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PubMedDate not supplied

Commerce and genetic diagnostics.

The revolution in molecular biology and molecular genetics has begun to reveal the sequence of events that links genes and disease. As a result of activities such as the Human Genome Project, a parallel revolution in technology is bringing nearer to hand the possibility of readily available genetic diagnostics. Genetic testing services have begun to move out of the academic medical centers and into the private enterprise arena. Under these circumstances it is important to understand the factors affecting the availability and application of this powerful predictive tool in a for-profit mode. How does the marketplace encourage or discourage genetic testing? Will the same market influences that generate pharmaceutical sales be operating to "sell" genetic tests?

Abortion, Eugenic↗
PubMed2001

A method for distinguishing consanguinity and population substructure using multilocus genotype data.

We use the patterns of homozygosity at multiple loci to distinguish between excess homozygosity caused by consanguineous mating and that due to undetected population subdivision (the Wahlund effect). Clarification of the underlying causes of excess homozygosity is of practical importance in explaining the occurrence of recessive genetic disorders and in forensic match probability calculations. We calculated a likelihood surface for two parameters: C, the proportion of the population practicing consanguinity, and theta, the genetic correlation due population subdivision. To illustrate the method, we applied it to multilocus genotypic data of two U.K. Asian populations, one practicing a high frequency of cousin marriage, and another in which caste endogamy was suspected. The method was able to successfully distinguish the different patterns of relatedness. The method also returned accurate estimates of C and theta using simulated data sets. We show how our method can be extended to allow for degrees of inbreeding closer than cousin unions, including selfing. With closer inbreeding, the relatedness of recent ancestors beyond the parents becomes an issue.

Algorithms↗
PubMed2003

Variation at 16 STR loci in Rwandans (Hutu) and implications on profile frequency estimation in Bantu-speakers.

A data set of 16 autosomal STRs (the 13 CODIS loci plus HumCD4, HumFES, HumF13A1) was obtained in a sample of 52 unrelated Hutus from Rwanda. Genotypes at all loci met Hardy-Weinberg expectations with the exception of HumCSF1PO. No significant evidence of association across alleles at independent loci was obtained. Statistical parameters demonstrated the forensic usefulness of the analysed systems (combined PE=0.9999996, combined PD=1:2.27 x 10(18)). Pairwise comparisons showed that the Hutu gene pool differs substantially from that of other Bantu-speaking populations suggesting the use of ethnic-specific population databases in forensic casework analysis. The introduction of a non-negligible bias was confirmed by calculating the differences between multiple-locus profile frequencies of western and eastern Bantoids using local and non-local reference databases.

Alleles↗
PubMed2000

Genetic variability at nine STR loci in the Chueta (Majorcan Jews) and the Balearic populations investigated by a single multiplex reaction.

A study of the genetic variability in the Chueta (Majorcan Jews) and the Balearic (Majorca and Minorca Islands) populations was carried out using a multiplex system containing the nine tetrameric STRs D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820. The Chueta population has remained isolated because intermarriage with non-Jews did not take place until the middle of this century, which has resulted in it being a small inbred community. The results indicate the existence of HW equilibrium for the Chueta and Balearic populations. No pair-wise correlation was observed between the nine markers. Consequently, they seem to comprise a suitable group of markers for population genetics purposes and for paternity and forensic testing.

DNA↗
PubMed2002

Characterization of new Schistosoma mansoni microsatellite loci in sequences obtained from public DNA databases and microsatellite enriched genomic libraries.

In the last decade microsatellites have become one of the most useful genetic markers used in a large number of organisms due to their abundance and high level of polymorphism. Microsatellites have been used for individual identification, paternity tests, forensic studies and population genetics. Data on microsatellite abundance comes preferentially from microsatellite enriched libraries and DNA sequence databases. We have conducted a search in GenBank of more than 16,000 Schistosoma mansoni ESTs and 42,000 BAC sequences. In addition, we obtained 300 sequences from CA and AT microsatellite enriched genomic libraries. The sequences were searched for simple repeats using the RepeatMasker software. Of 16,022 ESTs, we detected 481 (3%) sequences that contained 622 microsatellites (434 perfect, 164 imperfect and 24 compounds). Of the 481 ESTs, 194 were grouped in 63 clusters containing 2 to 15 ESTs per cluster. Polymorphisms were observed in 16 clusters. The 287 remaining ESTs were orphan sequences. Of the 42,017 BAC end sequences, 1,598 (3.8%) contained microsatellites (2,335 perfect, 287 imperfect and 79 compounds). The 1,598 BAC end sequences 80 were grouped into 17 clusters containing 3 to 17 BAC end sequences per cluster. Microsatellites were present in 67 out of 300 sequences from microsatellite enriched libraries (55 perfect, 38 imperfect and 15 compounds). From all of the observed loci 55 were selected for having the longest perfect repeats and flanking regions that allowed the design of primers for PCR amplification. Additionally we describe two new polymorphic microsatellite loci.

Animals↗
PubMed1996

Genetics, antisocial personality, and criminal responsibility.

There is now substantial evidence that heritable biological factors play a role in the genesis of repetitive antisocial behavior. The differing conceptual frameworks of behavioral genetics and the law are described, and the implications that current research in behavioral genetics may have for assigning responsibility for unlawful behavior are discussed.

Antisocial Personality Disorder↗
PubMed1996

Population genetics of STR loci in Caucasians.

STR loci are becoming increasingly important in forensic casework. In order to be used fairly and efficiently, the population genetics of these loci must be investigated and the implications for forensic inference assessed. A key population genetics parameter is the "coancestry coefficient", or FST, which is the correlation between two genes sampled from distinct individuals within a subpopulation. We present analyses of STR data, at geographic scales which range from national to regional, from the UK and other European sources. We implement a likelihood-based method of estimating FST, which has important advantages over alternative methods: it allows a range of plausible values to be assessed, rather than presenting a single point estimate, and it allows a subpopulation to be compared with a larger population from which a database has been drawn, which is the relevant comparison in forensic work. Our results suggest that values of FST appropriate to forensic applications in Europe are too large to be ignored. With appropriate allowance, however, it is possible to make use of STR evidence in a way which is efficient yet avoids overstatement of evidential strength.

Cross-Cultural Comparison↗
PubMed2005

Genetic polymorphisms of four STR loci on chromosome X and their forensic applications in a Chinese Han population.

OBJECTIVE: To add DXS7133, GATA198A10, DXS9896 and DXS6797 to the panel of forensically validated X chromosome markers, and apply the multiplex amplification system to a population study and forensic analysis on the Hans of Chengdu. METHODS: The PCR products were detected by the polyacrylamide gel electrophoresis and silver staining method. Hardy-Weinberg equilibrium of females was tested and every forensically interested value was calculated. RESULTS: Sequencing revealed that their common sequence motifs were tetranucleotide repeats. Population genetic data were obtained by analyzing 120 unrelated females and 100 males from Chengdu Han ethnic group. In this population, DXS7133, GATA198A10, DXS9896 and DXS6797 exhibited 6, 6, 11, 8 distinguishable alleles respectively. Chi-square test demonstrated that genotype frequencies in females did not depart from Hardy-Weinberg equilibrium. Power of discrimination for female samples for the four loci were 0.7962, 0.8021, 0.9675, and 0.9444. The parentage testing in 32 cases revealed a typical X-linked inheritance and no mutations. CONCLUSION: DXS7133, GATA198A10, DXS9896 and DXS6797, which are highly polymorphic in Chengdu Han population, are appropriate for individual identification and paternity testing involving a female child.

Asian People↗
PubMedDate not supplied

[Allele polymorphism of molecular-genetic individualizing systems based on tetranucleotide tandem repeats LPL, vWA and TH01 among the population of Russia].

Until recently, data bases on incidence rates of alleles STR (LPL, vWA and THO1 loci) have not been introduced in Russia. To obtain information on the above rates in Russia, a large scale research of distribution of LPL, vWA and Tho1 loci has been performed among a sample of 442 blood-unrelated persons from 57 regions of the Russian Federation to specify basic assessment characteristics of these loci and to raise efficiency of expert use of identifying systems on their base. Relevant parameters (allele frequencies) are presented for each polymorphic locus as well as basic population characteristics of polymorphism in the studied sample of RF population. These results can be used as key parameters for standard probability estimations in assessing the results of molecular-genetic identification.

Alleles↗
PubMed1998

Genes, free will, and criminal responsibility.

Advances in human genetics have raised the possibility that genetic mechanisms can explain various aspects of human behavior. It has been suggested that such genetic explanations would tend to diminish responsibility for one's actions. In this paper I argue that the genetic approach adds little to our understanding of free will, determinism, and responsibility. Even though human beings are material systems obeying the laws of the physical and biological sciences, their behavior may still be unpredictable and essentially undetermined. Moreover, with few exceptions, behavior influenced by genes is no more deterministic than is behavior influenced by the environment. An analysis of the genetic and environmental influences and the complex interactions between them reveals a certain symmetry between genetic and environmental explanations of behavior. Consequently, any argument concerning the relevance of a genetic excuse to a criminal defense will be equally applicable to an environmental excuse.

Causality↗
PubMed1996

[Discovery of genetic polymorphism of human nucleases].

Research into the use of new genetic markers is difficult and costly, but it is necessary for more accurate criminal individualization and paternity testing as well as for analysis of genetic diseases. Recently, we discovered that human ribonuclease (RNase), deoxyribonuclease I (DNase I) and deoxyribonuclease II (DNase II) are characteristic markers showing genetic polymorphism and useful for forensic investigation. DNase I is particularly well suited to practical use, since it shows a well-balanced gene frequency, a high concentration in several body fluids (blood, sweat, urine, breast milk and semen) and tissues (pancreas, liver and kidney), stability against severe conditions (exposure of test samples to high temperature, high humidity and long-term storage), and easy and accurate detectability.

Exoribonucleases↗
PubMed2002

Power of exclusion revisited: probability of excluding relatives of the true father from paternity.

In parentage testing using DNA markers, the formulae for calculating the probability of exclusion generally overstate the power of a test battery by considering its ability to exclude a random man. It is known that in many cases, in particular immigration applications, the false father is more likely to be a relative, e.g. brother, of the true father than an unrelated man. This work presents formulae that take this consideration into account. A practical example using Hong Kong data is provided to illustrate the effect of the modification. Also discussed is how the expected efficacy of a test battery will be affected when possible mutations and null alleles or genetic inconsistencies are taken into consideration.

DNA Fingerprinting↗
PubMed1988

Genetic polymorphism of human C1R subcomponent of the first complement component in the Japanese population.

Genetic polymorphism of the C1R subcomponent of human complement component C1 has been investigated in neuraminidase treated EDTA plasma samples of 440 healthy Japanese individuals living in Tokyo by means of thin-layer polyacrylamide gel isoelectric focusing (PAGIEF) at pH 3.5-9.5 in the presence of 8.0 M urea followed by an electroblotting with enzyme immunoassay. Three common and three rare alleles were detected in the Japanese population. Of these, two common alleles were identical to C1R*1 and C1R*2 and other new alleles were tentatively designated C1R*3, C1R*4, C1R*5 and C1R*6, respectively. The results of the family studies suggested that the genetic model for C1R polymorphism assumed autosomal codominant Mendelian inheritance. The allele frequencies were estimated as C1R*1 = 0.4216, C1R*2 = 0.3602, C1R*3 = 0.2068, C1R*4 = 0.0091 and C1R*R(C1R*5 and C1R*6) = 0.0023, respectively. The distribution of allotypes fitted the Hardy-Weinberg equilibrium. The C1R system provides a useful genetic marker for human genetics, anthropologic studies and forensic science.

Alleles↗