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PubMed1995

The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH.

We studied the frequencies of X- and Y-chromosome-bearing sperm, diploidy and disomy for chromosomes 1, 12, X, and Y in sperm from 10 normal men aged 21-52 years, to determine whether there was any relationship between donor age and any of these variables. Multicolor FISH was used to control for lack of probe hybridization and to distinguish diploid sperm from disomic sperm. A minimum of 10,000 sperm per donor was evaluated for each chromosome, for a total of 225,846 sperm studied. Sperm were considered disomic if two fluorescent signals were separated by a minimal distance of one signal domain. The mean frequencies of X- and Y-bearing sperm were 50.1% and 49.0%, respectively; not significantly different from 50%. There was no correlation between paternal age and "sex ratio" in sperm. Similarly, there was no association between the frequency of diploid sperm (mean, .16%; range, .06-.42%) and donor age. For disomy frequencies, there was no relationship between donor age and disomy 12 (mean, .16%; range, .10%-.25%), XX (mean, .07%; range, .03%-.17%), and XY sperm (mean, .16%; range, .08%-.24%). There was a significant increase in the frequency of YY sperm (P = .04; mean, .18%; range, .10%-.43%) and disomy 1 sperm (P = .01; mean, .11%; range, .05%-.18%) with donor age. In summary, our results do not support a correlation between paternal age and sex ratio or diploidy.

Adult↗
PubMed1996

Two deficiency cases of disputed paternity: sibling or half-sibling?

We report briefly the results of DNA analysis in two cases of disputed paternity where the alleged father and the mother were dead and only the children were available. In one case, half-sibship was established by minisatellite typing with a multi-locus probe and microsatellite FGA typing. In the other case, Y27H39 typing revealed that the fathers of the two male children were different. DNA polymorphisms, especially at microsatellite loci, provide useful information to solve such paternity cases.

Base Sequence↗
PubMed1996

[Determination of biological paternity yesterday and today].

The paper deals with methodical development of expertise in cases of disputed paternity. Presently used approaches to paternity testing were introduced following deeper understanding of heredity of human features as well as development of new methods of their studying. While the genetic characterization of individuals tested was till recent time limited to the level of gene products, in the present also direct molecular genetic analysis of their genome is possible. The most frequently used molecular genetic technique is Polymerase Chain Reaction (PCR) which leads to multiplication of chosen hypervariable regions of DNA followed with direct with following direct detection of polymorphic alleles. Examination of several DNA polymorphisms provides an exclusion of all falsely accused men and in opposite cases a practical proof of parenthood. That is the reason why the world-wide trends of forensic medicine tend to consecutive replacement of all procedures use until now with methods of molecular genetics.

DNA Fingerprinting↗
PubMed1998

Paternal directional mating in two Amerindian subpopulations located at different altitudes in northwestern Argentina.

We used mitochondrial DNA (mtDNA) and Y-chromosome DNA polymorphisms to analyze the ethnic origin of maternal and paternal lineages in two Amerindian subpopulations from northwestern Argentina. One of the subpopulations was from San Salvador de Jujuy, located 1200 m above sea level. The second subpopulation inhabits the Quebrada de Humahuaca area at altitudes ranging from 2500 to 3500 m. Both subpopulations have the same ethnic background. All mtDNA haplotypes were identified as Amerindian with a frequency of 64.6% of the B form (9-bp deletion in mtDNA region V). Because all Central Andean Amerindian populations studied so far exhibit high frequencies of the B haplotype, we propose that they probably are derived from a common ancestral population that inhabited the Central Andes 6000-8000 years B.P. The presence of paternal directional mating (asymmetric contribution of one parental lineage to interethnic gene mixtures) was demonstrated by the finding of an average introgression of 40.5% Spanish Y chromosomes into our Amerindian sample. This introgression was more evident at low altitude than at high altitude, with frequencies of 64.3% in San Salvador de Jujuy (low altitude) and 27.6% in Quebrada de Humahuaca (high altitude) (p < 0.05). The San Salvador de Jujuy subpopulation also showed a significantly higher Y-chromosome gene variability than the Quebrada de Humahuaca subpopulation. These findings are in good agreement with historical reports indicating that the colonization of South America was undertaken by men who usually practiced polygamous unions with Amerindian women and that San Salvador de Jujuy was the main northwestern Argentinian region of European to Amerindian gene admixture. We found 16.7% of cases with Spanish Y chromosomes and Amerindian family names, and the same percentage with Amerindian Y chromosomes and Hispanic names. The former group probably is the result of unions between Hispanic men, who transmitted the Y chromosome, and Amerindian women, who transmitted the family name to the progeny. The latter group likely illustrates the practice of changing names from Amerindian to Hispanic during the baptism of native Americans in colonial times.

Adult↗
PubMed1991

Association of decreased paternal age and late-onset Alzheimer's disease. An example of genetic imprinting?

Several studies have identified advanced maternal age as a risk factor for Alzheimer's disease. This study evaluated maternal and paternal age at birth of 237 patients with Alzheimer's disease, each of whom was matched to five control subjects based on sex, year of birth, survival age, and location of residence. It was found that decreased paternal age substantially increased the susceptibility to the common form of Alzheimer's disease that occurs after the age of 67 years, whereas advanced maternal age had a negligible effect on risk of Alzheimer's disease. The higher incidence of late-onset Alzheimer's disease among persons born to younger fathers is consistent with a genetic imprinting mechanism involving DNA methylation. The proposed model postulates a role for environmental agents in the pathogenesis of Alzheimer's disease and accounts for families that show an aggregation of cases but no apparent pattern of inheritance.

Adult↗
PubMed1993

Paternal and maternal genetic and environmental contributions to cerebrospinal fluid monoamine metabolites in rhesus monkeys (Macaca mulatta).

BACKGROUND: To study genetic and environmental contributions to cerebrospinal fluid (CSF) monoamine concentrations, 55 young rhesus monkeys (Macaca mulatta) were reared apart from their 10 fathers to perform a paternal half-sibling analysis. METHODS: To study maternal genetic contributions, 23 infants were reared with their mothers, 23 infants were removed from their mothers at birth and fostered to unrelated lactating female monkeys, and 24 infants were removed from their mothers at birth and reared with age-matched peers. When the monkeys reached age 6 months, CSF samples were obtained via cisternal puncture prior to and during a series of social separations. RESULTS: When the results were statistically pooled according to the biological father, comparisons using analysis of variance indicated that both CSF 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA) concentrations showed significant heritable (h2) effects (h2 > 0.5) for both sons and daughters, whereas 3-methoxy-4-hydroxyphenylglycol (MHPG) showed a nearly significant paternal genetic effect only for sons (h2 > 0.5). In addition, there were substantial maternal genetic influences on the young monkeys' CSF MHPG and 5-HIAA (h2 > 0.5) levels. Structural equation analyses indicated a maternal genetic contribution without a maternal environmental contribution to CSF 5-HIAA concentration; on the other hand, there was both a maternal genetic and environmental contribution to MHPG. CONCLUSIONS: These findings suggest that a significant portion of the variance in the turnover of the monoamine neurotransmitters is determined by genetic mechanisms.

Animals↗
PubMed1997

Paternal uniparental disomy for chromosome 14: a case report and review.

Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have been reported. We describe a new case of paternal UPD for chromosome 14 in an infant with a 45,XX,der(13q;14q) karyotype, which was confirmed by molecular analysis. The proposita had findings similar to those of the previous cases of patUPD14 and we conclude that there is a characteristic patUPD14 syndrome most likely due to imprinting effects. Couples with Robertsonian translocations involving chromosome 14 should be counseled as to the possibility of UPD14 and the option of prenatal diagnosis when indicated.

Abnormalities, Multiple↗
PubMed1997

"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.

We report a de novo dup(X)(q23-->q26) in a 3-year-old girl with growth retardation, developmental delay, and minor anomalies. X-inactivation in lymphocytes by BRDU labeling showed the abnormal X was late replicating. The androgen receptor assay (HAR) demonstrated a skewed methylation (88.8%) of the paternal allele and a 11.2% methylation of the maternal allele. These data, which suggest the duplication was paternally inherited, are the first parental-origin identification of a duplication Xq. The mild phenotype of the patient may be related to the size and region of the duplication, the low percentage of a dup(X) active detected by the HAR assay, or a combination of these mechanisms.

Alleles↗
PubMed1998

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Genomic imprinting of chromosome arm 11p is involved in the Wiedemann-Beckwith syndrome (WBS). About 20% of patients with sporadic WBS have paternal uniparental disomy (UPD) of 11p. Mitotic recombination at the 11p region has been suggested to be responsible for the somatic mosaicism in these patients. Our current study concerning sporadic WBS patients demonstrated six patients with mosaic isodisomy restricted to part of 11p and one patient with mosaic paternal uniparental disomy for the whole chromosome 11. Apparently the clinical findings for this patient did not differ from data reported for other WBS patients. This case makes it unlikely that the proximal short arm and the long arm of chromosome 11 contain imprinted genes with a phenotype recognizable prenatally or in infancy, and gives some support to the hypothesis that non-mosaic UPD-11 is prenatally lethal.

Beckwith-Wiedemann Syndrome↗
PubMed1997

An investigation of the effect of paternal occupation group at conception on birth weight and gestational age. ALSPAC Study Team of Pregnancy and Childhood.

The occupational histories of fathers were collected prospectively as part of the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC), and were used to investigate the association of paternal job title with a baby's birth weight and gestational age. The analysis cohort consisted of 4,795 singleton live-born babies whose fathers responded fully to questionnaire items regarding occupational history. Jobs were coded using the British Standard Occupational Codes and classified into nine major occupational groups. A 73-gram difference (95% CI: 0.16, 145.17) was found between the mean birth weight of full-term babies born of professional fathers (3,543 gm) and of fathers working in craft and related occupations (3,470 gm). This difference decreased and lost significance after controlling for sociodemographic variables. No difference was found in the mean birth weight of preterm babies, or in the rate of preterm delivery, when analyzed by paternal occupation at conception. Our results suggest that when important sociodemographic variables are known, the father's job title alone may not be a useful predictor of birth weight or preterm delivery.

Birth Weight↗
PubMed2000

Configuration of maternal and paternal chromatin and pertaining microtubules in human oocytes failing to fertilize after intracytoplasmic sperm injection.

The microtubules and chromosomes of 180 human oocytes failing to fertilize after intracytoplasmic sperm injection were observed in order to establish how sperm chromatin and sperm astral microtubule configuration is related to the phases of oocyte cell cycle, and to find the defects in those structures causing fertilization arrest. As many as 125 (69%) oocytes were arrested at metaphase II. In one-fourth of them, damages of the second meiotic spindle were noted. In their cytoplasm intact sperm were found in 38 (30%) cases, a swollen sperm head in 36 (29%) and prematurely condensed sperm chromosomes (G1-PCC)-a result of active mitosis promoting factor (MPF)-in 51 (41%) cases. G1-PCC were mostly (73%) surrounded by the bipolar paternal spindle instead of astral microtubules. A male pronucleus was never presented in metaphase II oocytes. In 19 (11%) oocytes, arrested at anaphase II, no intact sperm were found. As many as 9 (47%) oocytes contained sperm in G1-PCC form, which proves that anaphase II oocytes mostly retain active MPF, despite oocyte activation. As many as 78% of 36 monopronucleate oocytes contained sperm, with delay in the process of sperm nucleus decondensation. Sperm in G1-PCC form and a bipolar paternal spindle were never found in monopronucleate oocytes. From this we conclude that sperm that does not activate the oocyte may continue decondensing the chromatin, but the oocyte prevents male pronucleus formation before the female one, mostly by causing PCC in the sperm and by duplicating the sperm centrosome. Mol. Reprod. Dev. 55:197-204, 2000.

Cell Cycle↗
PubMed1999

Excessive paternal transmission in psoriatic arthritis.

OBJECTIVE: The differential expression of a disease according to the sex of the disease-transmitting parent has been demonstrated in several autoimmune disorders. The purpose of the present study was to determine whether there are differences in the transmission and expression of psoriatic arthritis (PsA) that are dependent on the sex of the affected parent. METHODS: All probands (patients with PsA) were identified from among the patients attending the University of Toronto Psoriatic Arthritis Clinic. A self-reported family history of psoriasis or PsA was noted for each proband. Differences in parental and offspring transmission with respect to the proband were evaluated. In addition, the expression of PsA according to the sex of the affected parent was assessed at the time of the proband's presentation to the clinic. RESULTS: Ninety-five probands had affected parents: 62 (65%) had an affected father, and 33 (35%) had an affected mother. Thus, the proportion of paternal transmission (0.65) was significantly greater than was expected (0.5) (P = 0.001). Twelve of 74 offspring from male probands (16.2%) were affected with psoriasis or PsA, as compared with 9 of 108 offspring from female probands (8.3%) (P = 0.10). Probands whose fathers were affected had a higher frequency of skin lesions prior to arthritis (P = 0.047), an erythrocyte sedimentation rate > 15 mm/hour (P = 0.044), and a lower incidence of rheumatoid factor (P = 0.044). No differences were noted with respect to age at the onset of psoriasis or PsA, the severity of the PsA, or the frequency of HLA antigens. CONCLUSION: There appears to be excessive paternal transmission in PsA. Further clinical confirmation and elucidation of its genetic basis is warranted.

Adult↗
PubMed1994

Review of epidemiologic studies of paternal occupational exposure and spontaneous abortion.

The question of whether paternal exposures influence risk of spontaneous abortion is of great public interest, with the possibility supported by laboratory investigations. Thirty-nine studies of male occupational exposure and risk of spontaneous abortion were examined, with the methods and results tabulated. Many of those reports were limited by exposure data based on maternal report of the father's job title or by potentially inaccurate paternal reports of spontaneous abortion, though the quality of more recent studies is markedly enhanced. Mercury has been implicated most strongly based on recent studies that included quantitative exposure estimates; a number of studies showing associations for exposure to anesthetic gases. Suggestive associations have also been found inconsistently for exposure to lead, rubber manufacturing, selected solvents, and some pesticides. Further study is encouraged, but with more intensive effort to measure accurately both spontaneous abortion and occupational exposures.

Abortion, Spontaneous↗
PubMed2002

Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.

Myotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide repeat disorder that shows anticipation. The mildest manifestations of the DM gene are usually noted in individuals with the smallest repeat sizes, while congenital myotonic dystrophy (CDM) is the most common clinical outcome of the larger expansions. For many years, it was thought that CDM could only be maternally transmitted. However, in the last few years, cases of paternal transmission of CDM have been described. We report a child with the CDM phenotype and 1, 800 CTG repeats born to an asymptomatic father with 65 repeats and compare this case to the four currently in the literature. We note that polyhydramnios was present in the majority of cases and that all fathers whose status was known had small repeat sizes and/or were asymptomatic at the time of their child's birth. Although it may be unusual, the possibility of the paternal transmission of CDM should be mentioned when counseling families with DM. The men who are at highest risk may be those who have small repeats sizes and are asymptomatic.

Adult↗
PubMed2002

Paternal UPD14 is responsible for a distinctive malformation complex.

We present a boy and two girls with paternal uniparental disomy of chromosome 14q (patUPD14). One girl had a Robertsonian translocation, whereas two a normal karyotype. Based on the manifestations of these patients and four previously reported patients who all had translocated chromosome 14, The patUPD14 was thought to constitute a distinctive syndrome. The hallmarks included abdominal muscular defects, skeletal anomalies, and characteristic facies. The phenotype of patUPD14 was consistent with that of a previously reported mouse model, i.e., mouse embryos with paternal uniparental disomy of chromosome 12 that has a region orthologous to that of human chromosome 14. Dose effects of newly recognized imprinted genes on human chromosome 14q32, DLK1 and GTL2, could play an important role in the pathogenic mechanism of the distinctive malformation complex.

Abnormalities, Multiple↗
PubMed2006

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

We report on the first case of fumarase deficiency (FD) caused by uniparental isodisomy. An affected patient was found to be homozygous for the P131R mutation in the FH gene. In this nonconsanguineous family, the unaffected father was found to be heterozygous for the same mutation, and the mother was found to be homozygous wild-type. Analysis of chromosome 1 markers showed that the patient inherited both paternal alleles with complete absence of the maternal homolog. The two copies of the paternal chromosome 1 are heterodisomic for most of the chromosome except the distal 1q region which is isodisomic for the mutant alleles of the FH gene. The genotypes of other chromosome markers are consistent with the patient inheriting alleles from both parents. Although FD is an autosomal recessive disorder, the effects of uniparental disomy (UPD) should be considered in genetic counseling since the recurrence risk of an affected child is significantly reduced when the disorder is due to UPD.

Base Sequence↗
PubMed2007

Reelin gene polymorphisms in the Indian population: a possible paternal 5'UTR-CGG-repeat-allele effect on autism.

Autism is a neurodevelopmental disorder with high heritability factor and the reelin gene, which codes for an extracellular matrix protein involved with neuronal migration and lamination is being investigated as a positional and functional candidate gene for autism. It is located on chromosome 7q22 within the autism susceptible locus (AUTS1); identified in earlier genome scans and several investigations have been carried out on various ethnic groups to assess possible association and linkage of the gene with autism. However, the findings are still inconclusive. In the present study which represents the first report of such a study on the Indian population, genotyping analyses of CGG repeat polymorphism at 5'UTR, two single nucleotide polymorphisms (SNP) at exon 6 and exon 50 were performed in 73 autistic subjects, 129 parents, and 80 controls. The allelic distributions of the repeat polymorphism and exon 50 T/C SNP were quite different from earlier reports in other populations. Allelic and genotypic distribution of the markers did not show any differences between the cases and controls. While our preliminary data on family-based association studies on 58 trios showed no preferential transmission of any allele from the parents to the affected offspring, TDT and HHRR analyses revealed significant paternal transmission distortions for 10- and > or =11-repeat alleles of CGG repeat polymorphism. Thus, the present study suggests that 5'UTR of reelin gene may have a role in the susceptibility towards autism with the paternal transmission and non-transmission respectively of 10- and > or =11-repeat alleles, to the affected offspring.

5' Untranslated Regions↗