Biostatistical evaluation of HLA-A, B findings in cases with suspected recombination

In a given case with two or more siblings the bloodgroup findings may yield a high plausibility of paternity for the alleged father of the children whilst the HLA-A,B characteristics may exhibit an exclusion of fatherhood of one or other of the siblings. But this "exclusion" may disappear assuming an HLA-A,B recombination of a father's (or mother's) gamete. In such cases simple calculations (i.e., by hand) can provide the serostatistical characteristic L = Y/X (after Essen-M?ller) for the given HLA-A,B constellation. In two-child cases with HLA-A,B findings for the putative father, the two pedigrees for the counterhypothesis Y are Yg1 and Yg2. The one holds for the case where the putative father is the father of child 1 and the other for the case where he is the father of child 2; in each case an unknown man is the father of the other child. The likelihood ratio is calculated as follows: L = Y/X = 1/r.p(3,3).p(3,4).[p(4,4) + p(4,3)]/[p(3,3).p(4,4) + p(3,4).p(4,3)], where p(3,3) and p(4,4) are the frequencies of the putative father's HLA-A,B haplotypes in the pedigree YH1, p(3,4) and p(4,3) those in pedigree YH2, and where r is the recombination rate. In three-child cases and others in which the putative father is deceased and HLA results from legitimate children or siblings are available, and in which fatherhood is only possible if a recombinant haplotype interferes, only one counter-hypothesis exists. In these cases, the likelihood ratio is represented by L = Y/X = 2/r.p(HR).2I, where p(HR) means the frequency of the recombinant HLA-A,B haplotype, r the recombination rate and I(0, 1 or 2) the "difference in determined types."     

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.     

中国汉族人群中Dia抗原和Dib抗原的分子遗传分析

目的研究中国汉族人群Diego血型系统中Dia和Dib抗原表达的分子遗传背景。方法采用血型血清学方法对2990例非血缘关系的捐血者进行Diego血型鉴定,从中随机选择20例表现型为Di(a-b )的样本,以及筛选到的所有Di(a b-)稀有血型样本,采用PCR-SSP、DNA直接测序方法分析Diego血型基因的分子遗传背景。结果2990例捐血者中,发现Di(a b-)表现型2例,Di(a b )167例,Di(a-b )2821例。随机选择的20例表现型为Di(a-b )的DNA样本,经PCR-SSP法检测的基因型为DI2DI2,对DI基因第19外显子直接测序,2561位上碱基为C。2例稀有血型Di(a b-)的DNA序列在19外显子2561位上碱基为T,基因型为DI1DI1。结论中国汉族人群Dia和Dib抗原表达的分子遗传基础是DI基因第19外显子2561位上碱基T-C的置换,引起第854位氨基酸的改变。     

The problem of single parent/child paternity analysis--practical results involving 336 children and 348 unrelated men

In a certain amount of paternity investigations, only DNA from child and alleged father is analyzed, thus increasing the possibility of false paternity inclusions. The aim of this study was to determine how many wrong paternity inclusions could be detected in a rather small geographical area comparing empirical results from 336 children and 348 men (13-15 STRs were investigated per person). This comparison between each child and all unrelated men (i.e. all putative fathers from the other cases) with an especially designed computer program resulted in 116,004 man/child pairs. Less than three excluding STRs were found in 1666 child/unrelated man pairs (1.44% of the comparisons). At least one unrelated man with only two or less STR mismatches could be determined for 322 children (95.8% of all investigated children). In 26 comparisons no STR mismatches between a child and an unrelated man were detected, thus at least one and up to three "second father(s)" under 350 men could be found for 23 children, if the mother is excluded. Paternity probabilities between 95.475% and 99.996% were calculated. Our results underline the difficulties in motherless paternity cases using only STR analysis and advise great precaution in assigning verbal predicates such as "paternity proven" in those investigations.     

An examination of dependence power, father involvement, and judgments about violence in an at-risk community sample of mothers

Individuals sometimes remain in dysfunctional, and even violent, relationships due to a perceived dependence on a partner. We examined the influence of dependence power judgments (defined by a combined assessment of mother commitment, perceived father commitment, and perceived father alternatives) in a community sample of mothers potentially bound to a relationship with the father of her child. We also considered the influence of perceived father involvement in the child's life on judgments related to dependence power. Using a survey design with a sample of 100 mothers (age: 16-43, M = 29.16, SD = 7.17 years old) enrolled in a local Early Head Start/Head Start program, we observed that a mother's perceived father involvement was positively associated with judgments of her dependence power. Furthermore, we observed that her assessment of dependence power was negatively associated with her tolerance for both physical and psychological violence as well as the use of destructive child discipline tactics.     

HIV-positive child made ward of court after father refuses treatment with antiretroviral drugs

In 1999, we reported a number of cases in Canada, the US, and the UK in which child-welfare authorities have disputed parents' decisions to refuse HIV testing or treatment for their children. This article reports on new developments in one of those cases. On 10 May 2002, the English High Court heard submissions regarding the future of a three- year-old HIV-positive girl who was made a ward of the court after her father refused to allow her to be treated with antiretroviral drugs.     

WHO'S YOUR DADDY?: THE INHERENT UNFAIRNESS OF THE MARITAL PRESUMPTION FOR CHILDREN OF UNMARRIED PARENTS*

Many states have marital presumptions of legitimacy, which provide children born to married parents with protection against paternity lawsuits questioning their legitimacy. However, most states do not have legitimacy presumption statutes for unmarried couples. This lack of equality between married and unmarried couples makes it so that children born to unmarried parents, who have developed a psychological bond with a man they have always thought to be their father, are not afforded the same protection as other children in similar situations, simply because their parents were not married at the time of their birth. Therefore, this Note advocates for states to amend their paternity statutes to provide protection against nonpaternity lawsuits to psychological fathers and their psychological children. State statutes should provide a psychological father with the right to be declared the legal parent of his psychological child in cases where the child's legal father has been substantially absent from the child's life.     

Molecular Autopsy of Desmosomal Protein Plakophilin‐2 in Sudden Unexplained Nocturnal Death Syndrome

Plakophilin‐2 (PKP2) variants could produce a phenotype of Brugada syndrome (BrS), which seems to be most likely the same allelic disorder as some sudden unexplained nocturnal death syndrome (SUNDS). All coding regions of PKP2 gene in 119 SUNDS victims were genetically screened using PCR and direct Sanger sequencing methods. Three novel mutations (p.Ala159Thr, p.Val200Val, and p.Gly265Glu), one novel rare polymorphism (p.Thr723Thr), and eight reported polymorphisms were identified. A compound mutation (p.Ala159Thr and p.Gly265Glu) and a rare polymorphism (p.Thr723Thr) were found in one SUNDS case with absence of the cardiomyopathic features. The detected compound mutation identified in this first investigation of PKP2 genetic phenotype in SUNDS is regarded as the plausible genetic cause of this SUNDS case. The rare incidence of PKP2 mutation in SUNDS (1%) supports the previous viewpoint that SUNDS is most likely an allelic disorder as BrS.     

北京地区人群血清型α2HS频率调查与血痕中α2HS的检测

本文采用聚丙烯酰胺凝胶等电聚焦和免疫固定技术,调查北京地区随机人群的α2HS糖蛋白(α2HS)的频率分布。在185名无亲缘关系的健康人中,发现3种常见表型,即α2HS1-1型(99人)、2-1型(74人)、2-2型12人。未发现稀有型。基因频率为:α2HS~1=0.7351,α2HS~2=0.6490。室温中保存6个月的血痕,可检出其α2HS表型。     

When Children are the Least Vulnerable to False Memories: A True Report or a Case of Autosuggestion?

In this case report, a legal case revolving around the reliability of statements given by a 6‐year‐old girl is described. She claimed to have witnessed her mother being murdered by her father. Two psychological experts provided diametrically opposed opinions about the reliability of her statements. One expert, a clinician, opined that the girl's statements were based on autosuggestion whereas the other expert, a memory researcher, stated that autosuggestion was unlikely to have played a role. This case and the analysis of the experts' opinions illustrate what may happen when experts in court are unaware of the recent literature on (false) memory. That is, recent studies show that autosuggestion is less likely to occur in young children than in older children and adults. The current case stresses the importance and implications of relying on memory experts in cases concerning the reliability of eyewitness statements.     

Parenthood in Murder‐Suicide News. Idealized Fathers and Murderous Mums

In this article I analyse how parents' lethal violence is presented in Finnish murder‐suicide news reports. I explore how gendered ideas of parenthood and violence affect these constructions. The cases that I am interested in are those with child victims where the perpetrator is either the father or the mother. The theoretical frame of analysis is feminist ethnomethodology, and Membership Categorization Analysis is used as the method. One of the starting‐points is that parenthood is gendered in a way that mothers and fathers have different rights, responsibilities and competences in our culture. In other words, moral orders of fathering and mothering exist. Because of this, women's and men's violent actions towards their own children are understood differently. When a man kills his children and himself he can be portrayed as a caring parent. Instead, in a certain context a woman can be ‘a killer mum’, her act ‘a murder’ and her personality described in the light of the deed. The focus of this article is on gender and family categorization used in murder‐suicide news in Finnish newspapers and the moral orders created in them. I explore the differences by mainly using two case examples: 1) a man who killed his three children and himself, and 2) a woman who killed her husband, two children and herself. The consequences of these newspaper constructions are also considered.     

Children’s Allegations of Sexual Abuse: A Model for Forensic Assessment

It is important both clinically and forensically to gain information to provide an understanding of the veracity of a child’s allegations of sexual abuse. Even though it is reasonable to hypothesize that most allegations are true—children are not infallible and thus some allegations are false. A systematic model of pathways to false allegations—however rare or common—is important because so much depends on this question (i.e., both false positives and false negatives are harmful to children). We propose that there are two major pathways to false allegations of child sexual abuse: (1) the child is lying and (2) the child has a false memory due to his or her problems in information processing. We conclude by presenting a more detailed protocol for more formally evaluating these pathways to false allegations in specific cases.     

South Glamorgan County Council v. W and B

A Family Division English court held that a minor can be admitted to a psychiatric care facility against her wishes if it is in the best interest of the minor. The affected minor had been previously assessed by various psychiatrists and social workers after she had refused to attend school and begun to lead a reclusive life. Their recommendation had been that she be removed from her present home with her father and be admitted into an adolescent unit where she could receive psychological therapy. Following the divorce of her parents, the minor's temperament and mental health had seriously deteriorated. Although her father opposed these proceedings, her mother and her court appointed guardian both thought that psychiatric care was most appropriate for the minor. The court agreed, stating that the best interests of the child override any other considerations.     

Court Procedures

It has been said that “the court is the second trauma.” It might be better to say the system, rather than the court. The President's Task Force (page 51) recommends a federal study “to evaluate the juvenile justice system from the perspective of the victim.” The system may interview the child time and again, each time making her relive the experience, keeping the wound open. It may force her down to court waiting rooms where she sits uncomfortably without even the accoutrements of a dentist's office for hours and then often to be told that the case was continued and to come back next week. She may be put on a witness stand, in a big formal room, with what seems like a thousand eyes staring at her, and a bailiff in full uniform ready to lock her up, and a judge in a black robe towering above her. She may find that the newspapers and television are full of her name and pictures and stories about what happened to her which they obtained from the official records. And this may make her the focus of her classmates with all the brutal teasing that can involve. The system may also suddenly arrest her father and just as suddenly release him. It may plea bargain away her future hope of rehabilitation without even talking to her, in the name of speedy justice. The system is always more concerned with the well-being of the criminals than of the victims. When children are the victims, surely change can be made. Recommended by the President's Task Force (page 73), a starting point is to require “that judges at both the trial and appellate level(s) participate in a training program addressing the needs and legal interests of crime victims.”     

Further evidence of a silent plasminogen (PLG) allele in two paternity cases

Routine paternity testing has yielded two different cases of an apparent inverse homozygosity in the plasminogen (PLG) system. In one case, the child presented the phenotype PLG A and his putative father the type PLG B. The alleged father could not be excluded from the paternity in 25 additional blood group marker systems (biostatistical probability of paternity W greater than 99.75%). In the other case an incompatibility was found in a mother- child pair. Analysis of PLG was carried out by isoelectric focusing on neuraminidase-treated sera. In both cases the immunologic and functional detection showed weaker banding pattern of the affected PLG types. The assumption of a silent allele in the PLG system was confirmed by quantitative investigations. The allele frequency of PLG*Q0 in the South German population was estimated to be 0.0013. In the same sample the variant PLG A3 has been shown to be polymorphic.     

A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case

We report an unusual paternity test case showing multiple peculiarities. Using AmpFlSTR Profiler Plus and AmpFlSTR Identifiler PCR Amplification kits, the alleged father and the two children were apparently homozygous at the FGA locus, but using the PowerPlex 16 kit the three individuals were found to be heterozygous. Drop-out was caused by a single mutation event in the presumptive binding site of the reverse primer. In addition, three inconsistencies were detected between the daughter and the alleged father among 18 STR markers. The occurrence of the rare null allele at the FGA locus and case history suggested that the true father was the brother of the alleged father. Furthermore, a single-step repeat maternal mutation was also detected at D16S539. This puzzling case was solved by using multiple analytical approaches, including the use of different primer pairs, the use of a high number of STR markers, and the characterization of the mutation causing the "null allele."     

Murder-suicides involving children: a 29-year study

Review was undertaken from February 1969 to January 1998 at the State forensic science center (Forensic Science) in Adelaide, South Australia, of all cases of murder-suicide involving children <16 years of age. A total of 13 separate cases were identified involving 30 victims, all of whom were related to the perpetrators. There were 7 male and 6 female perpetrators (age range, 23-41 years; average, 31 years) consisting of 6 mothers, 6 father/husbands, and 1 uncle/son-in-law. The 30 victims consisted of 11 daughters, 11 sons, 1 niece, 1 mother-in-law, and 6 wives of the assailants. The 23 children were aged from 10 months to 15 years (average, 6.0 years). The 6 mothers murdered 9 children and no spouses, with 3 child survivors. The 6 fathers murdered 13 children and 6 wives, with 1 child survivor. This study has demonstrated a higher percentage of female perpetrators than other studies of murder-suicide. The methods of homicide and suicide used were generally less violent among the female perpetrators compared with male perpetrators. Fathers killed not only their children but also their wives, whereas mothers murdered only their children. These results suggest differences between murder-suicides that involve children and adult-only cases, and between cases in which the mother rather than the father is the perpetrator.     

LIFE AFTER DEATH: THE NEED TO ADDRESS THE LEGAL STATUS OF POSTHUMOUSLY CONCEIVED CHILDREN

The advance of reproductive technology, coupled with a legal system that cannot keep up, has had a detrimental effect on posthumously conceived children. There is controversy over whether a child conceived after the death of one parent, by way of reproductive technology, is considered a child of that parent for inheritance purposes. An overwhelming majority of state legislatures have not given consideration to the unique question that posthumously conceived children pose. Legislative inaction has forced state courts to apply antiquated laws in the midst of a technological revolution. The result: children are being denied inheritance rights to their deceased parent's estate solely because of the way they were conceived. This Note advocates that all children should be given the same rights and benefits regardless of how they are conceived. To accomplish that goal, this Note proposes a model state statute to be adopted in all states. The model statute deems a posthumously conceived child to be the child of his or her deceased parent, and thus entitled to inheritance rights, if 1) the posthumously conceived child was provided for by will, or 2) the deceased parent intended to be a parent; there is a genetic relationship between parent and child; the child is born within three years from the death of his or her deceased parent; and the child's best interest, balanced against the state's interests, exceeds the state's interest. The desired effect of the statute is to put posthumously conceived children on equal footing with naturally conceived children.     

DNA profile evidence in complex disputed paternity cases: The analysis of 300 real cases

In disputed paternity cases where the putative father is unavailable DNA from one or more of his relatives could be used. However, interpreting results is often difficult, because of the partial information regarding the parental genotype obtained from his relatives. We analyzed results obtained in 300 real paternity cases performed through close relatives of the real father (sib, half-sibs, one grandparent and/or uncle). DNA was typed with PowerPlex (Promega) and the LR estimated with the Software BDGen. As expected the higher LR values were achieved with sibs and half-sibs (in such cases where his/her mother was available for testing). The LR values were tight related to the number of uninformative loci, which varied between 0 and 13. In 10% of the reviewed cases, 10 or more non-informative loci were observed; all of them associated LR values below 0.01. Thus, providing evidence in favor of no relatedness.