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PubMed1996

STR typing of buccal swabs for paternity testing with reference to Japanese population data on the D20S85, D14S118, and D14S543 loci.

To simplify short tandem repeat (STR) typing of genomic DNA, we used buccal cells instead of blood cells. Buccal swabs taken from paternity-test trios were washed with 1 ml of distilled water by centrifugation, and the pellets were suspended in 20 microliters of distilled water. The suspensions were frozen at -80 degrees C and then thawed. Using a 1/5 volume of each suspension, we were able to type STRs at the TH01, D20S85, D14S118, and D14S543 loci by triplex PCR amplification of the first three markers and by simplex amplification of the other. In addition, we studied the polymorphisms at the D20S85, D14S118, and D14S543 loci in a Japanese population of 320 individuals. The four loci have a combined average exclusion power of 99.37%. In 24 cases of disputed paternity, the results of STR typing of the four loci agreed with those of conventional marker typing. In addition to being simple and rapid, STR typing of buccal swabs involves no painful procedure. It is therefore preferable for paternity tests on infants and small children.

Alleles↗
PubMed1997

Smooth pursuit eye movement dysfunction in abstinent cocaine abusers: effects of a paternal history of alcoholism.

The present study evaluated smooth pursuit eye movement (SPEM) function in 36 cocaine-dependent patients, with or without a paternal history of alcoholism, and 12 nondrug-dependent normal volunteers. None of the subjects in either group met DSM-III-R diagnostic criteria for schizophrenia, or delusional, major affective, or schizotypal personality disorders. None possessed a history of seizures, significant head injury, HIV-1 infection, or regular medication use. SPEMs were elicited by a pendulum, oscillated at 0.5 Hz, and recorded using electro-oculographic techniques. Tracking accuracy was estimated by the power of the horizontal electro-oculograph at the stimulus oscillation frequency. Analyses revealed that the SPEM tracking accuracy of cocaine-dependent patients without a paternal history of alcoholism was superior to that of the normal control group. SPEM tracking in these patients correlated positively with years of cocaine and polysubstance abuse. In contrast, patients with a paternal history of alcoholism exhibited subnormal SPEM tracking performance. These differences could not be explained by other family history, demographic, or drug use variables.

Adult↗
PubMed1997

Metabolic profile and insulin sensitivity in healthy young Mexicans with a strong family history of non-insulin-dependent diabetes mellitus in the paternal branch.

The objective was to identify early metabolic defects and insulin sensitivity in a group of healthy young Mexicans with a family history of NIDDM in first and second degree on the paternal branch. The design was a cross-sectional study, and the setting was a hospital and a school of medicine in Guadalajara, Jalisco, Mexico. The subjects were 20 healthy, non-obese, young (age 19-20 years), born in Mexico, with family history of NIDDM in first and second degree in the paternal branch, and 20 controls. Measurements were serum values of creatinin, uric acid, total cholesterol, high-density lipoprotein cholesterol, triglycerides, glucose, and insulin, insulin tolerance test, glucose/insulin ratio, LDL cholesterol, VLDL cholesterol, total cholesterol/HDL cholesterol ratio and LDL cholesterol/HDL cholesterol ratio. In terms of results, only the total cholesterol was slightly, although significantly (p = 0.05) higher in probands (4.3 +/- 0.5 mmol/L) than in control subjects (3.9 +/- 0.5 mmol/L). In conclusion, healthy young Mexicans with a strong family history of NIDDM in the paternal branch were not different in insulin sensitivity from those without family history of NIDDM, and only showed a slight increase in serum total cholesterol.

Adult↗
PubMedDate not supplied

The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.

Prader-Willi syndrome (PWS) is a neurogenetic disorder resulting from the loss of paternal expression of gene(s) localized in the 15q11-q12 region. A new human gene encoding a putative protein with high homology to the mouse NECDIN protein has recently been characterized and mapped to chromosome 15q11-q12. It is expressed from the paternal allele only, suggesting its potential involvement in PWS. We now report the localization of the mouse Necdin gene in a region of conserved synteny to the human PWS region. We demonstrate the paternal specific expression of Necdin in the mouse central nervous system, and show that parental alleles display a differential methylation profile in the coding region. Finally, fluorescence in situ hybridization analysis reveals an asynchronous pattern of replication at the Necdin locus. These results clearly demonstrate imprinting of the mouse Necdin gene. Mouse models will be powerful tools in the study of human PWS phenotype and imprinting mechanisms.

Alleles↗
PubMed1997

[Paternity in the perspective of a group of fathers].

Looking upon occidental silence which involves the paternity, we performed this research with the intention to conceive some associated aspects: the family role, birth of son expectation and father social role. For that, 7 fathers have been interviewed with ages between 21 and 45 years. This study allowed us observed that the paternity of the interviewed fathers is experienced by the father-son relationship preoccupation, kids education and the constant search of ways to experience the paternity as a form to be near of the kids and the wife.

Adult↗
PubMed1998

Prenatally detected paternal uniparental chromosome 13 isodisomy.

A 13q isodisomy in a balanced karyotype: 45,XY,-13,-13, + i(13)(q10) was found in cultured amniocytes studied because of advanced maternal age. The isochromosome was monocentric and a new mutation as both parents had normal chromosomes. Fetal blood was studied to exclude 13-trisomy mosaicism. All (100) lymphocytes studied had the same karyotype with i(13)(q10) as the amniocytes. To determine the origin of the isochromosome, six microsatellite markers from 13q were analysed: D13S175, D13S166, D13S162, AC224, COLAC1 and D13S122. The results indicated that the i(13)(q10) was of paternal origin and isodisomic. The father had a risk of 1/20 for being a carrier for an autosomal recessive, progressive brain disorder, variant late infantile neuronal ceroid lipofuscinosis (CLN5). The risk for the fetus for this disorder of chromosome 13 was excluded by haplotype analysis. A healthy child was born at week 40 of pregnancy, supporting the idea that there are no paternally imprinted genes on chromosome 13q. Analysis of extra embryonal tissue (four samples studied) revealed the same balanced karyotype with the i(13)(q10)pat chromosome. According to the cytogenetic and molecular studies, the origin of the isochromosome 13 could be a transverse centromere cleavage at the paternal meiosis II or at an early mitosis.

Adult↗
PubMed1996

The sex ratio of children in relation to paternal preconceptional radiation dose: a study in Cumbria, northern England.

STUDY OBJECTIVE: To investigate whether the occupational exposure to external ionising radiation of men employed at the Sellafield nuclear installation, West Cumbria, affects the sex of the children they subsequently father. DESIGN: A retrospective cohort study using logistic regression to analyse the sex ratio, in particular in relation to paternal preconceptional irradiation. SETTING AND PARTICIPANTS: The 260,060 singleton births between 1950 and 1989 to mothers resident in Cumbria, north west England. RESULTS: The sex ratio among children of men employed at any time at Sellafield was 1.094 (95% CI: 1.060, 1.128), significantly higher than that among other Cumbrian children, 1.055 (95% CI: 1.046, 1.063). There was an increased sex ratio of 1.396 (95% CI: 1.127, 1.729) in the 345 children whose fathers were estimated from annual dose summaries to have received more than 10 mSv of external radiation in the 90 days preceding conception, but no significant linear trend between sex ratio and 90 day paternal preconceptional dose was found. There was no significant association between sex ratio and the external dose accumulated before the 90 day period preceding conception. CONCLUSIONS: Men employed at Sellafield fathered a greater proportion of boys than would be expected for a Cumbrian population, which may be partly explained by their younger age distribution. A greater effect was observed in the fathers with recorded doses exceeding 10 mSv in the 90 days before conception. While this may reflect a true statistical association, it is also possible that it may be a chance finding due to imprecision in the dose estimates and consequent misclassification.

Adult↗
PubMed1986

Can paternalism be modernised?

The contention that paternalism can be modernised in such a way as to avoid the usual criticisms is examined and dismissed. The alleged 'modernisation' consists simply in going through the motions of achieving the patient's free consent, while leaving the ultimate decision to the physician. Paternalism in this form is no better than the more old-fashioned variety, since it still takes away from patients the fundamental human right to make decisions about their own fate.

Disclosure↗
PubMed1997

Paternal occupational exposure around conception and spina bifida in offspring.

A multi-center case-referent study was conducted on the relation between paternal occupational exposure and spina bifida in offspring. Cases were born between 1980 and 1992 in The Netherlands. Referents were recruited from hospitals and from the general population. Postal questionnaires were used to gather information on occupation and potential confounders. Through job-specific telephone interviews with 122 case fathers and 411 referent fathers, detailed exposure information was collected on specific tasks, the use of chemical or physical agents, frequency of exposure, and use of protective equipment. The study yielded statistically significant associations between spina bifida and low exposure to welding fumes (OR = 1.6, 95% CI: 1.0-2.6) and low exposure to UV radiation during welding (OR = 2.6, 95% CI: 1.2-5.6), and suggestive findings of an association between spina bifida and moderate or high exposure to cleaning agents, moderate or high pesticide exposure (OR = 1.7, 95% CI: 0.7-4.0), and stainless steel dust (OR = 2.0, 95% CI: 0.8-5.2). No associations were identified for other paternal occupational exposures, such as organic solvents.

Case-Control Studies↗
PubMed1998

Micronuclei and developmental abnormalities in 4-day mouse embryos after paternal treatment with acrylamide.

The developmental consequences of paternal exposure to acrylamide (50 mg/kg i.p. for 5 days) were assessed in preimplantation embryos. There was a significant increase in the proportion of morphologically abnormal embryos after postmeiotic treatment during spermatogenesis (88.7% vs. 14.8% in control). Abnormal embryos had an average of 1.8 +/- 3.5 cells and > 80% had at least one fragmented nucleus. In addition, morphologically normal embryos were significantly delayed (34.3 +/- 12.8 cells per embryo vs. 57.6 +/- 15.7 in control, P < 0.001). Acrylamide caused 10- and 20-fold increases in frequencies of cells with micronuclei (MN) in morphologically normal and abnormal embryos, respectively (41 and 93 MN per 1,000 cells). Both centromere-negative (MN-) and centromere-positive (MN+) were induced. Nuclei of abnormal embryos were significantly larger (900 microm2 vs. 250 microm2) than controls. In addition, MN of abnormal embryos were larger than those of normal embryos (21.2 microm2 vs. 6.5 microm2, P < 0.01). Among control embryos, MN+ were significantly larger than MN- (P < 0.05). These findings suggest that the preimplantation embryo is a sensitive indicator of paternally transmitted effects on early development. Multiple mechanisms appear to be involved, including cytogenetic damage, proliferation arrest/delay, and fertilization failure. Future studies are needed to establish how induced cytological defects in preimplantation embryos contribute to birth defects and other postimplantation abnormalities.

Abnormalities, Drug-Induced↗
PubMed2000

Paternal exposure to cyclophosphamide dysregulates the gene activation program in rat preimplantation embryos.

Although there has been progress in determining the mechanisms by which maternal toxicant exposure affects progeny, there is little information on the actions of drugs administered to the father. We investigated the effects of pre-conceptional paternal exposure to cyclophosphamide, an anti-cancer agent, on embryonic gene activation in the rat. The male pronucleus was formed earlier in embryos sired by cyclophosphamide-treated male rats than in those sired by controls; early male pronucleus formation was followed by alterations in the gene activation program. BrUTP incorporation into RNA and Sp1 transcription factor immunostaining were increased and spread over both cytoplasmic and nuclear compartments in 2-cell embryos sired by cyclophosphamide-treated males compared to controls. Total RNA synthesis was constant in 1-8 cell embryos sired by drug-treated fathers, while in control embryos RNA synthesis increased four-fold to peak at the 4-cell stage. In 2-cell embryos sired by drug-treated males, the relative abundance of candidate imprinted genes was elevated significantly above control; a peak in the expression of these genes was not observed until the 8-cell stage in control embryos. Thus, paternal drug exposure temporally and spatially dysregulated rat zygotic gene activation, altering the developmental clock.

Animals↗
PubMed1987

Paternity testing 3: exclusion probabilities.

Blood typing with several blood systems is used in many countries to determine paternity or nonpaternity with respect to an alleged father. Various probabilities are usually presented, in particular: the conditional probability of excluding a random man as father given a particular mother-child phenotype combination, and the expected (unconditional) exclusion probability for all mother-child combinations can be calculated for a given blood system. Because these probabilities are of general interest in paternity studies, explicit formulae for the unconditional probabilities have been derived for some of the systems. Algorithms suitable for a microcomputer are given here for finding the exclusion probabilities for any system. These algorithms avoid the need for developing new formulae whenever a new system is introduced or a current system is extended through the addition of further alleles.

Algorithms↗
PubMed2002

Testing isonymy with paternal and maternal lineages in the early Québec population: the impact of polyphyletism and demographic differentials.

Isonymy is an ingenious and useful approach to studying kinship in human populations. However, it relies on assumptions that are difficult to verify. In this study, we provided a way to assess, in the early Québec population, the impact of factors such as polyphyletism, unbalanced sex-ratio among founders, and age differentials between spouses. All data were taken from the Population Register of Early Québec, which contains births, marriages, and deaths (>712,000) recorded in parish registers from the beginning of colonization (in 1608) to 1800. More specifically, using the 70,869 marriages recorded during that period, we compared kinship estimates given by genealogies, surnames, and paternal and maternal lineages. We also calculated a fifth coefficient of kinship by combining paternal and maternal lineage, thus providing a new way to test the isonymy method. The results show a good agreement between genealogical and isonymous estimates. However, this good correspondence is due to counterbalancing biases. Some of the implications of our results are discussed in the context of colonial America.

Age Factors↗
PubMed1988

Two-dimensional electrophoresis of human lymphocyte proteins: two-dimensional polymorphisms and paternity testing.

Genetic polymorphisms of seven human lymphocyte proteins, analyzed by two-dimensional electrophoresis, were evaluated in respect to their suitability for paternity testing. Current data of an enlarged family and population study for five proteins (p23, p30, p40, p60, p66), already described for a smaller population sample of Southern Germany, are presented together with evidence for a new polymorphic protein (p42), recently observed in our survey. These six proteins occurred in isoelectric focusing as two different variants, acidic (a) and basic (b). The genetic basis of the protein variations was ascertained (i) by the presence of homozygous and heterozygous phenotypes, (ii) by the Mendelian mode of transmission of the variants as allelic gene products within 17 families and (iii) by the demonstration of a gene-dosage dependence comparing the spot intensities in homozygous and heterozygous phenotypes. For quantitative data, laser densitometric scanning of the protein spots followed by computer-assisted quantitative evaluation of the spot intensities was performed. The allele frequencies of the polymorphic protein were calculated from the phenotype distributions within a sample of 56 unrelated individuals from Southern Germany. Gene frequencies of the common alleles ranged between 0.991 and 0.518. To discuss the suitability of the two-dimensional polymorphisms for paternity testing the theoretical exclusion probabilities were assessed for seven polymorphic proteins observed in our population sample, the six polymorphisms with two alleles described here and a further polymorphism (p75) with six alleles. For five proteins (p23, p40, p42, p66 and p75) we found sufficiently high values for the theoretical exclusion probabilities, ranging from 10% to 34%.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Proteins↗
PubMed1988

The genetic haptoglobin polymorphism: relevance of paternity assessment.

A practical method for haptoglobin subtyping is described utilizing fast sample preparation by means of batch adsorption to DEAE-cellulose and subsequent isoelectric focusing of reductively cleaved samples. The expanded haptoglobin polymorphism leads to an increase of the theoretical paternity exclusion rate to approximately 33%. Hence, the system appears to be highly attractive for paternity assessment.

Haptoglobins↗
PubMed1990

Haptoglobin subtype determination by isoelectric focusing in agarose gel: application to paternity testing and presentation of a new alpha 2-variant.

Haptoglobin subtyping of a Danish population sample (n = 2184) by a modified isoelectric focusing/immunoblotting method, using agarose gel and visualization by an alkaline phosphatase conjugated antibody, is presented. The allele frequencies were: Hp*1F 0.151; Hp*1S 0.241; Hp*2FS 0.565; Hp*2SS 0.040; Hp*2FF 0.002; Hp J*0.0002. Based on these data the theoretical change of exclusion of nonfathers in paternity cases was calculated to be 35%. Examination of 51 families with 120 children and of 648 mother/child pairs showed no exceptions from Mendelian inheritance. The results obtained by application of Hp subtyping to 405 paternity cases are given and the reliability of the method is discussed. A new alpha 2-variant occurring in the father and in two of three siblings of a Danish family is presented.

Alleles↗
PubMed1994

Calculation of paternity probabilities from multilocus DNA profiles.

We describe a procedure for evaluation of paternity evidence from multi-locus DNA probe patterns. A computer program abstracts a "+/-" notation description from the multilocus profile and then calculates a paternity index based on observed phenotypic fragment frequencies. The biostatistical evaluation considers only bands found in the child and missing from the mother--a simplified approach that is at once robust and conservative. Mutations are of course taken into account. Particular features lending objectivity to the interpretation include computer reading and matching decisions, and specific recognition and statistical compensation for ambiguities ("faint orphans").

Chromosome Banding↗
PubMed1995

Oligonucleotide (CAC)5 fingerprinting: validity and reliability in paternity testing.

Following the development of DNA fingerprinting (Jeffreys et al., Nature 1985, 314, 67-73) using the minisatellite probes 33.15 and 33.6, many other fingerprinting probes have been described. The wide type M13 phage, 3' HVR region of alpha globin gene, F10 and various synthetic oligonucleotide probes have been shown to produce multiallelic and individual specific DNA fingerprints. The two probes developed by Jeffreys et al. have been extensively used in forensic and paternity determination in various laboratories, however, for the use of DNA fingerprints produced by synthetic oligonucleotide probes, still need critical evaluation. In this paper the statistical evaluations of the fingerprinting probes (CAC)5 was carried out by comparing the results produced by Jeffreys et al., using probes 33.15 and 33.6. The mutation rate calculated for (CAC)5 as 0.015 is nearly similar to the probe 33.15 (0.011) but higher than the probe 33.6 (0.005). The data obtained using (CAC)5 fingerprint in paternity cases from the northeast of England are presented.

DNA Fingerprinting↗