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PubMed1999

[DNA polymorphism applied to paternity testing. Analysis of 877 cases].

Paternity testing is based on biological analyses that have drastically developed during the past 20 years. According to scientific developments, paternity testing was based on red blood groups studies, the analysis of red cell enzymes and plasma proteins polymorphisms, the typing of the HLA-A and B antigens, and the DNA polymorphism in its various forms. This study aims at comparing the various analyses so that each becomes a reference for the others, in order to determine (i) the acceptable level of the paternity probability evaluation, and (ii) the exclusion rules according to new technologies. The relative performances of the various combinations of tests is analyzed in this report, based on a study of 877 cases. Thanks to studies based on the gene amplification of micro-satellites, the efficiency of this technique has been proved: it is however necessary to identify the limits of the tests and to know how to deal with those cases which require further analysis. Beyond the most efficient biological analysis, it is very important to think about paternity testing as a process in which biological tests are only one step.

Adult↗
PubMed1999

Comparison of biochemical polymorphisms and short tandem repeat (STR) DNA markers for paternity testing in rhesus monkeys (Macaca mulatta).

Genetic markers are indispensable for molecular and statistical genetic research involving nonhuman primates. Genetic markers must be used to ascertain parentage and to confirm the accuracy of pedigrees based solely on housing or demographic records; otherwise, the results of pedigree, linkage, or quantitative genetic analyses may be unreliable. Until recently, most genetic markers used in nonhuman primates were plasma proteins or isozyme polymorphisms, which were required in large numbers, because levels of genetic variation revealed by these markers were rather low. We compared the newer, PCR-amplified short tandem repeat markers (STRs) with a panel of classical biochemical polymorphic markers, for paternity determination among captive-bred rhesus monkeys. The STR markers exhibited an average genetic diversity of 64% and an expected paternity exclusion probability of 0.443. Both of these were greater than the average 54.5% genetic diversity and 0.298 exclusion probability exhibited by the biochemical markers. The STRs were much more efficient than the biochemical markers for parentage determination, since they required only half the amount of genetic typing data to resolve an average paternity case. Thus, the results of applying these two classes of genetic markers in paternity tests were somewhat different than expected on the basis of theoretical exclusion probabilities. These differences were probably due to inbreeding and other genetic differences among breeding colonies. Because they are more informative and provide rapid and efficient genetic data, STRs are now the method of choice for parentage determination and pedigree corroboration among nonhuman primates.

Animals↗
PubMed1999

Estimations of the efficacy and reliability of paternity assignments from DNA microsatellite analysis of multiple-sire matings.

It is important for bovine DNA testing laboratories to provide the cattle industry with accurate estimates of the efficacy and reliability of DNA tests offered so that end users of this technology can adequately assess the cost-benefits of testing. To address these issues for bovine paternity testing, paternity exclusion probability estimates were obtained from breed panel data and were predictive of the efficacy of the DNA tests used in 39 multiple-sire mating groups, involving 5960 calves and 505 bulls. Paternity testing of these mating groups has demonstrated that the majority involve a variable proportion of unknown sires and this impacts on the reliability of sire allocation. Mathematical models based on binomial or beta-binomial probability distributions were used to estimate the reliability of single-sire allocations from multiple-sire matings involving unknown sires. Reliability of 98-99% is achieved when the exclusion probability is 0.99 or greater, after allowing for up to 20% unknown sires. When the exclusion probability drops below 0.90 and there are 20% unknown sires, the reliability is poor, bringing into question the benefits of testing. This highlights the need for DNA testing laboratories to offer paternity tests with an exclusion power of at least 99%.

Animals↗
PubMed2000

Paternity and gene dispersal in limber pine (Pinus flexilis James).

This study provides empirical information on intrapopulation gene dispersal via pollen, the size of genetic 'neighbourhoods', and interpopulation gene flow in a long-lived conifer, limber pine (Pinus flexilis). We used allozyme loci for a paternity analysis of 518 seeds produced in an isolated population of limber pine located in north-eastern Colorado, U.S.A., separated by 2 km from the nearest conspecific trees and nearly 100 km from populations in the Rocky Mountains. We also used indirect techniques (FST analyses) to estimate gene flow rates among subdivisions of the study population and among five widely separated populations. Within the main study population limber pine exhibited a polymorphism level of 50%, observed heterozygosity of 0.159, and 2.36 alleles per polymorphic locus. Mountain populations were slightly more variable. The main study population showed significant differentiation in allozymes among neighbouring subpopulations. The mean FST was 0.031 and the gene flow rate among subpopulations was estimated as 7.8 migrants per generation. Among widely separated populations the mean FST was 0.035 and the gene flow rate was estimated as 6.9 migrants per generation. The paternity analysis indicated a best estimate of 6.5% pollen immigration (minimum 1.1%) from populations 2 km to 100+ km away. For 4% of the seeds examined, paternity could be ascribed to a single tree in the study population. Fractional paternity and likelihood methods were used to estimate pollen dispersal distances for the remainder of the seeds. Mean pollen dispersal distance was estimated at 140 m using the fractional method, similar to results from the other techniques. This compares with a mean distance of 172 m between potential mates. These results suggest near-panmictic pollen dispersal over this population, which covers about 15 ha. The observed allozyme differences and surprisingly low estimates of among-subpopulation gene flow are ascribed to a probable restriction of gene dispersal by seeds.

Alleles↗
PubMed1997

Paternity assessment in wild groups of toque macaques Macaca sinica at Polonnaruwa, Sri Lanka using molecular markers.

Genetic variation at four microsatellite loci in conjunction with that at a highly variable allozyme locus was used to analyse paternity over a 12-year period in 13 social groups of toque macaques Macaca sinica inhabiting a natural forest in Polonnaruwa, Sri Lanka. Paternity exclusion analysis revealed that the set of offspring produced by a female usually consists of half-siblings because few males father more than one offspring with a particular female. No evidence of offspring produced by matings between first degree relatives was found. The social unit in toque macaques was not identical to the reproductive unit and the possibility of paternity by males outside the social group should be considered when estimating male reproductive output. Although it was common for multiple males to father offspring in a social group each year, reproduction within a group during a breeding season tended to be limited to a few males. The mean number of males reproducing per group per year was independent of the number of males in a group. The paternity data suggests that many males may father relatively few offspring during their entire lives and that the effective population size for toque macaques may be much smaller than indicated by demographic data.

Alleles↗
PubMed1997

Does changing paternity contribute to the risk of intrauterine growth retardation?

An immune reaction initiated by paternal antigens may be necessary for healthy placental development, pregnancy maintenance and infant growth. An inadequate immune response may result in intrauterine growth retardation (IUGR). We hypothesised that a change in paternity may interfere with the immune response and cause poor placentation with resultant IUGR. In this paper we examine the risk of IUGR associated with changes in paternity. We used the Utah Successive Pregnancies Data Set that contains information on women across their pregnancies. We restricted the analysis to 141,817 women with two or three pregnancies. Women who did not have an IUGR infant in the previous pregnancy were at a 20-30% greater risk of developing IUGR if they had changed partners. Women who had a previous IUGR infant were at no increased risk for IUGR after a change in paternity. These results may point to an immune mechanism or may be as a result of residual confounding of unmeasured risk factors for IUGR. Further studies with data that contain more sociodemographic and biological risk factors for IUGR are necessary to exclude residual confounding.

Birth Order↗
PubMed2002

Paternal occupational group and risk of offspring with neural tube defects.

Selected paternal occupations as well as specific occupational exposures to chemicals such as organic solvents have been suggested as possible risk factors for neural tube defects (NTD). We investigated data from a population-based, case-control study of fetuses and liveborn infants with NTDs among 1989-91 California births and fetal deaths. Interviews were conducted with mothers of 538 NTD cases and 539 non- malformed controls. Mothers were asked to report the occupations that the fathers had in the period 3 months before and 3 months after conception. Each job title and industry reported was coded in accordance with the 1990 US Census. Considering those fathers who worked in managerial and professional occupations as the reference group, elevated odds ratios (OR) for NTDs were observed for the categories: technical, sales and administrative, OR = 1.5 [95% confidence interval 1.0, 2.4]; service, OR = 2.0 [1.2, 3.1]; farming, forestry and fishing, OR = 2.1 [1.3, 3.3]; operators, fabricators and labourers, OR = 1.8 [1.2, 2.7]; and military, OR = 1.9 [0.7, 5.0]. Stratification by NTD phenotype revealed that these elevated ORs were primarily observed for spina bifida phenotypes. Analyses adjusted for maternal body mass index, maternal periconceptional use of multivitamins containing folic acid, paternal race/ethnicity, maternal race/ethnicity and maternal education revealed attenuated risk estimates for most of the occupational groups. Analyses of 182 more specific occupational groups defined by aggregating fathers on similar job titles, when compared with fathers who worked in managerial and professional occupations, revealed that four job title groups were associated with fairly precise effect estimates of >or=1.5. These groups were: cooks; janitors and cleaners; farm workers; and groundsmen/gardeners. Using occupational titles as defined in previous investigations, we did not observe an elevated OR associated with paternal occupational solvent exposures, OR = 0.8 [0.5, 1.3]. These analyses generated potential clues regarding paternal occupational exposures as NTD risk factors. Risk variation observed by spina bifida phenotype is interesting and will need to be investigated further.

Anencephaly↗
PubMedDate not supplied

Blood groups and genetic markers polymorphism and probability of paternity.

Recent advances in knowledge of blood groups' polymorphism provide aid to paternity diagnosis. When no exclusion is detected in any of the 20 or more systems available to the laboratory, validation of paternity is recommended. Two indices may be calculated: the proportion of males excluded by the phenotypes of the mother and child, and the probability of paternity of the alleged father. This latter index is based on bayesian process. The different formulations proposed by several authors are compared. The fact that a single exclusion in 20 or more systems needs to be denied or confirmed by indices of paternity is emphasized.

Bayes Theorem↗
PubMedDate not supplied

Limitations of paternity testing calculations.

A total of 252 black and white trios (mother, child, and putative father) in which the alleged father was known not to be the biological father (BF) were generated from paternity studies. The likelihood of paternity (W) and the paternity index (P) were calculated on the basis of ABO, Rh, MNS, and HLA phenotyping. The results were then reviewed to evaluate the arbitrary limits proposed by a number of states in recent paternity legislation. Two hundred forty-four of 252 non-fathers (NFs) (96.8%) were excluded. Of the 152 white NFs, 147 (96.7%) were excluded; 97 of the 100 blacks (97%) were excluded. Eight NFs could not be excluded by the routinely performed tests. The W value for those eight trios ranged from 1.2 to 98.8 percent. Based on limits proposed in legislation, had the NFs actually been alleged fathers, as many as four of the eight of these men could have had the burden of proving that they were not the BFs.

ABO Blood-Group System↗
PubMed2003

Paternal age >or=40 years: an important risk factor for infertility.

OBJECTIVE: The purpose of this study was to examine the risk of infertility that is associated with paternal age, because this factor rarely has been investigated, whereas maternal age of >or=35 years is a well-known risk factor. STUDY DESIGN: This large, retrospective, population-based sample included 6188 European women (from Denmark, Italy, Spain, Germany) aged 25 to 44 years who were selected randomly from census registers in 1991 through 1993. RESULTS: Among couples composed of a woman aged 35 to 39 years, risks were significantly higher when paternal age was >or=40 years than when paternal age was <40 years, with an adjusted odds ratio of 2.21 (95% CI, 1.13, 4.33) for delay in pregnancy onset (failure to conceive within 12 months) and of 3.02 (95% CI, 1.56, 5.85) for difficulties in having a baby (failure to conceive within 12 months or pregnancy not resulting in a live birth). CONCLUSION: Like maternal age of >or=35 years, paternal age of >or=40 years should be considered to be a key risk factor for infertility.

Adult↗
PubMed2001

Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques.

Kin selection promotes the evolution of social behavior that increases the survival and reproductive success of close relatives. Among primates, maternal kinship frequently coincides with a higher frequency of grooming and agonistic aiding, but the extent to which paternal kinship influences adult female social relationships has not yet been investigated. Here, we examine the effect of both maternal and paternal kinship, as well as age proximity, on affiliative interactions among semifree-ranging adult female rhesus macaques, Macaca mulatta. Kinship was assessed by using both microsatellites and DNA-fingerprinting. Our study confirms that the closest affiliative relationships characterize maternal half-sisters. We provide evidence that adult females are significantly more affiliative with paternal half-sisters than with nonkin. Furthermore, paternal kin discrimination was more pronounced among peers than among nonpeers, indicating that age proximity has an additional regulatory effect on affiliative interactions. We propose that kin discrimination among cercopithecine primates emerges from ontogenetic processes that involve phenotype matching based on shared behavioral traits, such as inherited personality profiles, rather than physiological or physical characteristics.

Age Factors↗
PubMed2001

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that apparently is lethal in male embryos. RTT almost exclusively affects female offspring and, in 99.5% of all cases, is sporadic and due to de novo mutations in the MECP2 gene. Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. We analyzed the parental origin of MECP2 mutations in sporadic cases of RTT, by analysis of linkage between the mutation in the MECP2 gene and intronic polymorphisms in 27 families with 15 different mutations, and we found a high predominance of mutations of paternal origin in 26 of 27 cases (P<.001). The paternal origin was independent of type of mutation and was found for single-base exchanges as well as for deletions. Parents were not of especially advanced age. We conclude that de novo mutations in RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female:male ratio observed in patients with RTT. Affected males recently have been described in a few cases of familial inheritance. Identification of the parental origin may be useful to distinguish between the sporadic form of RTT and a potentially familial form. This distinction will allow geneticists to offer more-specific counseling and discriminate between higher (maternal origin) and lower (paternal origin) recurrence risk.

Adult↗
PubMed2003

The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.

A paternal-age effect and the exclusive paternal origin of mutations have been reported in Apert syndrome (AS). As the incidence of sporadic AS births increases exponentially with paternal age, we hypothesized that the frequency of AS mutations in sperm would also increase. To determine the frequency of two common FGFR2 mutations in AS, we developed allele-specific peptide nucleic acid-PCR assays. Analyzing sperm DNA from 148 men, age 21-80 years, we showed that the number of sperm with mutations increased in the oldest age groups among men who did not have a child with AS. These older men were also more likely to have both mutations in their sperm. However, this age-related increase in mutation frequency was not sufficient to explain the AS-birth frequency. In contrast, the mutation frequency observed in men who were younger and had children with AS was significantly greater. In addition, our data suggest selection for sperm with specific mutations. Therefore, contributing factors to the paternal-age effect may include selection and a higher number of mutant sperm in a subset of men ascertained because they had a child with AS. No age-related increase in the frequency of these mutations was observed in leukocytes. Selection and/or quality-control mechanisms, including DNA repair and apoptosis, may contribute to the cell-type differences in mutation frequency.

Acrocephalosyndactylia↗
PubMed1980

Numerical expression of paternity test results using predetermined indexes.

Relative chance of paternity (RCP) is a numerical expression used to indicate either paternity (near 100%) or nonpaternity (0% or close to 0%). RCP is derived by converting the paternity index (PI) to a percentage, RCP = PI/(PI+1). PI represents the chance that the alleged father is or is not the father, and is expressed as a number for a given phenotype combination of the mother-child-alleged-father trio. These PI values have been determined and are listed in several tables. Thus, one can find in these tables the individual PI value for each genetic marker system for a given trio, multiply the numbers, and convert the combined PI value into RCP. In this way, a qualitative and quantitative report of a paternity testing can be readily derived.

Alleles↗
PubMed1980

Estimating paternity index from HLA-typing results.

A procedure is described for estimating the chance of paternity from HLA-typing results. Phenotypes consisting of HLA-A and HLA-B antigens are divided into four groups. For each group, formulas have been derived to calculate the chance of passing a specific haplotype; those for common phenotypes have been predetermined and compiled into concise tables. Consequently, the paternity index can be derived in four simple steps. In reporting, paternity index is best expressed in percentages as relative chance of paternity and nonpaternity. In this way, the positive and negative aspects of estimation are both spelled out.

Blood Grouping and Crossmatching↗
PubMed2005

Influence of paternal age on the risk of spontaneous abortion.

The frequency of chromosomal anomalies in spermatozoa appears to increase with male age. Because these anomalies play a role in the etiology of spontaneous abortion, an influence of paternal age on risk of spontaneous abortion is plausible but not established. The aim was to characterize this influence in a prospective study among 5,121 California women, who as members of a prepaid health plan were interviewed in 1990 or 1991 when they were less than 13 weeks' pregnant and who were followed until the end of pregnancy. The risk of spontaneous abortion between weeks 6 and 20 of pregnancy was studied using a Cox model adjusted for maternal age. The adjusted hazard ratio of spontaneous abortion associated with paternal age of 35 years or more, compared with less than 35 years, was 1.27 (95% confidence interval: 1.00, 1.61), with no modification by maternal age. Among women aged less than 30 years, the hazard ratio of spontaneous abortion associated with paternal age of 35 years or more was 1.56 for first trimester spontaneous abortion and 0.87 for early second trimester spontaneous abortion (test of interaction, p = 0.25). In conclusion, the risk of spontaneous abortion increased with increasing paternal age, with a suggestion that the association is stronger for first trimester losses.

Abortion, Spontaneous↗
PubMed2001

Statistical approaches to paternity analysis in natural populations and applications to the North Atlantic humpback whale.

We present a new method for paternity analysis in natural populations that is based on genotypic data that can take the sampling fraction of putative parents into account. The method allows paternity assignment to be performed in a decision theoretic framework. Simulations are performed to evaluate the utility and robustness of the method and to assess how many loci are necessary for reliable paternity inference. In addition we present a method for testing hypotheses regarding relative reproductive success of different ecologically or behaviorally defined groups as well as a new method for estimating the current population size of males from genotypic data. This method is an extension of the fractional paternity method to the case where only a proportion of all putative fathers have been sampled. It can also be applied to provide abundance estimates of the number of breeding males from genetic data. Throughout, the methods were applied to genotypic data collected from North Atlantic humpback whales (Megaptera novaeangliae) to test if the males that appear dominant during the mating season have a higher reproductive success than the subdominant males.

Animals↗
PubMed2002

Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome.

BACKGROUND: It is unclear whether frequency of sperm aneuploidy is associated with risk of fathering children with trisomy. METHODS: We recruited 36 families with a boy with Klinefelter syndrome (KS), interviewed the fathers about their exposures and medical history, received a semen sample from each father, and collected blood samples from the mother, father and child. We applied a multicolour fluorescent in-situ hybridization assay to compare the frequencies of sperm carrying XY aneuploidy and disomies X, Y and 21 in fathers of maternally and paternally inherited KS cases. RESULTS: Inheritance of the extra X chromosome was paternal in 10 and maternal in 26 families. Fathers of paternal KS cases produced higher frequencies of XY sperm (P = 0.02) than fathers of maternal KS cases. After controlling for age, the major confounding variable, the difference between the two groups was no longer significant (P less-than-or-equal 0.2). Also, there were no significant differences between the parental origin groups for disomy X, Y or 21. CONCLUSIONS: Men who fathered a child with a Klinefelter syndrome produced higher frequencies of XY sperm aneuploidy, which is explained, in part, by both paternal age and parent of origin.

Adult↗