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PubMed2006

SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.

Autosomal dominant Townes-Brocks syndrome (TBS) is characterized by imperforate anus, triphalangeal and supernumerary thumbs, dysplastic ears and sensorineural hearing loss, and may also involve other organ systems. Strong inter- and intrafamiliar variability is known. Approximately 50% of TBS cases are sporadic and due to de novo mutations in the SALL1 gene. SALL1 encodes a zinc finger protein operating as a transcriptional repressor and localizing to pericentromeric heterochromatin. We traced the parental origin of SALL1 mutations in sporadic TBS by analysis of linkage between SALL1 mutations and exonic or intronic polymorphisms in 16 families with 10 different mutations. Mutations were of paternal origin in 14 of 16 cases (87.5%). Paternal origin was independent of the mutation type. The mean paternal age at conception was 29.9 and the mean maternal age 26.5 years. We conclude that de novo mutations in SALL1 mostly occur on the paternally derived chromosome 16 without an obvious age effect.

Abnormalities, Multiple↗
PubMed1993

Paternity testing with VNTR DNA systems. II. Evaluation of 271 cases of disputed paternity with the VNTR systems D2S44, D5S43, D7S21, D7S22, and D12S11.

Paternity testing was carried out in 271 cases of disputed paternity using the 5 VNTR systems D2S44 (YNH24), D5S43 (MS8), D7S21 (MS31), D7S22 (g3), and D12S11 (MS43a), and 10-15 conventional marker systems including the HLA-A,B system. By means of the matching criteria for the VNTR systems established elsewhere (Morling & Hansen 1992), all 70 unrelated men who had been excluded by conventional typing were also excluded with 2 or more VNTR systems. Based on the observed exclusion frequencies for the 5 VNTR systems, a theoretical exclusion rate exceeding 0.999 could be obtained. A total of 350 father/child pairs were studied and in 3 paternity cases and one immigrant family, the alleged fathers were excluded solely by one of the 5 VNTR systems possibly reflecting mutations. No mother/child exclusions were observed among 350 mother/child pairs. Linkage analysis between the syntenic systems D7S21 (MS31) and D7S22 (g3) was performed in 29 informative families with 81 children and revealed a recombination distance of about 31 cM. The positive evidence for paternity provided by the 5 VNTR systems in cases with non-exclusions is discussed.

Adult↗
PubMed2003

Birthweight of offspring and paternal insulin resistance and paternal diabetes in late adulthood: cross sectional survey.

AIMS/HYPOTHESIS: It has been proposed that genetic factors involved in insulin action could explain part of the link between low birthweight and risk of cardiovascular disease and diabetes in adulthood. To confirm this we examined the association between offspring birthweight and paternal insulin resistance and diabetes in late adulthood. METHODS: We did a cross-sectional survey of 4252 men who were 60 to 79 years of age and from 24 British towns. Of these, 2788 men provided details of their offsprings' birthweight and sex. RESULTS: Offspring birthweight was inversely associated with paternal insulin resistance defined by the homeostasis model assessment (HOMA) score and with Type 2 diabetes in late adulthood. Fathers of offspring in the highest quartile of sex-standardised birthweight SD scores had a 34% reduction in odds of having a high HOMA insulin resistance score (OR=0.66, 95% CI: 0.47 to 0.92) compared with fathers of offspring in the lowest quartile after adjustment for potential confounders. A stronger inverse association was seen between offspring birthweight and risk of paternal diabetes (adjusted OR=0.59, 95% CI: 0.39 to 0.88 top quartile vs lowest quartile). For each increase of offspring-birthweight SD score the odds of high HOMA scores decreased by 13% (OR=0.87, 95% CI: 0.78 to 0.98) and the odds for diabetes by 17% (OR=0.83, 95% CI: 0.72 to 0.95), after full adjustment. CONCLUSIONS/INTERPRETATION: Offspring birthweight is inversely associated with paternal insulin resistance and diabetes in late adulthood, supporting the hypothesis that genetic factors related to insulin action contribute to the association between birthweight and adult cardiovascular disease and diabetes risk.

Aged↗
PubMed1978

[Paternity index. Application to a sample of 48 trios presumptive father-mother-child. Study of the relationship between the probability of paternity and the percentage of exclusion].

Two different indices are of interest in paternity diagnosis. 1. The proportion of men whose paternity is excluded by mother and child phenotypes. 2. The posterior probability of paternity, obtained by a bayesian process from the phenotypes of putative father, mother and child. These two indices are different, and it is proposed that the first one be used for gauging the value of the second. Two examples of the method are given: first, a sample of 48 putative father-mother-child trios, observed in the probability of paternity versus proportion of excluded men plane at different steps on the laboratory examinations, second, the figure obtained for a child for whom two putative fathers were at examination.

Paternity↗
PubMed1984

Paternity index and attribution of paternity.

If blood typing and similar tests do not exclude a putative father in a paternity case, his probability of paternity can be assessed with the formulae of Essen-Möller[1938]. Gürtler[1956] uses an alternative route, viz. the paternity index, to reach identical end results. Majumder and Nei [1983] claim that the methods are not powerful enough. This opinion can always be defended, but may have been enhanced by their inadequate computer model. They also contend that current methods may more often than not lead to false attributions of paternity. This is outright erroneous.

Computers↗
PubMed1996

Paternity exclusion by DNA markers: effects of paternal mutations.

In parentage testing when one parent is excluded, the distribution of the number of loci showing exclusion due to mutations of the transmitting alleles is derived, and it is contrasted with the expected distribution when the exclusion is caused by nonpaternity. This theory is applied to allele frequency data on short tandem repeat loci scored by PCR analysis, and VNTR data scored by Southern blot RFLP analysis that are commonly used in paternity analysis. For such hypervariable loci, wrongly accused males should generally be excluded based two or more loci, while a true father is unlikely to be excluded based on multiple loci due to mutations of paternal alleles. Thus, when these DNA markers are used for parentage analysis, the decision to infer non-paternity based on exclusions at two or more loci has a statistical support. Our approach places a reduced weight on the combined exclusion probability. Even with this reduced power of exclusion, the probability of exclusion based on combined tests on STR and VNTR loci is sufficiently large to resolve most paternity dispute cases in general populations.

Adult↗
PubMed1982

[Introduction of a Standardized "Paternity Index" for the Statistical Evaluation of Blood Group Findings in Paternity Testing (author's transl)].

The introduction of a standardized paternity in index (PI) for the statistical evaluation of blood group findings in cases of disputed paternity is proposed and explained. Using the PI X/Y as a parameter, it is not necessary to give the probability of paternity in percent. The PI includes the full information of the blood group findings. In addition to that, using the suggested standardization based on the probabilities of error according to Schulte Mönting and Walter, the test volume is also taken into account. The interpretation of the mathematical result is given by verbal predicates, the limitations of which are dependent on the verbal predicates for the probabilities of error according to Schulte Mönting and Walter, published by us previously. Besides the essential fact that the test volume is taken into account, the most important advantage of this procedure is that the mathematical result is involved in the court decision only by the PI (which is free of any valuation) and its verbal predicate and not by sometimes relatively high percentages, which may be misunderstood by laymen.

Blood Group Antigens↗
PubMedDate not supplied

Introduction of a standardized "paternity index" for the statistical evaluation of blood group findings in paternity testing.

The introduction of a standardized paternity index (PI) for the statistical evaluation of blood group findings in cases of disputed paternity is proposed and explained. By using the PI X/Y as parameter, it is not necessary to give the information of the probability of paternity in percent. The PI includes the full information of the blood group findings. In addition to that, by using the suggested standardization based on the probabilities of error according to Schulte Mönting and Walter the test volume is also taken into account. The interpretation of the mathematical result is given by verbal predicates, the limitations of which are orientated by the verbal predicates for the probabilities of error according to Schulte Mönting and Walter, published by us elsewhere. Besides the essential fact that the test volume is taken into account, the most important advantage of this procedure is that the mathematical result is involved in the court decision only by the PI (which is free of any valuation) and its verbal predicate and not by sometimes relatively high percentages, which may be misunderstood by laymen.

Blood Group Antigens↗
PubMed1981

Use of odds of paternity computations in determining the reliability of single exclusions in paternity testing.

In parentage determination with genetic markers the concept of paternity index is used to evaluate the relative likelihood of fathership of an accused male individual. When a battery of genetic tests are performed, the event of inadvertant technical errors or the occurrence of suppressor genes that cause an apparent paternity exclusion of the male concerned reduces this likelihood to zero. However, through a study of statistical properties of the paternity index statistic based on the other genetic systems, it is possible to examine the reliability of one or a few such apparent exclusions. The details of this approach is examined here by analytical methods following the statistical principles of likelihood ratio test procedures. Some illustrative data are also analyzed to show the practical utility of this approach.

Alleles↗
PubMedDate not supplied

[Microsatellite DNA analysis as a tool for forensic paternity testing (DNA paternity testing)].

UNLABELLED: MICROSATELLITE ANALYSIS: By using serological or HLA-testing, the alleged father can be excluded as the biological father, but, regardless of the degree of probability, positive paternity results cannot be obtained without DNA testing. According to the results of the National Human Genome Project, human genome consists of approximately 30.000 genes. The vast majority of human DNA is not organized in genes and has no genetic expression or visible function. Non-coding DNA contains genetic markers important for human identification. Short tandem repeats, or STRs, are a class of microsatellites consisting of tandemly repeated sequences of 2 to 6 base pair length monomers. Most of the microsatellites show a high degree of polymorphism, which can be evaluated by PCR technique, and used in criminalistics, forensic identification and parentage testing. A source of DNA in parentage testing are blood samples or buccal swabs which are routinelly used. Amplification of isolated DNA can be performed in 25-30 cycles by PCR, and fragments are separated by capillary electrophoresis. CONCLUSION: The probability of paternity of 99.99% or higher corresponds to the paternity "practically proven", indicating that the alleged father is the biological father. Such results can be obtained only by DNA testing. DNA-testing laboratories are required to conduct validation of laboratory facilities, equipment and staff and are subject to permanent control by the society.

DNA↗
PubMed1991

[Diagnosis of paternity by deduction of the probable genotype of the deceased person from the relatives--in addition to the examination of the Essen-Möller value and diagnosis of paternity based on the probability distribution of log (Y/X)].

1) The present paper deals with the general formulas of paternity probability, applicable to any cases where the putative man and/or the plaintive mother are deceased, using the blood types of various relatives. Two typical examples are described. 2) Bayes's theorem is applied to the calculation of probability of paternity using the Essen-Möller's formula, in which a putative father is to be compared with any one of the men in the general population whose blood types are unidentified. Statistically, those men are supposed to have any one of several blood types, depending on the frequency of occurrence of those types. This means that their blood types include the blood type of the putative father. According to Bayes's theorem, however, probability calculations are valid only when the two types to be compared are mutually exclusive. Consequently, the theorem should not be applied to probability calculations using the Essen-Möller's formula. 3) A new basis of judgement for the diagnosis of paternity is proposed using the probability distribution of the relative frequencies of log (Y/X) for true father and that for non-father.

Blood Group Antigens↗
PubMedDate not supplied

Paternity exclusion and probability of paternity.

The principles of paternity exclusion and current systems of paternity testing are reviewed. Recent advances, especially the utilization of human leukocyte antigens (HLA), have greatly improved the likelihood of exclusion of the innocent accused male. Failure to exclude an alleged father through multiple test systems increases the suspicion that he is the biological father. This can be expressed mathematically as the Probability of Paternity, for which the principle of calculation is explained. Legal obligations of the laboratory are briefly explored.

Blood Group Antigens↗
PubMed1983

Paternity testing: I. Calculation of paternity indexes.

An algorithm, readily adaptable to microcomputers, is given for computing paternity indexes. A closed-form expression based only on gene frequencies and phenotype structures is derived for the paternity index for a given mother/child/alleged father trio and any blood group system. This above work is applied to the problem of estimating gene frequencies from sample data.

Blood Group Antigens↗
PubMed1977

[Calculation of the Chance of paternity exclusion and of the probability of paternity for the HLA system (author's transl)].

The genetics of the serological defined SD antigens of the HLA system, which are governed by three closely linked loci (HLA-A, HLA-B and HLA-C) situated on the chromosome C6, are described. Regarding patermity testing, only the antigens coded by the loci HLA-A and HLA-B are used routinely up to now. Because of the strong linkage disequilibrium between these two loci, they cannot be considered as independent. The influence of the linkage disequilibrium on the calculation of the chance of paternity exclusion and of the plausibility of paternity is discussed and demonstrated in several examples.

Adult↗
PubMed1977

[Calculation of the probability of paternity and of the chance of paternity exclusion for the HLA system using only the typing results from the child and the putative father (author's transl)].

A method for the calculation of the probability of paternity for the HLA system using only the typing results from the child and the putative father, without taking into account the data of the mother, is presented. Furthermore, the usability of the formulas by Mayr and Pausch (Z. Immun.-Forsch. 150, 447 (1975)) for the computation of the chance of paternity exclusion in such cases is demonstrated.

Austria↗
PubMed2002

Relating paternity to paternal care.

Intuition suggests, to most people, that parents should be selected to care for their offspring in relation to how certain they are of being the parents of those offspring. Theoretical models of the relationship between parental investment and certainty of parentage predict the two to be related only when some other assumptions are made, few of which can be taken for granted. I briefly review the models and their assumptions, and discuss two kinds of difficulty facing an empiricist wishing to test the models. The first is the problem of unmeasured (and immeasurable) variables. The second is the problem that even the most extensive models do not capture the complexity that can be demonstrated in real systems. I illustrate some of these problems, and some qualitative tests of the models, with experimental work on a population of the collared flycatcher. My conclusion is that although there are some cases where the models have qualitative support, we are a long way from understanding whether paternal care is commonly adjusted in relation to certainty of paternity.

Animals↗
PubMed1983

Paternity exclusion and the paternity index for two linked loci.

Algebraic expressions for the average exclusion frequency and the paternity index are derived for two linked loci, each with two alleles segregating in a population. The effects of recombination and gametic disequilibrium on these two statistics are discussed. As long as recombination is known to exist, the average exclusion frequency is similar for different recombination fractions. The paternity index, on the other hand, depends very much on both the recombination fraction and gametic disequilibrium. The effects of multiple alleles and dominance on these statistics are also briefly discussed.

Adult↗