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PubMed1994

A new method of paternity testing for dogs, based on microsatellite sequences.

Microsatellite sequences, like minisatellites, belong to a class of polymorphic DNA that is commonly found in mammalian DNA. Although they vary significantly less in a population of animals than minisatellites, they have potential for use in paternity disputes. However, their inherently lower variability together with the more genetically homogeneous nature of pedigree dogs due to inbreeding (line breeding), raised doubts about their effectiveness for paternity tests. This paper demonstrates that canine microsatellites provide an adequate basis for assigning paternity in pedigree breeds. The system presented is more straightforward to perform and interpret than that based on canine minisatellites (DNA 'fingerprinting') and requires as little as 0.1 ml of blood.

Alleles↗
PubMed1993

Disputed paternity: the historical perspectives.

Requests for blood tests to resolve issues of disputed paternity fall under three main categories: (1) Proof of adultery; (2) Proof of kinship (a) in claims for citizenship, (b) to make material changes to the Birth Certificate, (c) for settlement of family disputes usually in inheritance matters; and (3) Investigation of sex crimes like rape and incest where a child is the result of the union. A broad overview is given on the venous red cell and serum blood groups used for paternity investigations. The laws of inheritance as applied to blood group investigations for disputed paternity are discussed. A survey of cases investigated on red cell and serum genetic markers since 1978 till 1990 showed an average of 5.5 cases a year with exclusion of the putative father in 19% of cases.

Adult↗
PubMed1996

Successful paternity of twins following bone marrow transplantation with busulfan, melphalan and cyclophosphamide conditioning.

A 33-year-old man who had received previous chemotherapy with cytarabine, daunorubicin and mitoxantrone followed by an autologous marrow transplant after conditioning with busulfan, melphalan and cyclophosphamide, fathered sex-mismatched fraternal twins approximately 6 years post-transplant. HLA and DNA analyses showed the probability of paternity to be in excess of 99% for each twin. To our knowledge this represents the first documented case of paternity following conditioning with this combination of marrow ablative agents and the first report of twin paternity following autologous marrow transplantation.

Adult↗
PubMed1977

[Ahaptoglobinemia (hypohaptoglobinemia), its incidence, etiology and significance in paternity serology].

Frequency of ahaptoglobinaemia (ahp) in adult population (on the base of investigation of 4000 cases) was found 0.225 per cent, in children (on the base of investigation of 119 children younger than 2 years) 0.94 per cent. Frequency of ahp among children younger 4 months 44 per cent. These observations support the hypothesis, on the role of a mutagen allel (Hp2m) in the origin of the ahp. If in cases of discussed paternity in the child ahp was revealed and the Hp constellation of the mother: putative father was: Hp 1--1 X 1--1 or 2--2 X 2--2--provided that the paternity with the testing of other blood-group systems could not be excluded--it's necessary to try to identify the true Hp type of the child--since it might give the possibility for exclusion of paternity.

Blood Group Antigens↗
PubMed1977

[Cytogenetic paternity test in father-daughter incest (case report) (author's transl)].

Cytogenetic test for paternity proved superior to serological tests in a case in which possible father-daughter incest was to be proven or disproven. Of seven fetal chromosomal markers three were derived from the putative father, two from the mother and two paternal markers were present in both fetus and mother as a consequence of the incest. The fetus was homozygous for a paternal marker on chromosome 22.

Abortion, Legal↗
PubMed1997

Paternal risk factors for isolated membranous ventricular septal defects.

A case-control study using data from the Baltimore-Washington Infant Study (BWIS) examined possible paternal risk factors in the etiology of isolated membranous ventricular septal defects (VSD). There were 641 total VSD case infants and 3,549 randomly selected control infants ascertained between 1981 and 1989. Isolated membranous VSDs were identified in 499 cases. Socio-demographic factors (such as parental age and race), social habits, and medical conditions were analyzed by multiple logistic regression in order to estimate adjusted odds ratios (OR) and 95% confidence intervals (CI). Paternal age was not found to be a risk factor per se, but small positive associations were found for some social habits and maternal factors. Significant associations were found for paternal marijuana use (OR 1.36, 95% CI 1.05-1.76), African-American race of the infant (OR 1.34, 95% CI 1.09-1.65), and for cocaine use among older fathers (OR 3.92, 95% CI 1.30-11.86). These associations support a multifactorial etiologic hypothesis for isolated membranous VSDs and point to some interesting parental behavioral and medical considerations which may contribute to risk for this common birth defect.

Adult↗
PubMed1997

[Spreadsheets of a conventional application software for calculation of plausibility of paternity: application to parentage testing with highly polymorphic markers in deceased party].

We designed a spreadsheet package for the computation of plausibility of paternity, that can cope with highly polymorphic genetic markers and cases of deceased parties. The application program is Microsoft EXCEL, which is one of the best-selling spreadsheet software running on both Microsoft Windows and Macintosh OS. Komatsu's formula for paternity testing was mainly employed in the spreadsheet package. Probability of the mother-child-alleged father combination was calculated using "IF" function to compare the members' genotypes, whereas "VLOOKUP (or HLOOKUP)" function was employed to refer to a list of genes and their frequencies. In case of a phenotype consisting of several genotypes, the list of phenotypes versus genotypes was also given, to which the function referred. To extend these spreadsheets available for the test of deceased party, additional sheets were also created to estimate frequencies of alleged father's possible genotypes. These probabilities were calculated on the basis of types of his parents and siblings, those of his wife and their biological children, and those of both. This package would be cut out to compute the probability of paternity with extremely polymorphic loci with gentle user interface. Calculation time is satisfactorily short, although it requires considerably large disk space in some extremely complicated cases. Japanese version of this package is freely available at anonymous FTP site of the Department of Forensic Medicine, Tohoku University School of Medicine.

Female↗
PubMed1998

Paternal dioxin, preterm birth, intrauterine growth retardation, and infant death.

We studied paternal exposure to Agent Orange and its dioxin contaminant (2,3,7,8-tetrachlorodibenzo-p-dioxin) and preterm birth, intrauterine growth retardation, or infant death in veterans of Operation Ranch Hand, the unit responsible for spraying herbicides during the Vietnam war. A Comparison group of Air Force veterans who served in Southeast Asia during the same time period and who were not occupationally exposed to herbicides was included. We studied children conceived during or after the father's service in Southeast Asia and based exposure on paternal dioxin measured in 1987 or 1992 extrapolated to the time of conception of the child. We assigned each child to one of four exposure categories: Comparison and three Ranch Hand categories (Background, Low, High). Children in the High (relative risk = 1.3) and Background (relative risk = 1.4) categories were at increased risk of preterm birth. The risk of intrauterine growth retardation was not increased in any exposure category. The risk of infant death was increased in all Ranch Hand children, with the greatest increases in the High (relative risk = 4.5) and Background (relative risk = 3.2) categories. These patterns indicate that the increases in the relative risk of preterm birth and infant death may not be related to paternal dioxin level.

2,4,5-Trichlorophenoxyacetic Acid↗
PubMed1993

Paternal exposures and cardiovascular malformations. The Baltimore-Washington Infant Study Group.

Possible associations between paternal exposures and cardiovascular malformations were evaluated in the Baltimore-Washington Infant Study, a population based case-control investigation of congenital heart disease and environmental factors. Home interviews of case and control parents elicited information on parental home and occupational exposures. Analysis focused on twelve cardiac diagnostic groups and paternal exposures incurred during the six months preceding the pregnancy. Associations were identified between jewelry making and atrial septal defect (Odds ratio: 12.6; 95% confidence interval: 2.3-68.6) and membranous ventricular septal defect (8.1; 2.0-33.3), welding and endocardial cushion defect with Down syndrome (1.8; 1.1-3.0), lead soldering and pulmonary atresia (2.3; 1.1-4.9) and ionizing radiation and endocardial cushion defect without Down syndrome (4.7; 1.7-12.6). Ionizing radiation was found to be associated with endocardial cushion defect with Down syndrome only when father was present at interview (5.6; 1.7-17.9); a similar effect of father at interview was noted for paint stripping in relation to coarctation of the aorta (3.5; 1.5-8.0) and muscular ventricular septal defect (3.5; 1.5-8.5). Also, paint stripping was associated with hypoplastic left heart only in the presence of family history of cardiac defects (11.9; 2.4-60.0). This large study on cardiac diagnostic groups and specific preconceptional exposures provides new leads for further assessment of the role of paternal exposures on adverse pregnancy outcome.

Adult↗
PubMed2002

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

OBJECTIVE: To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP). METHODS: Direct DNA sequencing of the USH2A coding region and microsatellite analysis of polymorphic markers from chromosome 1 and other chromosomes. RESULTS: A patient with RP without hearing loss caused by the homozygous mutation Cys759Phe in the USH2A gene on chromosome 1q was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. Further evaluation with microsatellite markers revealed that the patient had inherited 2 copies of chromosome 1 from her father and none from her mother. The paternally derived chromosome 1's were heteroallelic from the centromere of chromosome 1 to the proximal short and long arms. The distal regions of the short and long arms of chromosome 1 were homoallelic, including the region of 1q with the mutant USH2A allele. This genetic pattern is compatible with a phenomenon of uniparental primary heterodisomy with regions of homozygosity arising through a nondisjunction event during paternal meiosis I and subsequent trisomy rescue or gamete complementation. A paternal second cousin of the patient also had RP and also had an identical heterozygous mutation in the USH2A gene in the same codon. However, the analysis of an isocoding polymorphism 20 base pairs away and closely linked microsatellite markers in the patient and family members indicated that the 2 mutant alleles are unlikely to be identical by descent and that the 2 relatives fortuitously had RP and a mutation in the same codon of the USH2A gene. CONCLUSION: This family illustrates that recessive RP without hearing loss can rarely be inherited from only 1 unaffected carrier parent in a nonmendelian manner. CLINICAL RELEVANCE: The genetic counseling of families with recessively inherited eye diseases must take into consideration the possibility that an unaffected heterozygous carrier can have an affected offspring homozygous for the same mutation, even if the carrier's spouse has wild-type alleles at the disease locus.

Adult↗
PubMed2005

Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma.

CONTEXT: Currently, fetal point mutations cannot be reliably analyzed from circulatory fetal DNA in maternal plasma, due to the predominance of maternal DNA sequences. However, analysis of circulatory fetal DNA sequences in maternal plasma have been shown to selectively enrich for fetal DNA molecules on the basis of a smaller molecular size than maternal DNA. OBJECTIVE: To examine the prenatal analysis of 4 common beta-thalassemia point mutations: IVSI-1, IVSI-6, IVSI-110, and codon 39. DESIGN, SETTING, AND PATIENTS: A total of 32 maternal blood samples were collected at 10 to 12 weeks of gestation (mean, 10.7 weeks) between February 15, 2003, and February 25, 2004, in Bari, Italy, from women with risk for beta-thalassemia in their newborns immediately prior to chorionic villous sampling. Samples in which the father and mother did not carry the same mutation were examined. Circulatory DNA was size-fractionated by gel electrophoresis and polymerase chain reaction (PCR) amplified with a peptide-nucleic-acid clamp, which suppresses amplification of the normal maternal allele. Presence of the paternal mutant allele was detected by allele-specific real-time PCR. MAIN OUTCOME MEASURE: Detection of paternally inherited beta-globin gene point mutations. RESULTS: Presence or absence of the paternal mutant allele was correctly determined in 6 (86%) of 7 cases with the IVSI-1 mutation, 4 (100%) of 4 with the IVSI-6 mutation, 5 (100%) of 5 with the IVSI-110 mutation, and 13 (81%) of 16 with the codon 39 mutation. One false-positive test result was scored for the IVSI-1 mutation. Two cases with the codon 39 mutation were classified as uncertain and 1 case was excluded due to lack of a diagnostic test result at the time of analysis. These results yielded an overall sensitivity of 100% and specificity of 93.8%, with classified cases removed. CONCLUSION: Our recently described technique of the size-fractionation of circulatory DNA in maternal plasma may be potentially useful for the noninvasive prenatal determination of fetal point mutations.

Chorionic Villi Sampling↗
PubMed1996

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11).

Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and nonvisualization of the fetal stomach. Post-natally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14.

Cardiomyopathy, Hypertrophic↗
PubMed1999

Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy.

Uniparental disomy (UPD) is the abnormal inheritance of two copies of a chromosome from the same parent. Possible mechanisms for UPD include trisomy rescue, monosomy rescue, gametic complementation, and somatic recombination. Most of these mechanisms can involve rearranged chromosomes, particularly isochromosomes and Robertsonian translocations. Both maternal and paternal UPD have been reported for most of the acrocentric chromosomes. However, only UPD for chromosomes 14 and 15 show an apparent imprinting effect. Herein, we present two cases of paternal UPD 13 involving isochromosomes. Both cases were referred for UPD studies due to the formation of a de novo rea(13q13q). Case 2 was complicated by the segregation of a familial rob(13q14q) of maternal origin. Both propositi were phenotypically normal at the time of examination. Polymorphic marker analysis in Case 1 showed the distribution of alleles of markers along chromosome 13 to be complete isodisomy, consistent with an isochromosome. This rearrangement could have occurred either meiotically, without recombination, or mitotically. A likely mechanism for UPD in this case is monosomy rescue, through postzygotic formation of the isochromosome. In Case 2 the distribution of proximal alleles indicated an isochromosome, but recombination was evident. Thus, this isochromosome must have formed prior to or during meiosis I. A likely mechanism for UPD in this case is gametic complementation, since the mother carries a rob(13q14q) and is at risk of producing aneuploid gametes. However, trisomy rescue of a trisomy 13 conceptus cannot be completely excluded. Given that both cases were phenotypically normal, these data further support that paternal UPD 13 does not have an adverse phenotypic outcome and, thus, does not show an apparent imprinting effect.

Alleles↗
PubMed1996

Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin.

We present the first case of an infant with paternally-derived mosaic trisomy 16. Amniocentesis following an elevated maternal serum alpha-fetoprotein level and early fetal growth restriction at 19 weeks detected a high level of mosaicism with 25/33 colonies demonstrating trisomy 16 and 8/33 colonies with a normal 46,XX karyotype. Molecular studies revealed a paternal origin of the trisomy which was present in amniotic fluid cells, representing either a post-zygotic error or a meiosis II non-disjunction without crossing-over. In addition, there was normal biparental inheritance in the normal cell line. The symmetrically growth-restricted fetus was closely monitored for the remainder of the gestation. Decreased fetal movements at 36 weeks in conjunction with electronic fetal monitoring showing evidence of fetal distress necessitated abdominal delivery. Severe growth restriction, mild facial dysmorphism, and cardiac anomalies were identified. Microsatellite analysis demonstrated biparental inheritance in skin fibroblasts with a paternal origin for the trisomy in the placenta. Follow-up cytogenetic studies of additional tissues revealed 85 per cent trisomy 16 mosaicism in the placenta, yet only cytogenetically normal cells in lymphocytes and fibroblasts.

Amniocentesis↗
PubMed1996

Maternal exposure to paternal HLA does not explain the postpartum increase in rheumatoid arthritis.

The postpartum period, particularly after the first pregnancy, represents a time of increased risk for the development of rheumatoid arthritis (RA). The present study was undertaken to investigate whether this increase in risk may be due to maternal exposure to fetally inherited paternal HLA-DR antigens that were either 1) similar to their own or 2) had an increased likelihood of being one of the two specific types, HLA-DR1 and DR4, implicated in the etiology of RA. We recruited 94 families where the mother had developed RA within 12 months of a pregnancy, and HLA typed the mother, father, and relevant child of each family. Mothers were not more likely to share HLA-DR genes with their partners than would be expected, and children whose parents shared one HLA-DR gene were not more likely to inherit the shared gene from their father as opposed to the non-shared gene. Further, those children whose fathers were heterozygous for HLA-DR1 or DR4 were not more likely to inherit these genes as opposed to the non-DR1/DR4 gene. In conclusion, maternal exposure during pregnancy to either fetally inherited paternal HLA-DR1 and DR4 genes or to paternal DR genes similar to their own does not appear to contribute to postpartum maternal susceptibility of RA.

Arthritis, Rheumatoid↗
PubMed1997

Paternal transmission of the mouse Thp mutation is lethal in some genetic backgrounds.

Thp is a large deletion on chromosome 17 which includes the maternal lethal gene Tme. Documentation of inheritance patterns suggests that Tme is an imprinted gene which is required for viability; maternal deletion is lethal while paternal deletion is viable. However, paternal transmission of Thp is rarely the expected 50%. We show here that paternally inherited Thp is lethal in some strains, providing evidence of an incompletely penetrant, dosage sensitive lethal allele of a locus that probably maps to the hairpin tail region of chr. 17. Interpretation of the various phenotypes associated with loss of the putative Tme gene, Igf2r, may need to be revised in view of these observations.

Abnormalities, Multiple↗
PubMed1991

Paternal occupation and congenital anomalies in offspring.

This paper presents the results of an exploratory case-control study of paternal occupation as a risk factor for birth defects in offspring. With the use of a population-based registry in British Columbia, 14,415 liveborn children with birth defects were identified for the period, 1952-1973. Two controls were matched to each case by using the birth files of British Columbia. Paternal occupation was obtained from the birth certificate. The analysis included 20 birth defect categories. Paternal occupations found to be associated with an increased odds ratio (OR) of birth defects include janitors [hydrocephalus (OR = 5.04), ventricular septal defects (OR = 2.45), other heart defects (OR = 2.35)], forestry and logging workers [congenital cataract (OR = 2.28), atrial septal defects (OR = 2.03), syndactyly (OR = 2.03)], painters [spina bifida (OR = 3.21), patent ductus arteriosus (OR = 2.34), cleft palate (OR = 3.36)], printers [atresia of the urethra (OR = 4.50), clubfoot (OR = 2.18)], and plywood mill workers [patent ductus arteriosus (OR = 2.52), pyloric stenosis (OR = 4.12), dislocated hip (OR = 2.71)]. This study has several limitations and the results must be viewed with caution. Nonetheless, the study provides new leads for further evaluation of the role of father's occupation in the etiology of birth defects.

British Columbia↗
PubMed1993

Childhood cancer and paternal exposure to ionizing radiation: preliminary findings from the Oxford Survey of Childhood Cancers.

Paternal occupational data already collected as part of the Oxford Survey of Childhood Cancers have been reviewed. Information on occupations during or before the relevant pregnancy was sought for 15,279 children dying from cancer in England, Wales, and Scotland in the period 1953-81, and for an equal number of matched controls. Estimates were made for paternal exposure to human-made external ionizing radiation in the six months before conception of the survey child--as judged from job histories and dates of birth. Assessments were also made for potential exposure to unsealed sources of radionuclides. Of the eight fathers placed in the highest dose group (> or = 10 mSv, external radiation), four were cases and four were controls. For the second dose group (5-9 mSv), the corresponding numbers were eight and four, and for the lowest exposed group (1-4 mSv), they were 55 and 42. There were 27 case fathers with potential exposure to radionuclides and only 10 control fathers. The independent effects of the two radiation variables were assessed by means of multiple logistic regression. Relative risks for estimated doses of external radiation were close to unity, but for radionuclide exposure the relative risk was 2.87 (95% CI = 1.15-7.13). These preliminary findings suggest that paternal exposure to radionuclides is a more likely risk factor for childhood cancer than exposure to external radiation.

Adult↗