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PubMed1990

[Use of DNA polymorphism in forensic paternity evaluation].

Problematical paternity cases were additionally subjected to DNA-polymorphism analysis. 5 cases are reported, focusing on problems due to, 'silent' allele transmittance, relatively low probability for paternity, obvious occurrence of the extremely rare Rh gene complex CWc, involvement of brothers as putative fathers, non-paternity of a man although his W-value was 99.975%. The aim of this paper is to demonstrate the need for DNA-polymorphism analysis, if conventional blood group tests do not lead to a clear-cut decision. Extended typing of conventional blood group polymorphisms (except HLA) cannot compete with highly polymorphic DNA loci.

Adult↗
PubMed1990

Use of deoxyribonucleic acid (DNA) fingerprints for identity determination: comparison with traditional paternity testing methods--Part II.

Six red blood cell (RBC) antigen systems, coupled with human lymphocyte antigen (HLA) phenotyping, were used to establish paternity on 28 mother/child/alleged-father trios. Samples were subsequently examined using the deoxyribonucleic acid (DNA) fingerprinting test with the multilocus Jeffreys DNA probes 33.6 and 33.15. In 27 of 28 paternity cases, the DNA fingerprinting test results supported and enhanced the results of RBC and HLA typing by resolving disputed paternity cases conclusively. One discrepancy between conventional serological methods and DNA analysis is discussed.

Blood Grouping and Crossmatching↗
PubMed1990

[Determination of paternity using DNA analysis of chorionic villi].

Using probes recognizing hypervariable regions in human DNA high precision paternity testing can be provided even in the first trimester of pregnancy. Paternity tests were performed in 14 families using DNA isolated from chorionic villi. The results indicate that by a single probe confirmation or exclusion of paternity from a DNA sample of chorionic villi the 1st trimester of pregnancy can be performed with a probability more than 99.99%.

Blotting, Southern↗
PubMed1989

Population genetics of the highly polymorphic locus D16S7 and its use in paternity evaluation.

We have developed a DNA RFLP test to resolve paternity cases in which the accused man is included at a low probability of paternity by conventional testing. The DNA probe p79-2-23 was used to determine the allele frequency distribution for the locus D16S7 in the North American black, Caucasian, and Hispanic racial groups. Approximately 3,500 TaqI-digested DNAs were analyzed from the three populations studied. An apparent continuum of alleles was detected varying in size from 2.9 kb to 8.3 kb. Estimates of the average probability of exclusion were found to be .90 and .79 for the North American black and Caucasian populations, respectively. Gene frequency data for common and rare alleles indicated a potential paternity index ranging from 2 to 450.

Alleles↗
PubMed1989

[Local geographic variability of genic frequency of blood groups used in calculating paternity probability].

The distribution of some genetic polymorphisms, usually utilized in cases of disputed paternity, has been reported for the Marche region of Italy. The genic frequencies found do not show significant variations when compared to mean national values, except for the MNSs system; nevertheless, some differences, such as those between rare alleles in the Rh system, can affect the biostatistical evaluation of paternity. Therefore, in our opinion, the probability of paternity should be calculated using both national and regional frequencies.

Blood Group Antigens↗
PubMed1986

Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity.

The allele frequency distribution of two highly polymorphic DNA sequences has been determined in three ethnic groups (American blacks, Caucasoids, and Hispanics) from the New York metropolitan area. The two loci examined were D14S1 and the flanking region of HRAS-1. The former was analyzed in EcoRI-digested DNA and the latter in TaqI-digested DNA. Approximately 700 DNA samples from unrelated individuals were digested with each of these enzymes and hybridized with the appropriate recombinant DNA probes. The size range of the DNA fragments detected for the D14S1 polymorphism varied from 14.3 to 32.5 kilobase pairs (kbp). The number of alleles identified under the experimental conditions used in this study was more than 40. For the HRAS-1 polymorphism, we have detected 18 different alleles varying in size from 1.85 to 4.5 kbp. Although the number of alleles observed in the different ethnic groups examined was very similar, the relative frequency of them varied significantly. The results presented here can be used as the basis for the utilization of DNA RFLP for the purpose of identity, such as paternity determinations or the analysis of forensic material. As an example, we have compared the results of paternity cases analyzed by HLA typing with those obtained with these two DNA polymorphisms. The values of paternity index and power of exclusion were similar by both procedures.

Alleles↗
PubMed1989

Paternity exclusion using 18 genetic systems in 2124 cases in four South African population groups.

Using 18 different blood group systems, 2,124 cases of doubtful paternity, unevenly distributed among four different population groups--South African Negroes (Xhosas) 645 (30%); South African Caucasians 264 (13%); Cape Coloureds (non-Malay) 1,156 (54%), and Cape Malays 59 (3%)--were analysed. Tests for red cell antigen, plasma protein, red cell enzyme and HLA polymorphisms were done on all subjects. The overall exclusion rate was 38,23%, i.e. 812 of the 2,124 men were not biological fathers of the children ascribed to them. The capability of the individual systems to exclude a man from specific paternity was also evaluated. The polymorphic HLA system was the most useful and alone--depending on the particular population group--excluded between 93.5% and 97.8% of falsely accused men. The proportion of men excluded also varied between different population groups using the different systems, e.g. the Rhesus system alone excluded 43.9% of South African Caucasian non-fathers and only 14% of the Xhosa non-fathers. This is a reflection of the gene frequencies within a particular population. The analysis showed that the genetic systems tested in this laboratory were extremely efficient in providing evidence in proof of non-paternity.

Black People↗
PubMed1986

[Concept of a hemogenetic paternity study using mixed lymphocyte culture (MLC). I. Theoretical considerations].

The chance of paternity exclusion shows 99.99% using 26 hemogenetic marker systems. Furthermore mixed lymphocyte culture-test (MLC) is able to exclude the falsely accused man in certain mother-child pairs. The lymphocyte culture of the child with his father's MLC haplotype can stimulate the maternal lymphocytes. The "primed" mother reacts in a second stimulation with the child's-father cells very strongly and in a short time of cultivation, but gives no reaction, when cultured with "non father" cells, lacking the paternal haplotype. All possible parents-sibling-combinations are noted and samples of positive and negative results in disputed paternity cases are demonstrated on basis of this new conception.

Adult↗
PubMed1986

The use of restriction fragment length polymorphisms in paternity analysis.

This paper examines the utility of restriction fragment length polymorphisms (RFLPs) for paternity analysis. While, on the average, 99% of falsely accused males can be excluded with the standard battery of blood group antigens, red cell enzymes, serum proteins, and HLA antigens, there are still mother-child pairs for whom the exclusion probability is not high. It has been suggested that additional resolution would be available with RFLPs. We have examined the strategic aspects of using RFLPs for paternity analysis, comparing the efficacy and cost of a multimarker haplotypic set with those of a comparable set of unlinked RFLPs, using published frequencies for the beta-globin complex, the serum albumin region, and the growth hormone region. There are four major findings. (1) Greater resolution is obtained with a carefully chosen set of tightly linked RFLPs producing chromosomal haplotypes than with a comparable set (same allele frequencies) of unlinked markers, but only if it is possible to establish linkage phase unambiguously. (2) Assay of linked sets is cheaper than is the assay of unlinked markers, but the cost advantage is optimized with sets of no more than two or three linked markers. (3) Also, with more than two or three tightly linked markers, the haplotypic frequencies are too poorly estimated to provide a reliable measure of the probability of paternity for unexcluded males, given the sample sizes likely to be available in the near future. (4) Optimal resolution, minimal cost, and acceptable accuracy are obtained with several independent sets of no more than two or three tightly linked RFLP markers each. With current technology, RFLP analysis is more expensive for the same level of genetic resolution than is the standard battery, but gradual replacement of the latter can be anticipated as economies of scale reduce the cost of the DNA technology.

Alleles↗
PubMed1988

[Calculation of the proportion of men excluded from paternity by HLA typing of the mother and child].

When filiation research shows that paternity is possible, French legislation recommends the calculation of two coefficients: 1. paternity probability (CP); 2. percentage of random men excluded from paternity by genetic markers of the mother and the child (PEme). A method is proposed, allowing the determination of PEme for the HLA system and PEme for the various systems employed. The calculations, relatively simple, can be worked out quickly and without risk of error, using a computer. We successively look at simple cases, complex cases and unusual cases: maternal death, consanguinity problems, racial problems. HLA-A, B, C, DR, DQ typing almost always leads to the exclusion of more than 98% of innocent men (PEme greater than 0.98). The HLA system clearly appears to be the most conclusive of the systems utilized by experts.

Chromosomes, Human, Pair 6↗
PubMed1986

Probability and paternity testing.

A probability can be viewed as an estimate of a variable that is sometimes 1 and sometimes 0. To have validity, the probability must equal the expected value of that variable. To have utility, the average squared deviation of the probability from the value of that variable should be small. It is shown that probabilities of paternity calculated by the use of Bayes' theorem under appropriate assumptions are valid, but they can vary in utility. In particular, a recently proposed probability of paternity has less utility than the usual one based on the paternity index. Using an arbitrary prior probability in the calculation cannot lead to a valid probability unless, by chance, the chosen prior probability happens to be appropriate. Appropriate assumptions regarding both the prior probability and gene or genotypic frequencies can be estimated from prior experience.

Female↗
PubMed1986

Human chromosome variation: the discriminatory power of Q-band heteromorphism (variant) analysis in distinguishing between individuals, with specific application to cases of questionable paternity.

The chromosomes from 57 persons were analyzed by means of quinacrine fluorescent staining in order to assess the amount of variation and the discriminatory power of Q-band heteromorphism analysis. Chromosomes 3, 4, 13, 14, 15, 21, 22, and Y of each person were visually compared to those of 56 others, for a total of 1,596 comparisons. No two persons were found to have the same set of variants. The number of differences between chromosomes for each comparison ranged from 2 to 12 out of a possible total of 14 for females and 15 for males. Relatives were also distinguishable, and differences ranged from two to seven. We used the frequency with which each chromosome was useful for telling two people apart, and estimated the probability of finding two persons with the same set of quinacrine variants as .0003. Distinctly different heteromorphisms were found in the 39 unrelated persons for each of the chromosomes examined. In this small population, the number of different sets of variants observed for chromosomes 3, 4, 13, 14, 15, 21, 22, and Y were six, seven, 27, 16, 20, 15, 24, and five, respectively, for a total number of possible combinations of 1.14 X 10(15). As a test of the usefulness of chromosome heteromorphisms in paternity cases, 12 father-mother-child trios of virtually certain paternity, owing to the father-child segregation of a rare structural rearrangement, were coded and recombined at random to produce 120 cases of uncertain paternity. When the code was broken, 108 "alleged fathers" had been excluded correctly and the 12 biological fathers had been included correctly.

Chromosome Banding↗
PubMed1984

[Possible cytogenetic mechanisms of direct paternal influence on the human twinning tendency and their consequences: a hypothesis].

Certain cytogenetic mechanisms are suggested to explain the puzzling cases of the direct male influence on the repeated twin births in mammals including humans. The hypothesis is based on the peculiarities of female oogenesis and meiosis, the peculiarities of fertilization and on the established facts of the occurrence of true viable chimaeras produced by separate fertilization of two meiotic products of oogenesis. We postulate that definite genetic factors are transferred from the paternal side whose products become active in male gametes and promote penetration of two spermatozoa (polyspermy) or appearance of two male pronuclei in the egg cytoplasm. The results of such events may be twinning and occurrence of chimaeric or heteroploid individuals. The appearance of viable twins produced by male-dependent polyspermy may be considered as a fortunate outcome of various possible cytogenetic anomalies of fertilization, meiosis, and cleavage divisions. The existence of non-canonical cases of twins, except mono-and dizygotic ones is postulated, according to the hypothesis. Twins pairs produced by two paternal and one maternal genomes may be called "one and halfzygotic or sesquizygotic". The different types of twins may be classified in an order, according to the degree of genetic similarity; monozygotic, chimaeric, sesquizygotic chimaeric, sesquizygotic and dizygotic. This gives an opportunity to explain the appearance of 2 to 3% of "doubtful cases" in mass classification of twin pairs into mono- and dizygotic. The verification of the hypothesis involves the special thorough genetic and cytogenetic analysis of all twin sibs and their parents in families with the direct paternal influence on twin births.(ABSTRACT TRUNCATED AT 250 WORDS)

Cell Nucleus↗
PubMed1980

Expected and observed proportion of subjects excluded from paternity by blood phenotypes of a child and its mother in a sample of 171 families.

The proportion of exclusion for a given mother-child pair is the proportion of males excluded from the paternity of this child of a known mother and may be calculated given both the child's and mother's phenotypes and the population gene frequencies. Its expected value in the population is equal to the probability of exclusion, which expresses a laboratory's capability to exclude from paternity nonbiological fathers.In a sample of 171 families examined for 20 genetic systems at the National Blood Group Reference Laboratory, 25 exclusions of putative fathers were detected. The ranking by efficiency of the systems used in these exclusions fits the "expectation of their efficiency," and the average proportion of males excluded by the child's and mother's phenotypes is not different from the expected proportion. Additionally, the repetition of exclusions in an incompatible putative father-mother-child trio is not dependent on the overall proportion of males excluded by the mother and the child, but rather on some high values of the proportion of excluded men in some specific systems.Here, formulas and some factors modifying these parameters as well as a more efficient sequence of examinations to exclude paternity than has previously been used are given. Using this sequence, laboratories which carry out several analyses per day can work by levels of five examinations at a time, done in a particular order, to obtain a rather rapid exclusion of certain families.

Adult↗
PubMed1981

[Formalisation parental genotype recognition for the computation of probability of paternity (author's transl)].

Advances in biological identification of an individual based on blood markers polymorphism make available the attribution of paternity of a given child to an alleged father. Using Bayes' formula on these data requires previous calculation of conditional probabilities of the child's phenotype under either hypothesis of true paternity and non-paternity of the man. However, exact formulation of those is obtained only by introducing into the both parents-child link. The necessity of the successive use of Bayes' formula in each step for exact calculation of parental genotype weights is proved. The resulting process allows computer identification of possible genotypes and exact computer processing.

Bayes Theorem↗
PubMed1980

[Haptoglobin subtypes in paternity cases].

A brief review of theoretical and practical problems of the identification of haptoglobins (Hp) is given. Examination of Hp-subtypes was carried out in 335 cases of discussed paternity using polyacrylamide gel electrophoresis. According to the results of the examination of the sera of 285 adults (included into the above mentioned group) the gen frequency appeared to be as follows: when the frequency of the gen Hp1 = 0.346, the value of the frequency of Hp1F = 0.115 and Hp1S = 0.231. Thus the maximal (theoretical) chance of the exclusion of the paternity have been found 26.24%. Two cases are reported. In one of them determination of the Hp-subtypes resulted in exclusion of the discussed paternity.

Female↗
PubMedDate not supplied

Prenatal identification of paternity. HLA typing helpful after rape.

The HLA antigens system is extremely polymorphic, and HLA typing is now widely used for both the exclusion and the positive assignment of paternity. We have also used HLA typing for identification of paternity of fetal cells in a pregnancy detected a few weeks after the rape of a woman. The HLA typing indicated that the father of the fetus was the woman's husband, with a probability of 25:1 (96%), before the time the rapist could also be tested. Subsequently, the accused rapist was excluded as a potential father because he lacked all of the paternal antigens detected in the fetus. This prediction was confirmed after delivery.

Adult↗
PubMedDate not supplied

Disputed paternity: experience in Ile-Ife, Nigeria.

Results of paternity tests carried out in our hospital between September, 1984 and December, 1993 were analysed. There were 44 cases consisting of 37 (84.1%) groups of four each: the child, the mother and the two alleged fathers, and 7 (15.9%) groups of three, including the disputed child, the mother and the alleged father. Most of the disputed victims were children under age 10 years (97.7%), the oldest 'child' in dispute was 35 years. The total cumulative paternal exclusion rate with our standard techniques was only 27.5% consisting of 15.9% for ABO blood group system, 2.3% for Rhesus-D system and 9.3% for haemoglobin electrophoresis analysis. This is far below the exclusion rate of up to 97% and 99.9% obtained with the more reliable tests such as HLA and DNA analyses, respectively. There is a need to introduce a more reliable screening package for paternity testing in our specialised hospitals in order to ease the associated medicolegal problems since all the cases but one seen were referred from law courts.

ABO Blood-Group System↗