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The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.

Von Recklinghausen neurofibromatosis is characterized by a relatively large proportion of apparently nonfamilial cases, presumed spontaneous mutations. This paper analyzes the distribution of paternal and maternal ages for 187 patients with von Recklinghausen disease representing the first definite case in their respective families. Mean paternal age was 32.8 years and mean maternal age was 27.4 years, both being significantly greater than for control populations (P equal to or less than .001). The advanced paternal age was not accounted for by the increase in maternal age. The methodology of controlling the general population paternal ages for each patient's birth year is described.

Adult↗

Paternal age and sporadic schizophrenia: evidence for de novo mutations.

Schizophrenia is an etiologically heterogeneous syndrome. It has a strong genetic component and exists in clinically indistinguishable familial and nonfamilial (sporadic) forms. A significant role for de novo genetic mutations in genetic schizophrenia vulnerability is suggested by a strong monotonic increase in schizophrenia risk with advancing paternal age. However, an alternative explanation for the paternal age effect in schizophrenia is that childbearing is delayed in fathers who themselves have genetic schizophrenia vulnerability. In this study, we compared paternal birth ages between patient groups with familial (n = 35) and sporadic (n = 68) patients with DSM-IV schizophrenia from an inpatient schizophrenia research unit. If later age of fathering children is related to having some genetic schizophrenia vulnerability, then paternal birth age should be later in familial schizophrenia cases than in sporadic cases, and any association of father's age and schizophrenia risk in offspring would be a spurious finding, unrelated to etiology. However, if de novo mutations cause sporadic schizophrenia, then patients without a family history of schizophrenia would have older fathers than familial patients. We found that patients without a family history of schizophrenia had significantly older fathers (4.7 years) than familial patients; so later childbirth was not attributable to parental psychiatric illness. These findings support the hypothesis that de novo mutations contribute to the risk for sporadic schizophrenia.

Age Factors↗

Calculating paternity probabilities from DNA multilocus fingerprints in some cases of deficiency.

Paternity determination via DNA multilocus fingerprints in normal trio cases, namely when the fingerprints of the trio mother, child and putative father are available, is performed on a routine basis. But in cases of deficiency, where the DNA fingerprint of mother or putative father is missing, there exists no systematic, analytical way for paternity calculations, even in cases where DNA fingerprints of other persons related to the missing individual are available. The aim of this paper is to establish a mathematical, analytical background, that enables paternity calculations in cases of deficiency if complementary information can be obtained from the DNA fingerprints of at least one of the parents of the missing individual. Using the basic outline of our previously described procedure, the formulas for paternity calculations also allow mutations.

Chromosome Mapping↗

Multilocus DNA fingerprinting: the independence problem in quantitative paternity testing.

A simulation study was performed in order to determine whether or not the assumption of independence, made in the quantitative analysis of multilocus DNA fingerprints, represents an inadmissible over-simplification. A total of 10,000 cases of true and false paternity, respectively, were simulated in twenty replicas of various genetic models. Log-likelihood ratios (paternity vs. non-paternity; LR) were calculated using published likelihood formulae and assuming position-wise independence. The resulting LR distributions were compared to (i) the results of a classical analysis of the underlying genotype data, and (ii) the distributions expected from the likelihood model employed in the LR calculations. Although considerable discrepancies were observed between these distributions, decision making about paternity appeared to be only marginally affected, especially when only a fraction of each multilocus DNA fingerprint was analyzed.

Chromosome Mapping↗

DNA fingerprinting to determine paternity in laboratory rat sperm competition experiments.

Prior to this study a significant amount of research had been undertaken in the field of sperm competition in mammals. However, males of different strains have been required in each of these studies to enable paternity assignment through gene expression, which has consequently resulted in problems with differential fertilising capacity being encountered. In this study paternity assignment of progeny from sperm competition experiments with Sprague Dawley rats was achieved by multilocus DNA fingerprinting using band locus matching of individual specific banding patterns between progeny and parents. Trials with 4 restriction enzymes and 5 digoxygenin labelled probes (4 oligonucleotide and 1 cloned) achieved the highest levels of DNA fingerprint heterozygosity using AluI(CAC)5 and HinfI(CAC)5 combinations; however, paternity could not be determined in all offspring, due to a higher than expected degree of inbreeding within the rat population used in this study. This was demonstrated in subsequent comparisons of genetic diversity of three laboratory rat breeding populations from two different animal breeding facilities. Data from the rat mating study showed that, under conditions of direct sperm competition, second males given access to a mated oestrus female either 0.5 or 6.0 h after the first mating consistently required less time than the first to ejaculate: 7.6 min vs. 19.5 min (0.5 h delay ); 7.8 min vs. 19.5 min (6.0 h delay). A second males siring advantage was identified using DNA fingerprinting in both delay groups for those offspring on which paternity could be determined: 0.5 h delay, 1st = 39%, 2nd = 61%; 6 h delay, 1st = 34%, 2nd = 66%.

Animals↗

DNA analysis in disputed parentage: the occurrence of two apparently false exclusions of paternity, both at short tandem repeat (STR) loci, in the one child.

In cases of disputed paternity investigated by DNA analysis, it is generally accepted that at least two independent exclusions be observed before concluding that a putative father is not the biological father of the child. We report here a case in which two apparent exclusions of paternity were obtained (at the loci FESFPS and TPOX), from a total of nineteen loci examined (short tandem repeats, AMFLPs, DQA1, Polymarkers). The combined paternity index of the other seventeen loci, and of two multilocus probes (33.15 and 33.6) would exceed twenty-eight trillion to one. In the absence of any alternative putative father (including close relatives of the man tested), we concluded that the most likely explanation for these results was that the putative father was indeed the biological father, but that two independent mutations had occurred in either the ovum and/or spermatozoon. We have altered our internal laboratory criterion for exclusion of paternity to require exclusions in three independent loci.

Alleles↗

Genetic determination of paternity and variation in male reproductive success in two populations of rhesus macaques.

The fundamental framework for uncovering factors affecting the evolution of social behavior rests upon analyses of variation in reproductive success. In species where females mate with multiple males, paternity is invisible in the absence of genetic data. We determined paternity in two populations of rhesus macaques, Macaca mulatta, using both single locus and multilocus techniques. One troop, Group R, is one of four troops living on a 15 ha island (Cayo Santiago) off the coast of Puerto Rico, while the other troop, Group M, was translocated from Cayo Santiago to the Sabana Seca Field Station (Puerto Rico) in 1984. About a dozen human-derived short tandem repeat (STR) markers have been found to be polymorphic in the study of populations and provide the initial paternity determination. Final evaluation of paternity is then confirmed by multilocus DNA fingerprinting using synthetic oligonucleotide probes. Body condition, age, and dominance rank have an impact on male progeny production, while canine size does not. We suggest that nonagonistic competition in the form of sperm competition and endurance rivalry will modulate male reproductive success. A large body size among males provides them with an advantage in both sperm competition and endurance rivalry. Comparison of the two populations indicated that demographic, social, ecological, and morphological factors interact to regulate variation in reproductive success among male nonhuman primates.

Aging↗

GFP reporter gene confirms paternity in the androgenote Buenos Aires tetra, Hemigrammus caudovittatus.

A protocol for successful induction of androgenetic cloning of the Buenos Aires tetra (BT), Hemigrammus caudovittatus, with contrasting gray and golden strains is described. At the intensity of 4.2 W/m(2), UV irradiation for 2.75 min totally inactivated the maternal genome in eggs of gray BT. Following activation by sperm of golden BT, the 25-min-old embryos were shocked at 41 degrees C for 2 min to restore diploidy. Interestingly, the hatching success of the haploid fry was always higher than that of the diploid fry, indicating that the enhanced homozygosity (Y(2)Y(2)) is more deleterious than haploidy. Maternal genomic inactivation was confirmed by (i) expression of green fluorescent protein (GFP) gene in the 6-16 hr old live haploid and aneuploid embryos, (ii) golden body color in the diploid fry and adult and (iii) progeny testing. Survival of androgenotes was 10% at hatching and 6% at sexual maturity. Reproductive performance of F(0) and F(1) males (Y(2)Y(2)) was superior to that of normal ones (X(1)Y(2)), but that of the F(0) and F(1) females (X(2)X(2)) was inferior to the control (X(1)X(2)). Of 21 crosses involving homozygous androgenetic (Y(2)Y(2)) males and heterozygous (X(1)X(2)) females, 7 of them (33%) produced 3-9% unexpected female progenies. But only a single cross (14%) generated 3-4% unexpected female progenies, when 7 pairs of homozygous androgenetic (Y(2)Y(2)) males and (X(2)X(2)) females were crossed. Hence, the paternal autosomes, inherited by the homozygous androgenetic female (X(2)X(2)), produced female progenies in significantly less number of crosses, also at lower frequencies than the crosses with heterozygous females (X(1)X(2)), which carried an equal number of paternal and maternal autosomes. However, progenies resulting from the cross between gray female (X(1)X(2)) and golden male (Y(2)Y(2)), after undergoing androgenesis, were males, with paternal chromosomes alone, indicating that the presence of Y(2)Y(2) appears to override the modifying effect of autosomes, but the paternal or maternal autosomes seemed to override the single Y(2) present with X(1) or X(2), and induced the production of unexpected female progenies. Using Double sex Mab3 related transcription factor (DMRT 1)-specific primers, PCR analyses of the genomic DNA of the normal (X(1)Y(2)) and androgenetic males (X(1)Y(2)) produced two amplicons of 237 and 300 bp length. However, they were not detectable in the female (X(1)X(2)) genomic DNA, which amplified only one amplicon of 100 bp. Genomic DNA extracted from the 18 unexpected female progenies expressed the (X(1)Y(2)) genotype-specific banding pattern with two amplicons of 237 and 300 bp length and thereby confirmed that they were genotypic males. A partial sequencing of the male-specific sequence indicated that DMRT 1-specific primer was bound to the fragment of the genomic DNA of the male tetra, although the male-specific sequence of DMRT 1 was not completely detectable.

Animal Husbandry↗

Prenatal paternity testing by DNA analysis.

Prenatal paternity testing was evaluated by DNA analysis in chorionic villus biopsies obtained during the 7th-22nd weeks of gestation. Using highly polymorphic variable number of tandem repeats (VNTR) probes, we analysed four cases consisting of mother/child/alleged father trios. In all cases, we were able to detect maternal and paternal alleles and could establish or exclude paternity. The application of DNA analysis represents a new important diagnostic aid for all cases that require a prenatal identification of paternity.

Blotting, Southern↗

Paternal Lake Ontario fish consumption and risk of conception delay, New York State Angler Cohort.

The aquatic ecosystems of the Great Lakes are contaminated with a variety of compounds, some of which are considered reproductive toxicants. Few studies of paternal fish consumption and reproductive endpoints have been undertaken and serve as the impetus for study. Standardized telephone interviews were conducted with 2445 female members of the New York State Angler Cohort (82% response) to update reproductive profiles and to ascertain specific information on time-to-pregnancy (TTP). The study sample includes women with a known TTP and paternal fish consumption data (n=785). Conception delay was defined as more than 12 cycles of unprotected intercourse to achieve pregnancy. Paternal fish consumption was assessed by three measures: frequency of Lake Ontario sport fish meals in 1991, numbers of years eating fish, and estimated PCB exposure from fish consumption. Adjusted ORs for number of fish meals, based on logistic regression, ranged from 0.69 to 0.80; from 0.61 to 0.82 for number of years eating fish; and from 0.44 to 1.14 for quartiles of estimated PCB exposure from fish consumption. All confidence intervals included one. These findings suggest that, based on paternal self-reports, Lake Ontario fish consumption does not increase the risk of conception delay.

Adult↗

Interactions among paternal behavior, steroid hormones, and parental experience in male marmosets (Callithrix kuhlii).

Male black tufted-ear marmosets (Callithrix kuhlii) contribute to the rearing of their offspring. Here we evaluated predictions of hypotheses suggesting that (1) T and E2 influence infant-care behavior in male marmosets, (2) levels of T and E2 are modulated by paternal experience, and (3) paternal behavior and levels of T and E2 in male marmosets covary with stress. We observed the behavior of marmosets in their family groups following the birth of infants and evaluated urinary concentrations of T, E2, and the stress hormone cortisol (CORT) among fathers before and after the birth of young. Urinary levels of T, E2, and CORT were lower among males who carried infants at high rates than males who carried at low rates, and T and CORT levels were negatively correlated with carrying rates across all males. Males had significantly lower T levels while carrying the second compared to the first litter and slightly lower rates of infant-carrying, possibly due to assistance provided by offspring of the first litter. There were increases in CORT levels of fathers after the birth of the first litter, but decreases in CORT after the birth of the second. Our results suggest a relationship in C. kuhlii between paternal behavior, hormones, and paternal experience. Rates of infant-carrying appear to be linked to hormone levels, and hormone levels in turn are affected by experience caring for young. Our data also suggest that T, E2, and CORT have synergistic influences on infant-carrying behavior or alternatively that associations between T and E2 and rates of infant-carrying are influenced by stress or other glucocorticoid-related variables. Finally, we propose a hypothesis suggesting that experience-related changes in hormones reinforce the commitment of males to successful breeding partnerships.

Animals↗

Testing deficiency paternity cases with a Y-linked tetranucleotide repeat polymorphism.

Because a son's genotype at a Y-linked locus uniquely specifies his father's genotype at that locus irrespective of the maternal contribution, Y-linked polymorphisms show increased exclusion power over autosomal polymorphisms in paternity cases involving a male child. This advantage is even more obvious when the alleged father is deceased or otherwise unavailable for testing. In this situation, any individual connected by patrilineage to the alleged father may be tested in his place. The usefulness of the Y-linked tetranucleotide repeat locus Y-27H39 in deficiency cases was evaluated in a set of 41 families that had a deceased alleged father and that had been tested at GENE/MG with multilocal and unilocal DNA fingerprinting probes. In sixteen of these cases the proband (child tested) was male and there were male relatives. In the thirteen cases in which paternity was included, Y-27H39 would contribute significantly to the paternity index. In one of three cases in which there was exclusion by fingerprinting probes there was also exclusion by Y-27H39. Thus, Y-27H39 is useful in deficiency paternity cases and will be specially valuable in situations where autosomal polymorphisms have limited power, such as when there is only one male living relative of the deceased father. However, our experience is that Y-linked probes can only be applied in approximately 40% of cases.

Base Sequence↗

Changing paternal age distribution and the human mutation rate in Europe.

All available evidence indicates that the human mutation rate increases with paternal age. In developed countries, a reduction in the proportion of older parents is a common feature of the marked changes in parental age distribution that occur as a result of family planning. We have related the current paternal age distribution in the European countries for which data is readily available, to a derived curve for paternal age-specific relative mutation rate. The results indicate that, to the extent that it is dependent on paternal age, the mutation rate has decreased considerably in developed countries during the past 50 years. The human mutation rate is a dynamic entity, continuously changing in response to social conditions.

Adult↗

[The relation between genotypical and phenotypical plausibilities of paternity (author's transl)].

Applying the formula of Okajima [2,3] to the genotypical possibilities of a given phenotypical child-mother-putativ father constellation one can compute for each of these possibilities a genotypical probability of paternity. It is possible to determine the discrete distribution function, the mean value, and the variance of these genotypical probabilities of paternity and it is shown that the phenotypical probability of paternity is equal to the mean value of the genotypical probabilities of paternity.

Blood Group Antigens↗

Proving paternity of children with deceased fathers.

Determination of paternity was attempted in the case of three children whose putative fathers are dead using DNA samples of the paternal grandparents. The DNA analyses were performed with both multilocus and single-locus probes which resolve highly polymorphic areas of human genome. The results were conclusive with both types of probes and facilitated, for example, the exclusion of the brother of the putative father. The evidence for true paternity obtained with DNA analyses can be considered reliable in this type of "indirect" paternity in which tests based on protein polymorphism are inconclusive.

Blood Group Antigens↗

Reexamination of paternal age effect in Down's syndrome.

Paternal age distribution for 1279 cases of Down's syndrome born in 1952--1968 was compared with the corresponding distribution for the general population, corrected for the maternal age as well as for the year of birth of the patients. Although there was no difference in the mean paternal age, the two distributions differed significantly, largely due to the excess of fathers aged 55 years and over and to the deficit of those aged 40--44 years in the patients born to mothers aged 30 years and over. The overall pattern of the relative incidence of Down's syndrome with advancing paternal age, with maternal age controlled, seems consistent with the hypothesis proposed by Stene et al. (1977). It increased from 0.8 for fathers aged 20--24 years slowly up to 1.2 for those aged 45--49 years, though with an intermediate drop to 0.8 at the age of 40--44 years, and then sharply to 2.4 for those aged 55 years and over. This rising pattern of the relative incidence with paternal age was essentially the same for the patients born in 1952--1960 and for those born in 1961--1968, although the slope was less steep in the latter than in the former group.

Adolescent↗

A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects.

This paper reanalyzes the data from the Hook and Cross (1982) paper in this journal concerning the association between Down's syndrome and paternal age. The New York State (NYS) data are compared with a large European collaborative study by Ferguson-Smith and Yates (1984). The maternal-age-dependent risks in the NYS data were found to be significantly higher than in the European data. When the NYS data was divided into three groups by means of the paternal age, a marked two-peaked distribution was found. The maternal-age-dependent risk was high when the fathers were up to 33 years old, low when the fathers' ages were 34-39 years and high again when the fathers were at least 40 years old. The differences were significant. The results speak in favour of the existence of temporal, geographic, or environmental variations in the risk for de novo trisomy 21, as well as of a paternal age effect. The existence of a "paternal age effect" in at least some populations is confirmed. If the results of this paper are confirmed in other investigations, it will be necessary to revise present genetic counselling rules towards far more individually specified considerations.

Adult↗

Issues in analysis of data on paternal age and 47,+21: implications for genetic counseling for Down syndrome.

Data and analyses on paternal age and 47,+21 are reviewed. It is concluded that there are few, if any, grounds to justify the inference of a paternal age effect independent of maternal age for those paternal age-maternal age combinations on which there are prenatal diagnostic data. It is suggested that genetic counseling as to increased (or decreased) risk of Down syndrome associated with various paternal ages is not justified at present.

Adult↗