molecular variations in regions flanking the motif repeats.     

The potential contribution of MVR-PCR to paternity probabilities in a case lacking a mother.

Minisatellite variant repeat (MVR) mapping using the polymerase chain reaction (PCR) was applied to a paternity case lacking a mother to evaluate the paternity probability. After three flanking polymorphic sites at each of MS31A and MS32 loci were investigated from the child and alleged father, allele-specific MVR-PCR was performed using genomic DNA. It was confirmed that one allele in the child was identical to that in the alleged father at both loci. Mapped allele codes were compared with allele structures established from population surveys. No perfect matches were found although some motifs were shared with other Japanese alleles. The paternity index and probability of paternity exclusion at these two MVR loci were then estimated, establishing the power of MVR-PCR even in paternity cases lacking a mother.     

Population data of four X-chromosome markers in Tuscany, and their use in a deficiency paternity case

Four X-chromosome markers (DXS101, HPRTB, DXS8377, and STRX-1) were typed in a population sample from Tuscany, Italy, using a single amplification reaction. Resolution of a deficiency paternity case involving two women (either they were half-sisters or non-relatives) was made possible by typing these marker in addition to 16 conventional autosomal markers.     

Analysis of DNA multilocus profiles in a paternity case in which the child's profile may be partial

This report describes a simple approach to multilocus paternity analysis for cases where the child's sample may be inadequate leading to a partial profile. A specimen calculation is given. A previous paper described how the various band sharing configurations in the DNA multilocus profiles of a mother-child-putative father trio could be combined in a comprehensive mathematical analysis to give an overall Bayesian likelihood ratio. In that paper, it was assumed that all three members of the trio gave full DNA profiles. In some cases that assumption may not be valid but it is possible to extend the analysis to allow for partial profiles. This paper demonstrates how this may be done by considering the case where the child's profile may be partial for one reason or another. A specimen calculation is given.     

双亲皆疑亲子鉴定STR分型亲权指数计算方法探讨

计算标准三联体亲子鉴定的PI值及探讨双亲皆疑亲子鉴定PI值计算的可靠方法 ,对常规STR分型鉴定结果 ,根据Eseen M ller计算理论 ,总结出标准三联体亲子鉴定计算PI值的 4个公式 :1/ p ,1/ ( 2 p) ,1/ (p +q) ,1/ ( 2p +2 q)。提出适用于双亲皆疑亲子鉴定的一种新的PI值计算方法 ,并与其他方法进行比较。认为该方法取值Y时 ,既考虑随机男女生孩子的可能性 ,也考虑假设父 (或假设母 )与随机个体生孩子的可能性 ,更符合随机原则。     

A search for obligatory paternal alleles in a DNA database to find an alleged rapist in a fatherless paternity case

Abstract: A sexual assault case resulted in a pregnancy, which was subsequently aborted. The alleged father of the fetus was unknown. Maternal and fetal types were obtained using the 11‐locus AmpF?STR^® SGM Plus^® kit. The national DNA database was searched for the paternal obligatory alleles and detected two suspects who could not be excluded as father of the male fetus. Additional typing using the AmpF?STR^® Minifiler^? kit, containing three additional autosomal loci, was not sufficient to exclude either suspect. Subsequent typing using the PowerPlex^® 16, containing four additional loci, and Y‐Filer^? kits resulted in excluding one suspect. Searching a database for paternal obligatory alleles can be fruitful, but is fraught with possible false positive results so that finding a match must be taken as only preliminary evidence.     

Introduction of a standardized "paternity index" for the statistical evaluation of blood group findings in paternity testing

The introduction of a standardized paternity index (PI) for the statistical evaluation of blood group findings in cases of disputed paternity is proposed and explained. By using the PI $\text{X}\text{Y}$ as parameter, it is not necessary to give the information of the probability of paternity in percent. The PI includes the full information of the blood group findings. In addition to that, by using the suggested standardization based on the probabilities of error according to Schulte Mönting and Walter the test volume is also taken into account. The interpretation of the mathematical result is given by verbal predicates, the limitations of which are orientated by the verbal predicates for the probabilities of error according to Schulte Mönting and Walter, published by us elsewhere. Besides the essential fact that the test volume is taken into account, the most important advantage of this procedure is that the mathematical result is involved in the court decision only by the PI (which is free of any valuation) and its verbal predicate and not by sometimes relatively high percentages, which may be misunderstood by laymen.     

A case of multiple assignments (paternity/maternity) in an equine-out breeding system

Recently, the use of DNA markers has provided a more accurate method of identifying individuals and verifying parentage. In this report, we describe foal assignment in a farm bred jumping horses (Silla argentino). Ten mares were freely served by two stallions, resulting in nine foals. Weaning occurred without registration of the mare of each offspring, resulting in a failure to identify either the mare or the sire of each foal. Animals were typed using 12 microsatellite systems and four biochemical polymorphisms in order to determine the paternity/maternity of each foal. We used the CERVUS program to evaluate the parentage of each offspring. It was possible to determine maternity in eight cases, and paternity in all of them. We concluded that this set of codominant markers analyzed following a likelihood-based approach included in the CERVUS package, are useful tools to solve parentage assignments in domestic horses.     

Fatal outcome in a case of pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal recessive) condition with fetal onset. Only a few cases have been published on the basis of both clinical data (symptoms/neuroradiological imaging) and autopsy results. This paper reports on such a case involving a 1.5-year-old male infant. The child suffered from severe psychomotor delay, extrapyramidal dyskinesia and epileptic seizures, but did not exhibit signs of spinal muscular atrophy as related to PCH type 1. Magnetic resonance imaging (MRI) at the age of 6 months demonstrated olivo-pontine and bilateral cerebellar hypoplasia. The boy was unexpectedly found dead. Autopsy disclosed a severe aspiration of gastric contents as the final cause of death. The neuropathological examination confirmed PCH type 2 (according to Barth [Brain Dev., 15 (1993) 411-422]) with marked microcephaly and olivopontocerebellar hypoplasia. Histologically, decreased density of olivo-pontine neurons, reduction of granular and Purkinje's cell layers of the cerebellum, slight astroglial proliferation and fragmented appearance of the dentate nuclei were observed. The immunohistochemical expression pattern was determined using antibodies against glial fibrillary acidic protein, synaptophysin and neurofilament protein. Summarizing, typical features of PCH type 2 were present and proved by clinical course, MRI and autopsy. Despite severe symptoms due to a natural disease this rare neurogenetic entity can become of forensic interest, when sudden unexpected death occurs.     

A case of paternity testing influenced by the silent allele of Rh erythrocyte groups

A paternity test is presented in which a father and his two children possessed an extremely rare amorphic gene R-29 (r,---). One of the children was determined to be illegitimate at the first trial as her Rh phenotype was R2R2(ccDEE) and the father's phenotype was R1R1(CCDee). At the Court of Appeal, however, the rare Rh gene r(---) was shown to be inherited from the father to the appellant child through extended tests including her brother whose phenotype was also R2R2(ccDEE). She was acknowledged to be legitimate.     

The use of chromosomes in paternity actions

The authors performed paternity investigations for many years by the order of the court and on this basis they give expert opinion in discussed paternity cases. In recent years opinion was given with the help of chromosome studies in cases where neither blood group nor anthropology investigations were decisive. From a couple of hundred persons the thickening of the heterochromatic part of the chromosomes studied by C-band methods is evaluated (1, 9, 16, Y) and (within this) the occurrence of total or partial inversion is observed. The frequency of polymorphism was studied among the chromosomes investigated by the C-band technique. From these data the authors aimed at deducing exact relationship: and forming the most exact possible expert's opinion in this problem which is of social significance as well.     

S—s—U— phenotype in the coloured population of Cape Town: Problems encountered in paternity tests

Two Cape Coloured persons of mixed White, Khoikhoi, Malay, Black parentage in Cape Town whose red cells were found to be S—s—U— establish that the rare S^u allele is present in this population group. The most likely source of the S^u allele in them is the non-indigenous Black slaves who were brought to the Cape in the early years of White settlement there. In two paternity suits involving Cape Coloured persons, maternal and paternal exclusions were present unless the inheritance of an MS^u or an NS^u chromosome was postulated, and MS, NS and Ns chromosomes were seen to accompany He+ alleles in them.     

Molecular analysis of the human esterase D gene ESD(*)Q0(yonago) responsible for incompatibility in a Japanese paternity case

In a Japanese paternity test, an alleged father was excluded only by reverse homozygosity of esterase D (ESD) phenotypes (mother, ESD 1; child, ESD 1; alleged father, ESD 2) out of 43 classical and DNA markers investigated. To solve the aberrant inheritance of the ESD phenotypes observed between them, fragments for all eight coding exons amplified by polymerase chain reaction (PCR) were subjected to DNA analysis. The child and alleged father shared a null allele, originating from ESD(*)1. It was characterized by having TGA for the stop codon instead of TCA for serine at codon 63. Thus, the sharing of a rare null gene, ESD(*)Q0(yonago), increased the probability of paternity.     

单亲亲子鉴定的分析研究

目的从理论和实际应用方面客观评价13～15个STR位点应用于单亲亲子鉴定的准确性。方法依据中国人群基因频率资料,计算单亲亲子鉴定的非父排除率及单亲亲子鉴定的亲子关系概率,并选择有明确排除结论的104例排除案例,分析统计其中父-子二联体出现的排除指标数。结果对于单亲亲子鉴定,选用13～15个STR位点,联合非父排除率为0.9805～0.9906;亲子关系概率均大于99.73%。104例二联体排除案例中,有3例的排除指标数小于2,未发现排除指标为零的现象。结论若应用ProfilerPlus和CofilerPlus试剂盒的13个STR位点进行日常单亲亲子鉴定工作,存在微弱漏判非父的风险,必要时增加检测指标数。不排除案例的单亲亲子鉴定,其亲子概率均可达国际认定标准。