Hypervariable regions of DNA for parentage testing and individual identification

Four kinds of DNA probes that recognize hypervariable regions (HVR) were studied for parentage testing and individual identification. Allele frequencies and their confidence intervals among unrelated Japanese individuals were obtained. Codominant segregation of the polymorphism was confirmed in family studies. Two a priori probabilities were calculated for each HVR locus: the exclusion probabilities for an alleged father/mother/child trio and for an alleged parent/child duo, and the probabilities of matching of genotypes of two unrelated individuals or two siblings. The ease of availability of the probes and their highly discriminating polymorphic patterns mean they could be very useful for forensic purposes.     

Possible pitfalls in motherless paternity analysis with related putative fathers

Nowadays, more and more paternity cases are carried out investigating only child and putative father, mostly for economical or private reasons. Usually, reliable results can be obtained and the putative father can be included or ruled out with a high certainty. Considerable problems might arise when a relative of the biological father is investigated as being the putative father. In this study, we investigated 164 persons from 27 families creating artificial deficiency cases using the AmpFlSTRIdentifiler kit, which amplifies 15 STRs simultaneously. We analyzed 93 child/biological father pairs and the corresponding uncles, respectively the brothers of the biological fathers. The average paternity probability for the biological father was 99.9699% (paternity index (PI): 3321.26); only in three cases the results were under 99.9%. In five out of 125 child/uncle pairs no STR mismatches were found and paternity probabilities between 99.9726% (PI 3652) and 99.9970% (PI 33,545) were calculated. The average number of excluding loci was 3.4, but in 31.2% of the cases only zero, one or two mismatches were found. When both putative fathers were genetically typed, the biological father usually had a statistically higher paternity probability. Nevertheless, the differences between probabilities for father and uncle were only small. These results show that a reliable investigation of deficiency cases (i.e. child and putative father) seems to be more difficult than generally assumed. Especially in cases with an unknown familiar background and/or when investigating foreigners for immigration purposes, the laboratory expert should include the mother, increase the number of investigated loci or include a second method such as RFLP-analysis, some serological systems or typing of X-chromosome specific STRs to further ascertain the results.     

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.     

Deduction of paternity index from DNA mixture

Determination of individual genotypes in DNA mixture remains a challenge in forensic science. Using an approach of mixture of distributions, this article provides formula for calculation of paternity index (PI) in cases where only tissue mixture of the mother and alleged father, the genotypes of the mother and child, but not that of the alleged father are available. The formula has been used to solve a real case using mother's vaginal tissue contaminated with semen from alleged father.     

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.     

Corporal Punishment and Kids: How Do Parent Support and Gender Influence Child Adjustment?

Previous research on corporal punishment has failed to consider the interaction of parent support and parent gender in predicting child outcomes. The current study examined whether parental support moderated the effects of corporal punishment on child outcomes (i.e., depression and aggression), and more specifically, whether the gender of the supportive parent moderated the effects of punishment from the opposite-sex parent. Results differed depending on the gender of the punishing and supportive parents, suggesting that parental support can be a protective factor in child outcomes but only under certain conditions. Mother support moderated the effects of father punishment on child depression but not child aggression. High corporal punishment by father was related to more child depression at both high and low levels of mother support. High levels of mother support only seemed important (i.e., children were less depressed) at low levels of father corporal punishment. In contrast, father support moderated the relationship between mother corporal punishment and child aggression but not depression. Children with high father support showed less aggression across all levels of mother corporal punishment. At low levels of father support, child aggression increased as mother corporal punishment increased. For depression, mother corporal punishment was positively related to child depression regardless of level of father support. These findings suggest differential effects for mother and father support and have implications for the treatment and prevention of negative outcomes in children who are physically punished by their parents.

Mutation in the STR locus D21S1 1 of father causing allele mismatch in the child

We analyzed a case of paternity dispute with 15 autosomal STR loci and found a mismatch in one of the alleles of the locus D21S11 in the child. The composition of the alleles of this locus in the mother, suspicious father, and child were 29/32, 29/29, and 29/30, respectively. The combined paternity index (2.4 x 10(10)) and paternity probability (0.9999) suggest that the suspicious father is the biological father of the child. Further analysis of 6 Y chromosome STR loci revealed matching of all the Y chromosomal alleles of the child with that of the suspicious father. Since there was a perfect match of all the paternal alleles inherited (15 autosomal and 6 Y chromosomal) in the child with that of the suspicious father except the allele D21S11, it is suggested that this might be a case of mutation. Cloning and sequencing of all the alleles of the locus D21S11 of the suspicious father, mother, and the child helped in determining that the suspicious father contributed the mutated allele.     

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.     

PCR扩增SON基因3’非编码区进行种属鉴定

根据人 DNA的 SON基因碱基序列选择性设计一对特异性引物 ,并对人和猕猴、阿拉伯狒狒、猪、牛、羊、马、驴、骡、狗、猫、兔、大白鼠、小白鼠、豚鼠等 14种哺乳类动物染色体 DNA的 SON基因 3’非编码区中的种属特异性区域进行 PCR扩增 ,扩增产物经 SSCP分离银染色技术检测 ,观察到人和 14种哺乳类动物的 SSCP图谱有明显不同。本方法可以对人和上述 14种哺乳类动物进行种属鉴定 ,适合于法医学种属鉴定的应用     

Combining autosomal and Y-chromosomal short tandem repeat data in paternity testing with male child: methods and application

Paternity testing is being increasingly requested with the aim of challenging presumptive fatherhood. The ability to establish the biological father is usually based on the genotyping of autosomal short tandem repeat (STR) in alleged father, mother and child, but the use of Y-chromosomal STR has gained interest in the last few years. In this work, we propose a new probabilistic approach that combines autosomal and Y-chromosomal STR data in paternity testing with father/son pairs taking into account mutation events. We also suggest a new two-stage approach where we first type Y-STRs and possibly autosomal STR for the putative father and son, conditional on Y-STR results. We applied this approach to 22 cases. Our results show that Y-STRs can identify nonpaternity cases with high accuracy but need to be validated with autosomal STR to establish paternity. Moreover, the two-stage approach is less costly than the standard approach and is very useful in motherless cases.     

PCR-RFLP在mtDNA多态性分析中的应用

目的探讨PCR-RFLP法在mtDNA多态性分析中的应用价值。方法应用限制酶RsaI和MnlI消化mtDNA D-LOOP区（HVI16106～16297）PCR扩增产物,聚丙烯凝胶电泳进行RFLP分型,对不同PCR-RFLP分型扩增产物进行测序,并对150例辽宁汉族随机个体及30例真三联家系血样进行检验。结果在150例随机个体中,RsaI和MnlI酶切分别发现3和8种表型,DNA测序结果和PAGE分型结果一致,GD值分别为0.107,0.670。联合两种酶切,发现12种表型,GD值为0.708。在30个家系中,母子的RFLP带型完全相同。结论 PCR-RFLP法适合在基层实验室mtDNA分析中应用。     

Parentage of Hydatidiform Moles

We were presented with the STR (short tandem repeat) profiles from two separate paternity trios. Each trio consisted of a mother, an alleged father, and products of conception (POC) that contained a hydatidiform mole but no visible fetus. In both cases , antecedent pregnancies had followed alleged sexual assaults. Mole classification and pathogenesis are described in order to explain the analyses and statistical reasoning used in each case. One mole exhibited several loci with two different paternal alleles, indicating it was a dispermic (heterozygous) mole. Maternal decidua contaminated the POC, preventing the identification of paternal obligate alleles (POAs) at some loci. The other mole exhibited only one paternal allele/locus at all loci and no maternal alleles, indicating it was a diandric and diploid (homozygous) mole. In each case, traditional calculations were used to determine paternity indices (PIs) at loci that exhibited one paternal allele/locus. PIs at mole loci with two different paternal alleles/locus were calculated from formulas first used for child chimeras that are always dispermic. Combined paternity indices in both mole cases strongly supported the paternity of each suspect.     

Relitigation after contested custody and visitation evaluations

Relitigation of custody, visitation, and child support during a two-year period was used as a measure of postdivorce adjustment. A sample of highly adversarial families (n = 58) referred for a court-ordered psychiatric evaluation as part of a contested divorce custody or visitation action was compared to control samples of mother custody (n = 43), father custody (n = 30), and joint custody (n = 54) families in which custody was not contested. Nineteen percent of adversarial families evaluated predivorce relitigated custody, a significantly higher rate than control families. Mother custody cases had a higher rate of relitigation over child support than did father or joint custody arrangements. Joint custody controls had approximately the same rate of relitigation of custody as did father custody and mother custody controls. A sample of families referred for evaluation of a postdivorce custody or visitation dispute (n = 46) had a higher rate of relitigation of problems regarding visitation than did a control sample of postdivorce families (n = 36). Possible explanations for these findings are discussed.     

Establishing paternity using minisatellite DNA probes when the putative father is unavailable for testing

A paternity case involving a putative father who had died a few years earlier in an automobile accident was referred to the laboratory for testing. The child and his mother, the deceased's parents, and nine of the deceased's siblings were available for analysis. As previously reported, paternity testing using red blood cell groups, human leukocyte antigens (HLA), red blood cell enzymes, serum proteins, and immunoglobulin allotypes gave a cumulative paternity index of 43,300 and a combined probability of paternity equal to 99.998%. RFLP analysis using Hinf I and Sau 3A single digests and the minisatellite deoxyribonucleic acid (DNA) probes 15.1.11.4 and 6.3 showed no exclusion of paternity and gave nearly conclusive evidence that the putative father was the biological father of the child.     

Intimate Partner Violence and Child Adjustment: Moderation by Father Contact?

Little is currently known about father-child contact in families with histories of intimate partner violence (IPV), despite important implications of father contact for these families. The current study of 219 ethnically diverse children aged 6 to 12-years-old and their abused mothers examined relations between father contact, IPV, and children’s internalizing and externalizing problems. Approximately 30 % of the children had no current in-person contact with their father, while another 15 % saw their father every day of the past year. Child internalizing and externalizing problems were positively correlated with frequency of IPV, but unrelated to father contact. Controlling for marital status and mother education, father contact moderated relations between IPV and child externalizing, but not internalizing problems. While father contact was not associated with child adjustment across the entire sample, it did moderate relations between IPV and child behavior problems, suggesting that child contact with a less violent or nonviolent father or father figure might have a buffering effect on behavior problems in children exposed to IPV. Recommendations around father contact in families with IPV are discussed.     

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.     

EFFECTS OF FATHER AND MOTHER PARENTING ON CHILDREN'S MENTAL HEALTH IN HIGH‐ AND LOW‐CONFLICT DIVORCES

This article studied the relations of children's mental health problems to the warmth of their relationship with their noncustodial father and custodial mother and the level of conflict between the parents. Using a sample of 182 divorcing families, multiple regression was used to test the independent effect of father warmth, mother warmth, and interparental conflict. Results indicated that father warmth and mother warmth were both independently related to lower child‐externalizing problems. However, the relations between mother and child warmth and child‐internalizing problems were different as a function of interparental conflict and level of warmth with the other parent. Implications for court practices and policies are discussed.     

Paternity analysis in deficiency cases with related putative fathers: simulation of a deficiency analysis in 27 families

During the last few years, the number of privately ordered paternity investigations has increased considerably. Probably due to financial reasons in more and more cases only the putative father and the child are investigated. Additionally, very often only one method, such as STR analysis, is employed. This raises the question whether such a reduced analysis leads to reliable and clear results when investigating cases with related putative fathers. We investigated 165 individuals from 27 families using the AmpFlSTRIdentifiler multiplex PCR and calculated the paternity probabilities of the children to their biological fathers, uncles, grand fathers and other relatives. In more than 30% less than three exclusions between child and relative were detected. In five cases no exclusions were found between child and uncle, always leading to paternity probabilities >99.9%. These results show that the calculation of high probabilities (>99.9%) does not necessarily lead to the accurate conclusion of fatherhood. In many of our cases misleadingly the brother of the real father or another close relative would have been declared to be the biological father.     

亲权指数计算的新方法

目的介绍一种亲权指数（paternity index,PI）计算的新方法。方法假定亲代的等位基因都要经过一个转变的过程才发生分离并遗传给子代。每个亲代的等位基因与子代相同时,其转变概率为1;当不相同时,其转变概率为0。且每个亲代的等位基因都有1/2的机会遗传给子代。据此,可以计算出孩子从争议父或母亲获得等位基因的概率。而随机男子提供等位基因给孩子的概率为等位基因频率。相应地算出PI值公式中的分子（X）和分母（Y）值。结果推导得到了一个能够计算三联体、二联体和失踪孩子案PI值的通用计算公式。结论本PI计算公式在亲子鉴定PI值计算上具有实用价值。