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PubMed1996

STR typing in a deficiency case of disputed paternity.

In a case of disputed paternity where the alleged father was dead and the children and their mothers were available for testing, we analyzed 23 conventional hemogenetic markers and six short tandem repeat loci. We deduced the possible types of the alleged father and calculated the probability of paternity. Conventional phenotypings did not provide conclusive proof of paternity. In contrast, typing of the short tandem repeat loci gave a combined probability of paternity of 0.9986, establishing paternity. The present study demonstrates the power of short tandem repeat typing as a tool for solving such a deficiency case.

Alleles↗
PubMed1997

[DNA genotyposcoy in determining paternity: use of hybridized probes].

Analysis of hybridization probes for DNA genotypescopy (DNA genotyping and genome fingerprinting) was performed to detect 21 cases of paternity testing. A system with the highly informative multilocus DNA probe Red4, isolated by us earlier, and two single-locus probes (YNH24 and CMM101) detecting highly polymorphic (H > 96%) loci D2S44 and D14S13 was tested. In the cases analyzed, the Red probe was shown to detect, on average, 19.28 +/- 3.6 polymorphic BsuRI fragments in the DNA profile of presumable fathers and 19.67 +/- 5.84 BsuRI fragments in the DNA profile of mothers. The average number of DNA fragments inherited by a child from either parent was approximately equal (8.72 +/- 3.77 and 7.11 +/- 2.66, respectively). The low population frequency of DNA fragments detected by the Red4 probe allowed highly effective positive paternity identification to be performed. Paternity was established in 86% (with probability > 99.75 or > 99.99%) and excluded in 14% of expertises. Single-locus probes YNH24 and CMM101 were used as an additional criterion in cases when, in the DNA profile of a child, a single band (probable de novo mutation) or several bands (probable false paternity or maternity) were revealed but absent in both presumable parents. In once case, a de novo mutation for the YNH24 probe, not described earlier, was revealed. Therefore, a combination of multilocus and single-locus hybridization probes appeared to be the most promising method for significant paternity testing in forensic and medical genetic practice.

DNA Fingerprinting↗
PubMed1997

Preferential loss of the paternal alleles in the 18q- syndrome.

Individuals with the 18q- syndrome have variable deletions from the long arm of chromosome 18. They also exhibit a highly variable phenotype. To correlate genotype with phenotype accurately, extensive molecular and phenotypic analyses are needed on each affected individual. As a part of this analysis, we have determined the parental origin of the deleted chromosome in 34 individuals with the 18q- syndrome. We have found that 85% of the de novo deletions are paternal in origin. The percentage of fathers of individuals with paternally derived deletions who were > 30 years old was (not significantly) greater than that of the general population. The mothers of individuals with maternally derived deletions were near an average age for childbearing compared to the general population. Individuals with maternally derived terminal deletions had breakpoints as varied as those with paternally derived deletions. These results are consistent with the hypothesis that the reduced incidence of maternally derived deletions is not due to reduced viability, since individuals with large maternally derived deletions of chromosome 18q were found. We hypothesize that the prevalence of paternally derived deletions is due to an increased frequency of chromosome breakage in male germ cells. These results are consistent with results observed in other segmental aneusomies in which there is a high incidence of paternally derived deletions.

Adult↗
PubMed1999

Syndromal obesity due to paternal duplication 6(q24.3-q27).

The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23-qter) was detected. We present the case of a 38-year-old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid-childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23-24, 6q25.3-6qter locus-specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24-q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid-childhood.

Adult↗
PubMed1998

Effect of paternal alcohol consumption before conception on infant birth weight. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood.

Previous studies of paternal drinking and fetal growth in both animals and human have produced conflicting results. We evaluated the association between paternal drinking before conception and infant birth weight in a cohort of 9,845 liveborn singleton infant born to couples who participated in the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC), ALSPAC is a population-based cohort study in which women and their partners completed several self-administered questionnaires over the course of pregnancy. Of participating male partners, 20% were reportedly daily drinkers before conception, and 8% were considered moderately heavy or very heavy drinkers. Because maternal drinking is highly correlated with paternal, the analyses were stratified by maternal drinking in early pregnancy. We also adjusted for confounders and known predictors of birth weight. For all three maternal drinking strata, all adjusted mean differences in birth weight across levels of paternal drinking were similar, and all had confidence intervals that included zero. These findings persisted even after adjustment for other covariates and after stratification by parental smoking, race, and education. The size of the ALSPAC cohort, the large number of heavy drinkers, and the availability of data from the fathers themselves support the conclusion that paternal drinking before conception is not an important predictor of infant birth weight in humans.

Adult↗
PubMed1997

Nonrandom chromosome segregation in male meiosis of a sciarid fly: elimination of paternal chromosomes in first division is mediated by non-kinetochore microtubules.

The mechanism of nonrandom chromosome segregation and elimination in male first meiotic division of sciarid flies is one of the enigmas of classical cytogenetics. Interpretations of the available data regarding this unusual chromosome transport are contradictory [reviewed by Gerbi, 1986: "Germline-Soma Differentiations. Results and Problems of Cell Differentiation," Vol. 13:71-104]. In the present study of spermatogenesis in Trichosia pubescens the process is reinvestigated by indirect anti-tubulin immunofluorescence labeling of spindle microtubules and DAPI chromosome staining, partly in combination with ultrathin sectioning and electron microscopy. While the maternal homologues and the sex-limited (L) chromosomes seem to be transported very quickly toward the pole of the monopolar spindle, where they stay throughout first meiotic division, paternal homologues remain some distance from the pole, stick together, and, as an undifferentiated cluster of chromatin, withdraw from the pole in the course of division. Finally the paternal chromatin becomes eliminated in a cytoplasmic bud which is cast off. The different behavior of maternal homologues (and L chromosomes) and paternal homologues may be caused by differences in kinetochore structure and function. In contrast to maternal and L chromosomes, the paternal homologues do not display structurally defined kinetochore-like regions and seem to be unable to orient poleward. During the process of elimination, a prominent bundle of pole-oriented microtubules is associated with the paternal chromatin cluster. It is suggested that transport away from the pole is brought about by these microtubules. Thus, meiotic chromosome elimination in sciarids may be related to mechanisms involving "polar ejection forces" [Rieder et al., 1986: J. Cell Biol. 103:581-591].

Animals↗
PubMed2004

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.

Chromosome 14 demonstrates imprinting with differing phenotypes for both maternal and paternal uniparental disomy (UPD). Although only 11 cases of paternal uniparental disomy 14 (patUPD14) have been reported, a distinct clinically recognizable syndrome has emerged. The major features are polyhydramnios, small thorax, mildly short limbs, abdominal wall defects, and characteristic face with short palpebral fissures, broad flat nasal bridge, prominent philtrum, and small ears. Radiographically, the chest is bell-shaped and the ribs are distinctive with caudal bowing anteriorly and cranial bowing posteriorly. Several affected infants have died from respiratory failure. The survivors have short stature and mental retardation. The initial cases were all recognized because of translocations involving chromosome 14. Subsequently, several patients with a similar phenotype and normal chromosomes have been reported, including two with mixed iso- and hetero-disomy as well as one with segmental UPD14. Our patient is the first with pure paternal isodisomy 14 in the absence of a translocation. We present additional clinical information, review the literature, and discuss mechanisms that may explain paternal isodisomy 14 in our chromosomally normal patient. Paternal UPD14 with normal karyotype may be more common than previously suspected and may be overlooked unless recognition of the clinical phenotype prompts investigation for UPD.

Abnormalities, Multiple↗
PubMed2004

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

We report on a girl with a dicentric chromosome 14 [45,XX,inv(9)(p11q13),dic(14;14)(p11.1;p11.1)] with paternal uniparental disomy (UPD) for chromosome 14. Clinical findings include severe hypotonia, thoracic dystrophy, diastasis recti, swallowing difficulties with aspiration, developmental delay, and multiple minor anomalies. UPD for chromosome 14 has been documented with paternal UPD much less commonly than with maternal UPD. There have been ten cases of paternal UPD for chromosome 14 and one case of segmental paternal isodisomy of chromosome 14. Many of the findings are nonspecific, but the radiographic rib findings (referred to as the "coat-hanger" sign) are characteristic for this condition. UPD 14 studies should be performed in children thought to have Jeune asphyxiating thoracic dystrophy or other related osteochondrodysplasias when the diagnosis is in question. Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14.

Abnormalities, Multiple↗
PubMed1992

Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.

Angelman and Prader-Willi syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11-q13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either syndrome have no apparent deletion, and because many such patients with Prader-Willi syndrome display inheritance of two copies of chromosome 15 from the mother only (uniparental disomy; UPD), we suggested that paternal UPD might be found in patients with Angelman syndrome. We report here clinical, cytogenetic, and molecular evidence on the 1 patient with paternal UPD for chromosome 15 who was found in our study population. This represents, to our knowledge, the first patient with paternal UPD to be studied with DNA probes from the chromosome 15q11-q13 critical region. In contrast to our findings for patients with Prader-Willi syndrome, in which maternal UPD was common, our data demonstrate that paternal UPD is infrequent in patients with Angelman syndrome.

Angelman Syndrome↗
PubMed1992

Association of paternal alcohol use with gestational age and birth weight.

Paternal alcohol use has been associated with a number of adverse reproductive outcomes in laboratory animals and there is one epidemiologic report of a detrimental effect on infant birth weight. To expand the epidemiologic evidence, data from the Child Health and Development Studies were analyzed. Data collected from the onset of prenatal care in 10,232 women enrolled in the Kaiser Foundation Health Plan and residing in the San Francisco East Bay area between June 1959 and September 1966 were available, including information on the mother's report of paternal alcohol consumption and a number of potential confounders. Pregnancy outcomes included preterm delivery (< 37 weeks completed gestation), moderately low birth weight (1,501-2,500 g), very low birth weight (< or = 1,500 g), small-for-gestational-age (< 10th percentile of weight for gestational age), and mean birth weight. Paternal alcohol use, analyzed in intervals from 0 to 2.0 or more drinks per day, showed no association with any of the outcomes of interest. Adjusted prevalence odds ratios ranged from 0.7 to 1.5, with no indication of a monotonic dose-response gradient. Mean birth weight was also virtually unrelated to paternal alcohol use. Compared with the earlier report, this population had a very modest level of alcohol consumption. Nonetheless, within the range that was studied there appears to be no association between paternal alcohol use and birth outcome.

Adult↗
PubMed1998

Male and female behaviour and extra-pair paternity in the wheatear

Behavioural observations and DNA fingerprinting were used to determine the relationship between male and female behaviours and levels of extra-pair paternity in the wheatear, Oenanthe oenanthe. Behavioural observations were consistent with the hypothesis that males attempted to ensure paternity by mate guarding, while pursuing extra-pair copulations (EPCs) primarily outside the fertile period of their pair female. The intensity of guarding varied with time of season and was greater at late nests. However, although males on territories with late nests also experienced high intrusion rates, the intensity of guarding was influenced more by the operational sex ratio (which was female skewed at early nests) than by intrusion rates per se. We suggest that early breeding males adopted a strategy of territorial defence to ensure paternity, as opposed to guarding their female directly (which late breeding males did), to capitalize on the increased opportunities to pursue EPCs in neighbouring territories. Females were less conspicuous than males in their pursuit of EPCs, were never seen off territory or observed to solicit extra-pair males directly, and rejected the majority of EPCs. The frequency of extra-pair paternity was 11% of 73 offspring, in 29% of 17 broods, and was not correlated with the intensity of guarding. Female cooperation appeared to be important for successful copulation, and extra-pair paternity is therefore likely to be a consequence of solicited, or at least accepted, EPCs. We discuss why females might have participated in EPCs. Copyright 1998 The Association for the Study of Animal Behaviour Copyright 1998 The Association for the Study of Animal Behaviour.

Journal Article↗
PubMed2001

Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

Genomic imprinting, the differential expression of paternal and maternal alleles, involves many chromosomal regions and plays a role in development and growth. Differential methylation of maternal and paternal alleles is a hallmark of imprinted genes, and thus methylation assays are widely used to support the identification of novel imprinted genes. Either blood or lymphoblast DNAs are most often used in these assays, even though methylation levels may change in cell culture. We undertook a systematic survey of parent-of-origin-specific methylation of chromosome 7 genes and ESTs by comparing DNA samples from cases of maternal and paternal uniparental disomy for chromosome 7 using DNA from fresh blood and lymphoblast cell lines. Our results revealed that up to 41% of genes and ESTs show parent-of-origin-specific methylation differences in lymphoblast DNA after only a short time in culture, whereas methylation differences were not seen in blood DNA. The methylation changes occurred most commonly on paternal chromosome 7, whereas alterations on maternal chromosome 7 were more infrequent and weaker. These findings indicate that methylation patterns may change significantly during cell culture in a parent-of-origin-dependent manner and suggest that methylation is maintained differently on maternal and paternal chromosomes 7.

Adolescent↗
PubMed2004

Retrospective selection of elite parent trees using paternity testing with microsatellite markers: an alternative short term breeding tactic for Eucalyptus.

The conventional way to drive modifications in old forest tree seed orchards is to establish progeny trials involving each parent tree and then evaluate its contribution to the performance of the progeny by estimating its general and specific combining ability (GCA and SCA). In this work, we successfully applied an alternative parent selection tactic based on paternity testing of superior offspring derived from a hybrid seed orchard established with a single Eucalyptus grandis seed parents and six E. urophylla pollen parents. A battery of 14 microsatellite markers was used to carry out parentage tests of 256 progeny individuals including two independent samples of selected trees and one control unselected sample, all derived from 6-year-old forest stands in eastern Brazil. Paternity determination was carried out for all progeny individuals by a sequential paternity exclusion procedure. Exclusion was declared only when the obligatory paternal allele in the progeny tree was not present in the alleged parent tree for at least four independent markers to avoid false exclusions due to mutation or null alleles. After maternity checks to identify seed mixtures and selfed individuals, the paternity tests revealed that approximately 29% of the offspring was sired by pollen parents outside the orchard. No selfed progeny were found in the selected samples. Three pollen parents were found to have sired essentially all of the offspring in the samples of selected and non-selected progeny individuals. One of these three parents sired significantly more selected progeny than unselected ones ( P< or =0.0002 in a Fisher exact test). Based on these results, low-reproductive-successful parents were culled from the orchard, and management procedures were adopted to minimize external pollen contamination. A significant difference ( P<0.01) in mean annual increment was observed between forest stands produced with seed from the orchard before and after selection of parents and revitalization of the orchard. An average realized gain of 24.3% in volume growth was obtained from the selection of parents as measured in forest stands at age 2-4 years. The marker-assisted tree-breeding tactic presented herein efficiently identified top parents in a seed orchard and resulted in an improved seed variety. It should be applicable for rapidly improving the output quality of seed orchards, especially when an emergency demand for improved seed is faced by the breeder.

Brazil↗
PubMed2006

Complete elimination of maternal mitochondrial DNA during meiosis resulting in the paternal inheritance of the mitochondrial genome in Chlamydomonas species.

The non-Mendelian inheritance of organellar DNA is common in most plants and animals. In the isogamous green alga Chlamydomonas species, progeny inherit chloroplast genes from the maternal parent, as paternal chloroplast genes are selectively eliminated in young zygotes. Mitochondrial genes are inherited from the paternal parent. Analogically, maternal mitochondrial DNA (mtDNA) is thought to be selectively eliminated. Nevertheless, it is unclear when this selective elimination occurs. Here, we examined the behaviors of maternal and paternal mtDNAs by various methods during the period between the beginning of zygote formation and zoospore formation. First, we observed the behavior of the organelle nucleoids of living cells by specifically staining DNA with the fluorochrome SYBR Green I and staining mitochondria with 3,3'-dihexyloxacarbocyanine iodide. We also examined the fate of mtDNA of male and female parental origin by real-time PCR, nested PCR with single zygotes, and fluorescence in situ hybridization analysis. The mtDNA of maternal origin was completely eliminated before the first cell nuclear division, probably just before mtDNA synthesis, during meiosis. Therefore, the progeny inherit the remaining paternal mtDNA. We suggest that the complete elimination of maternal mtDNA during meiosis is the primary cause of paternal mitochondrial inheritance.

Animals↗
PubMed2003

Multiple paternity in Norway lobster (Nephrops norvegicus L.) assessed with microsatellite markers.

We investigated genetic diversity and the mating system of the Norway lobster (Nephrops norvegicus) in a wild population off the Portuguese coast. Approximately 100 individuals were screened for 2 microsatellite loci. For 11 ovigerous lobsters both the female and a sample of her offspring (24 eggs) were genotyped. High genetic diversity was observed for the 2 markers in the population. Paternity within broods was analyzed by comparing multilocus genotypes of each egg with the corresponding mother, and the male parent contribution was then deduced. Multiple paternity was observed in 6 of the 11 broods studied. In those cases, 2 to 3 male parents were likely to have contributed to the fertilization of the eggs. When multiple paternity was involved, the comparative reproductive success of the male parents was quite even. This is the first report of multiple paternity in the Norway lobster. Comparisons with other taxa are presented, and consequences of multiple paternity are discussed.

Animals↗
PubMed1993

Characterization of antibodies induced by paternal lymphocyte immunization in couples with recurrent spontaneous abortion.

This study was designed to identify and characterize the allo- and autoantibodies induced following successful paternal lymphocyte immunization to prevent recurrent spontaneous abortion. Firstly the titers of maternal anti-paternal antibodies in women with successful pregnancies as determined by the flow cytometry crossmatch (FCXM) were highly variable; however, in all cases, the initial pre-immunization titers were negative and the post-immunization titers were positive by the FCXM in successfully treated women. Secondly, the specificities of maternal alloantibodies to paternal HLA antigens (immunogen) were evaluated. No all predicted antibodies to mismatched paternal HLA antigens were found by microlymphocytotoxicity (MCX) assays and the specificities varied. Thirdly, antibodies in post- but not preimmunization sera reacted with two lymphoid cell lines, SupT1 and SB; in addition, the rise and fall of the titers of these sera with paternal cells seemed to be reflected with the cell lines by the FCXM. Fourthly, autoantibodies to activated lymphocytes were detected and seemed to correlate with successful immunization since women who had another abortion following immunotherapy lacked these autoantibodies. These findings suggest that the antibody response following successful immunotherapy is complex and needs to be studied further to understand the mechanism of this treatment.

Abortion, Habitual↗
PubMed1984

The effect of parental HLA compatibility on the expression of paternal haplotypes in offspring.

The compatibility of HLA-A,-B expression between mother and offspring was examined in 410 families serologically tissue typed within a single transplant lab from 1972 thru 1982. The study group included 410 mothers of 1719 children (range 2-13/mother), with 352 one-father and 58 multiple-father families There were seven cases of monozygous twins and seven cases each of maternal and paternal allelic recombination. The degree of haplotype matching between the oldest offspring and subsequent siblings was within the expected range of distribution. The number of maternal HLA-A,-B antigens matched or mismatched with paternal antigens of the offspring did not show a significant difference between early born or late born siblings either in one-father or multiple-father families. In addition, where the mother showed significant sensitization to paternal HLA-A,-B antigens ther was no apparent selection against the incompatible paternal HLA antigens or associated haplotypes in subsequent offspring. These data suggest that maternal HLA compatibility with the father is not a significant selective factor in determining the expression of paternal haplotypes in offspring.

Female↗
PubMedDate not supplied

Neurochemical, but not behavioral, deviations in the offspring of rats following prenatal or paternal inhalation exposure to ethanol.

In addition to its widespread social use, ethanol is used extensively as an industrial solvent. Inhalation exposures to ethanol which produce narcosis in maternal rats are not teratogenic. The present study sought to extend the previous research by including offspring from paternal exposures, and testing for behavioral disorders in the offspring following maternal or paternal exposures. Groups of 18 male (approximately 450 g) and 15 female (200-300 g) Sprague-Dawley rats were exposed 7 hours/day for six weeks or throughout gestation to 16000, 10000, or 0 ppm ethanol by inhalation and then mated with untreated rats. Litters were culled to 4 males and 4 females, and were fostered within 16 hours after birth to untreated dams which had delivered their litters within 48 hours previously. Offspring from paternally or maternally exposed animals performed as well as controls on days 10-90 in tests of neuromotor coordination (ascent on a wire mesh screen, rotorod), activity levels (open field, modified-automated open field, and running wheel), and learning ability (avoidance conditioning and operant conditioning). In addition, brains of 10 21-day-old pups were analyzed for neurochemical differences from controls in concentrations of protein and the neurotransmitters acetylcholine, dopamine, norepinephrine, 5-hydroxytryptamine, substance P, Met-enkephalin, and beta-endorphin. Levels of acetylcholine, dopamine, substance P, and beta-endorphin were essentially unchanged in the offspring of rats exposed to ethanol. Complex, but significant changes in levels of norepinephrine occurred only in paternally exposed offspring. 5-Hydroxytryptamine levels were reduced in the cerebrum, and Met-enkephalin levels were increased in all brain regions of offspring from both maternally and paternally exposed rats.

Administration, Inhalation↗