Assignment of paternity in a judicial dispute between two neighbor Holstein dairy farmers

DNA profiling was used as evidence to assign paternity in a dispute between two neighbors in a judicial case of undue appropriation of cattle offspring from five alleged Holstein sires. Five offspring were genotyped using ten genetic markers (nine microsatellites and the BOLA-DRB3 locus). The computer program CERVUS was used to estimate the LOD score values and the confidence of paternity assignments. The results presented here show that three out of five paternity cases were assigned at 95% of confidence to a single sire with a LOD score ranging from 2.53 to 3.55. A fourth male was assigned using its delta value. Finally, all alleged sires were excluded from the paternity of the fifth offspring, probably due to the existence of an non-sampled male in the studied population. We concluded that the likelihood-based approach, included into CERVUS program, was a powerful tool in cattle kinship analysis when dealing with judicial dispute particularly when the dam's genotype was absent, allowing the assignments of paternity at 95% level of confidence in situations usually used by dairy and beef cattle producers in Argentine (e.g., multi-sire pasture mating).     

Computer analysis of parentage in relation to maternity and paternity

General formulas for statistical calculations of parentage by means of blood group analysis are presented in relation to those of maternity and paternity. Based on these formulas, a computer program has been devised to calculate plausibilities, exclusion probabilities, and distributions of log (Y/X) of parentage for any blood groups. The program also gives numerical values of these quantities of maternity and paternity. The values of plausibility and exclusion probability are highest for parentage, and decrease in the order of paternity and maternity. Concerning the distribution of log (Y/X) for true families, a simple relation holds for the ratio of the mean value of log (Y/X) in parentage ap, to that in paternity af, and to that in maternity am as, ap: af: am = 1: 0.6: (0.6)2 This relation holds for all 14 blood groups examined.     

Correlation of paternity index with probability of exclusion and efficiency criteria of genetic markers for parternity testing

The statistical correlation between the chance of paternity exclusion and paternity index is explored to derive a new criterion of judging the efficiency of an array of genetic determinations for parentage diagnosis. The theoretical basis is illustrated with allele frequency data on genetic markers used in a paternity testing protocol to examine the possible effects of changing the genetic systems on the prospect of identifying fathers by genetic markers.     

亲权指数和个体识别似然比计算软件的开发与应用

目的建立计算亲子鉴定亲权指数(PI)和个体识别似然比(LR)的计算软件。方法依据相关行业规范和文献中给出的计算方法,利用计算机语言Visual Basic 6.0编写程序。结果开发出适用于PI和LR的计算软件。结论该计算软件可以帮助工作人员提高计算效率,服务法医物证工作。     

Is he or is he not the father?: Pros,Cons effect of following standardized interpretations

Parentage studies in the Lebanese population, which has consanguineous marriage rates ranging from 32% up to 44% and endogamy average of 82%, could be prone to high levels of uncertainty since individuals involved in the parentage dispute may share alleles more than in random mating. Consequently, falsely alleged parents are less likely to exhibit allele mismatches with the child's genotype, in particular when the investigations is conducted in limited conditions such as Duo families and using low STR markers profile sizes. In the present study, ten informative paternity cases showing one mismatch were reevaluated. Different profiles (SGM, Identifiler, PP16HS or ESI 17 kits as well as 24 STR marker combination profile) were used throughout. Also, Duo cases were simulated out of the Trio cases. In several Duo cases, results shifted from non-parenthood to positive parentage conclusions when increasing STR markers from 12 to 16 and/or 24. However, no significant difference in the paternity conclusions could be observed for Trio families when using different profile sizes unless when using the SGM profile. When simulating Duo cases from Trio ones, compromising results were obtained under SGM, Identifiler, PP16HS and/or ESI 17 markers. All compromising cases were resolved under 24 markers. In conclusion, due to the effect of consanguinity and endogamy on the Lebanese population, we recommend the use of 24 STR markers DNA profile for any DNA interpretation, especially when accepting Duo cases requests.     

Two-man and two-sibling paternity cases.

Traditional genetic marker systems rarely fail to resolve paternity disputes when two or more men are accused, except when men are brothers. A sibling of the biologic father may not be excluded by these laboratory tests and sometimes yields calculated odds of paternity that are equal to or higher than the true male parent. Resolved two-brother cases were compared with resolved cases involving two unrelated men. In each case, the residual odds of paternity were determined for each man and the greater was divided by the lesser to produce a paternity fraction. The paternity fraction is a useful indicator of biologic parentage when it exceeds a value of 10 (log10 of-the-odds score greater than or equal to 1). Tests for alleles at highly heterozygous loci are indicated in initial laboratory evaluations of cases involving brothers. Human leukocyte antigen and variable number of tandem repeat polymorphisms appear suitable.     

Selection of twenty-four highly informative SNP markers for human identification and paternity analysis in Koreans

A number of DNA marker types suitable for human identification and parentage testing have been developed, of which single nucleotide polymorphisms (SNPs) merit attention as they are abundant, genetically stable, and amenable to high-throughput automated analysis. In this regard, 24 highly informative SNP markers representing each 22 autosome and both sex chromosomes were selected, and the allele and genotype frequencies of these SNPs were determined in a group composed of 30 unrelated Koreans. Based on frequency data from this group, the estimated probability of identity (P(I)) and probability of paternity exclusion (P(E)) with 22 autosomal SNP loci were 1.905x10(-10) and 98.9%, respectively. The SNPs in this study offer a small but highly accurate database that will be an essential reference for SNP-based forensic application in the future.     

Results of the 2008 Colombian paternity testing quality control exercise

The Reference National Laboratory, Genes Ltda, designated by the Commission of Accreditation and Alertness created by Law 721 of 2001 of Republic of Colombia, organized and coordinated the Quality Control Exercise of 2008 for laboratories undertaking paternity and maternity tests with DNA markers. The Quality Control Exercise included both practical and theoretical exercises. For the practical exercise, three blood samples in FTA Classic Card were sent to each participating laboratory to be genotyped for DNA markers using the routine methodologies in their laboratories. For the theoretical exercise, it was asked to the participating laboratories to calculate the partial and final paternity indexes based on two genetic profiles of an alleged biological father and his son. Allele frequencies were made available to the participants, as well as Y chromosome haplotype database. A total of 12 laboratories have participated with data from 57 STRs, including autosomal and sex chromosome markers. Consensus was found in 37 STRs, 21 in autosomes and 16 Y chromosome linked. The rate of reporting errors was 3.1% (concentrated in just one laboratory). The theoretical exercise had consensus.     

单亲案亲权鉴定结果判定策略

目的探讨用STR基因座进行单亲鉴定出现矛盾基因座时下结论的策略。方法根据基因频率和遗传规律,推导单亲案亲权鉴定时的非父排除率。根据平均单亲非父排除率和平均突变率,用二项分布公式分别计算出现不同数目矛盾基因座时真父和假父的概率和似然率(亲权指数)。结果对STR共显性基因座,其单亲非父排除率的计算公式为:PEM=∑i=n1pi2(1-pi)2 ∑i相似文献   

Supplementary markers for deficient immigration cases: Additional STRs or SNPs?

Analysis with commonly available STR kits can sometimes fail to produce sufficient information in immigration cases containing only one parent. In these cases, not only does paternity/maternity need to be assured, but also other possible relationships dismissed (e.g. avuncular relationships).We have taken more than 50 of these cases and investigated which type of additional marker produces the greatest benefits: 48 SNPs or 6 additional informative STRs (including 5 additional markers from the new European extended set). The results of this analysis show the SNPs to be of greater value.     

The application of minisatellite variant repeat mapping by PCR (MVR-PCR) in a paternity case showing false exclusion due to STR mutation

A boy and a girl with their mother brought a paternity suit against an alleged but deceased father. We tested six conventional genetic markers, the AmpliType PM+ DQA1 and twelve STR loci the children and mother together with the alleged paternal grandparents. We also DNA typed the bloodstain found later in the alleged father's medical record. Only the result at D3S1358 in a nineplex STR system excluded the alleged father from parentage of the boy, whereas all markers were inclusive for the girl. Accordingly, we performed sequence analysis at D3S1358 to confirm the presence of a paternal exclusion or mutation. The sequence analysis indicated that the boy's allele 17 could have originated from either of the alleged father's allele 16 or 18 by a single-step mutation associated with slippage mutation in STR loci. We carried out minisatellite variant repeat mapping by PCR (MVR-PCR) at loci D1S8 (MS32) and D7S21 (MS31A) and mapped allele haplotypes of all individuals except the deceased alleged father. The MVR-PCR analysis showed that the boy has no inconsistency with the relationship between the alleged grandparents, and was very effective at increasing the paternity index (PI) value. We conclude that there is biological relationship between not only the girl but also the boy and the alleged father.     

Minisequencing-based genotyping of Duffy and ABO blood groups for forensic purposes

Duffy and ABO blood group genetic polymorphisms were studied by minisequencing analysis of single-nucleotide polymorphisms (SNPs) at nucleotide positions--33, 125, 265, and 298 of the Duffy gene and at nucleotide positions-261, 297, 467, 646, and 703 of the ABO gene. In an Italian population sample, we found four alleles and seven genotypes for the Duffy and six alleles and 16 genotypes for the ABO systems. The lower limit for reproducible results was 200 pg DNA, with a range of up to 10 ng and an optimum at 1 ng. All of the 16 analyzed inclusive paternity tests were also consistent with parentage and two out of four inconsistencies with parentage cases were excluded by one or more SNPs. Although Duffy and ABO SNP typing show lower informativeness than most current forensic tests, their robustness, the limited population distribution of FY* Fy type, and the sensitivity of the minisequencing technology suggest that these markers can be useful in selected forensic applications.     

Population studies and validation of paternity determinations by six microsatellite loci

A single locus system of 6 microsatellite markers was evaluated for paternity testing. A nonradioactive method based on peroxidase labeling of a DNA probe was used to estimate the allele frequency of markers D1S216, D3S1217, D7S480, D9S157, D13S153, and D16S422 by genotyping 1134-1698 chromosomes. The number of detected alleles were 22, 15, 23, 10, 16, and 19, respectively, and the allele frequency varied from 0.001 to 0.317. The genotype of 87 families, consisting of mother, father, and child was determined. The probability that a random individual will give a positive paternity was evaluated. We conclude that the markers can be reliably typed and give sufficient and reliable information for paternity testing.     

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。     

论血缘主义在确定亲子关系时的修正与限制

婚姻法上决定自然血亲的亲子关系的指导原理是血缘主义原则。但在某些情形下若彻底推行此原则反而可能招致对国家、社会或当事人的不利,因而应受到某些修正或限制。从各国婚姻法在自然血亲的亲子关系的确定方法上所设立的婚生推定和非婚生子女的认领及准正等方法模式中,可以窥知血缘主义在确定亲子关系时仍然要受到某些主观主义的限制。为谋求亲子关系的稳定,尤其为保障子女利益的需要,不得不在一定情形下承认没有血缘关系的“亲子”为法律上的亲子关系,有血缘关系的亲子却不是法律上的亲子关系。     

亲子鉴定诉讼中的检查协助义务

从一个案例引出目前我国亲子鉴定中检查协助义务存在的司法困境,同时对我国现行关于亲子鉴定中检查协助义务的现状和相关的法条进行梳理分析,借鉴其他国家对亲子鉴定诉讼中的检查协助义务的立法经验并结合自身从事司法鉴定工作的实践,深入探讨在亲子鉴定中检查协助义务中应当注意的相关问题,提出对我国亲子鉴定中的协助义务进一步完善的初步构想.     

Study on the application of parent-of-origin specific DNA methylation markers to forensic genetics

In paternity test, especially in motherless cases, the allele inherited from father (obligatory gene, OG) often cannot be determined. The paternity exclusion probability (PE) of a genetic marker is reduced considerably. Therefore, it is necessary to develop a new technique, by which the parental origin of alleles can be determined without genealogical analysis. In this paper, we explored the possibility of using parent-of-origin specific DNA methylation markers to determine the parental origin of alleles, choosing the imprinted single nucleotide polymorphism (SNP) locus rs220028 (A/G) as a model system. We typed the SNP by mutagenically separated PCR (MS-PCR). The frequencies of alleles were A = 0.5085, G = 0.4915; the unbiased heterozygosity was 0.5020. In order to discriminate between the maternal allele and paternal allele, post-digestion MS-PCR, a novel PCR based methylation analysis and SNP typing technique was developed and performed on 18 heterozygous children, and the methylated maternal allele was detected specifically. As a pilot study on the use of epigenetic markers in forensic genetics, our results demonstrated the feasibility of using parent-of-origin specific DNA methylation markers to determine the parental origin of alleles.     

Population genetic data of 38 autosomal InDels in San Basilio de Palenque,the first free town in America

In order to increase the information about Indels, we report allele frequencies and statistical parameters of forensic efficiency obtained typing a sample of 114 unrelated healthy individuals living in San Basilio de Palenque – Colombia using a panel of 38 autosomal InDels. No significant deviations from Hardy–Weinberg expectations were found except in the marker rs10629077 (p = 0.0002). The present database will be useful for forensic and paternity purposes for the region studied. Moreover, these additional markers can help forensic laboratories to solve parentage testing as well as to improve the analysis of degraded DNA samples.     

北京汉族21个STR基因座的群体遗传学调查与法医应用评价

目的调查459例北京汉族无关个体21个常染色体非CODIS的STR基因座遗传多态性并评价其应用价值。方法用AGCU21＋1荧光标记复合扩增系统对459例无关个体的21个STR基因座（D6S474、D12SATA63、D22S1045、D10S1248、D1S1677、D11S4463、D1S1627、D3S4529、D2S441、D6S1017、D4S2408、D19S433、D17S1301、D1GATA113、D18S853、D20S482、D14S1434、D9S1122、D2S1776、D10S1435、D5S2500）进行检验。得到STR分型后,用相关软件进行统计分析并计算法医学应用参数。结果获得21个STR基因座的频率分布;相关参数为：H值从0.5894-0.8038,PD值从0.7898-0.9265,PE3值从0.3618-0.6029,PE2值从0.2031-0.4256,PIC值从0.5638到0.7640。结论联合应用Identifiler系统和AGCU21＋1系统,有利于亲子关系的认定及对可疑突变的判断。     

Usefulness of conventional blood groups, DNA-minisatellites, and short tandem repeat polymorphisms in paternity testing: a comparison.

A total of 215 paternity cases were analysed after testing 24 marker systems. Despite technical advantages of polymerase chain reaction related polymorphisms (automatisation, employment of robots, lesser requirements concerning of quality and quantity of DNA) it could be shown that the exclusive employment of a parentage testing kit is compromised by an increased risk of erroneous conclusions. It is estimated that in about 3-4% of the cases ambiguous situations have to be expected which are caused by the occurrence of single or double exclusions. In these cases it is impossible to decide whether the exclusions indicate either true nonpaternity or a de novo mutation. The situation might become even more complicated if an involvement of a close relative of the alleged father cannot be ruled out. We cautiously advance the hypothesis that in parentage testing DNA minisatellite polymorphisms from an optimal set of tools.