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PubMed1976

[Medicopsychosocial syndrome of polygonosomies (XXX, XXY, XYY, syndromes etc...)].

This is an attempt to describe a common syndrom of polygonosomy. Medical, psychological and social incidences of XXX, XXY, XYY, genotypes indicate that these chromosomal aberrations share identical features: phenotypic abnormalities (high stature, dermatoglyphes abnormalities), neuropsychic troubles (neurological symptoms and mental fragility) and antisocial tendancy. One can suppose that at least some polygonosomic persons have a minimal brain dysfunction (or damage), which causes more vulnerability to environnement, deprivation and stress. Relational, educational and socio-economical factors appear now to have a marked role in the etiopathogenesis of these psychiatric troubles. Some forensic and ethical problems of human genetic research are reviewed, such as the so-called "criminal chromosome", supplementary Y chromosome, a myth based upon false and premature scientific assertions.

Antisocial Personality Disorder↗
PubMed2000

5' Nuclease assays for the loci CCR5-+/Delta32, CCR2-V64I, and SDF1-G801A related to pathogenesis of AIDS.

BACKGROUND: Variations within the human genome play important roles in human disease. To study variations related to susceptibility to AIDS, we have developed 5' nuclease assays that eliminate post-PCR molecular biology steps. METHODS: TaqMan assays based on the 5' nuclease activity of Taq polymerase and fluorescent resonance energy transfer were developed to score alleles at the biallelic loci CCR5-+/Delta32, CCR2-V64I and SDF1-G801A. For each assay, 72 samples were analyzed. Data collection and analysis were performed on the Prism 7700 Sequence Detection System. For comparison with gel electrophoresis methods, each locus was also scored on a subset of 24 samples, using restriction enzymes or single-strand conformational polymorphism (SSCP). RESULTS: Clear allelic discrimination was obtained on each of the 72 samples for all three TaqMan assays. The TaqMan scores for the subset of 24 samples were concordant with the restriction enzyme and SSCP scores. CONCLUSIONS: Because of its simplicity, speed, and potential for automation and miniaturization, TaqMan is an excellent candidate for investigation of genetic variation in clinical, research, and forensic settings.

Acquired Immunodeficiency Syndrome↗
PubMed1997

[Transferrin subtyping of human semen, semen stain, vaginal fluid and mixed stain using isoelectric focusing and immunoblotting].

Transferrin (Tf) is an important genetic marker for personal identification in forensic science. We examined the subtypes in human semen, semen stain, vaginal fluid and mixed stain using isoelectric focusing and immunoblotting method(IEFIB). The results showed that, Tf subtypes of 8 semen and semen stain samples stored at room temperature for up to 32 weeks were the same as those in sera. Tf subtypes of 17 vaginal fluid and 4 mixed stain containing few semen were not detected. Tf Subtyping of 1 mixed stain containing enough semen was successful by using IEFIB. These results indicate that Tf is stable in semen stain. The Tf subtyping in semen stain and mixed stain containing enough semen can be carried out by using IEFIB method.

Exudates and Transudates↗
PubMed1995

French Caucasian population data for HUMTH01 and HUMFES/FPS short tandem repeat (STR) systems.

The recent technology of amplification of DNA sequences by the polymerase chain reaction (PCR) has already proved to be a very useful tool for the analysis of variable number of tandem repeat (VNTR) loci. Short tandem repeat (STR) loci appear as other promising PCR-based identification systems. In fact, DNA typing based on PCR amplification of STRs is very sensitive and allows to overcome major problems encountered when using the RFLP method, such as typing of very small amounts of DNA, highly degraded DNA or mixtures of DNA from more than one individual. Two STR systems, HUMTH01 (a tetranucleotide repeat (AATG) sequence located on chromosome 11) and HUMFES/FPS (a tetranucleotide repeat (ATTT) sequence located on chromosome 15) were investigated in order to determine allele and genotype frequencies for a French caucasian population sample. HUMTH01 and HUMFES/FPS alleles were amplified by the use of PCR and amplified STR sequences were analyzed on 6% Hydrolink Long Ranger gels and visualized by silver staining. The study was conducted on a sample of unrelated individuals (N approximately 190) randomly selected from the French caucasian population. The genotype distributions met Hardy-Weinberg expectations for both HUMTH01 and HUMFES/FPS STR systems. Furthermore, an additional allele, never reported before was observed at the HUMFES/FPS locus: it migrates as an allele containing 7 repeat units and corresponds to the smallest allele identified for this locus.

Alleles↗
PubMed1996

[Long and accurate PCR (LA PCR)].

PCR (Polymerase Chain Reaction) has become a standard and essential tool used in disciplines such as molecular genetics, genome mapping and sequencing, and forensics. It has proven to be easier, quicker, and less costly than traditional techniques of molecular cloning. While its use in these fielde has already contributed to great advancements and revolutionary changes, current PCR using Taq DNA polymerase is usually limited to amplification up to 5kb. Recently, "long" PCR conditions have been identified which allow the amplification of DNA templates up to 40kb with higher fidelity. In this report, we describe the amplification of longer human genomic fragments (up to 27kb) using LA PCR technology.

Cloning, Molecular↗
PubMed1997

A pentaplex automated fluorescent typing system for forensic identification and French Caucasian population data.

The polymerase chain reaction (PCR) amplification of short tandem repeat (STR) loci has already proven to be a method of choice for large scale typing of DNA samples in which the conventional restriction fragment length polymorphism (RFLP) technique is ineffective. A quadruplex PCR including HUMvWFA31A, HUMF13A01, HUMTH01, and HUMFESFPS STR loci is used successfully for routine forensic applications in our laboratory. However, the need to increase the discrimination power of the PCR systems used prompted us to develop a second system of a pentaplex PCR for the analysis of 4 additional STR loci (HUMD8S1179, HUMD18S51, HUMD21S11, and HUMFIBRA) and the sex determination by amplification of a segment of the X-Y homologous Amelogenin gene. Allele and phenotype frequencies for these 4 STR systems were obtained by multiplex amplification, from approximately 200 randomly selected and unrelated French Caucasian individuals. Statistical calculations for these phenotype distributions met expectations for Hardy-Weinberg equilibrium. Furthermore, the French allelic frequencies of D18S51, D21S11, and HUMFIBRA loci were compared with the data obtained by the Forensic Science Service (UK) for the British Caucasian population and proved to be similar.

Alleles↗
PubMed1984

Review of isoelectric focusing for Gc, PGM1, Tf, and Pi subtypes: population distributions.

Isoelectric focusing (IEF) as a method for differentiating macromolecules with minor differences in isoelectric points has demonstrated an increase in the degree of genetic polymorphisms of the blood. Studies over the last 5 to 6 years have shown that genetic marker systems such as transferrin (TF), phosphoglucomutase (PGM1), the vitamin D-binding globulin (GC), and A1 antitrypsin (PI) are a great deal more polymorphic than observed using conventional electrophoresis. Additional genetic variants have been detected or further defined in such systems as esterase D (ESD) and hemoglobin (HB) to name a few. The increased heterozygosity levels of these genetic marker systems identified by IEF have added to their value in forensic medicine and resulted in further resolution of racial and population affinities. IEF should prove to be a valuable anthropological tool for measuring population structure and genetic distances.

Adult↗
PubMed2005

Patterns of genetic polymorphism at the 10 X-chromosome STR loci in Mongol population.

Genetic diversity at 10 X-chromosome STR loci has been approved and widely used for forensic science field. In this paper, we have studied this genetic diversity in various Mongol ethnic group with geographic backgrounds. Allele frequencies of 10 X-chromosome STR loci, including DXS7133, DXS6799, DXS8378, DXS7423, DXS6804, HPRTB, DXS7424, DXS7132, DXS6789 and DXS101, were obtained from healthy unrelated individuals (53 females and 47 males) of Mongol ethnic group lived in north China. Gene diversity analysis showed that the average heterozygosity was uniformly high (0.687) in the studied population. The coefficient of PIC was 0.99998.

China↗
PubMed1997

VNTR polymorphism in the Buenos Aires, Argentina, metropolitan population.

VNTR loci provide a wealth of information for human genetic research, ranging from gene mapping to paternity testing and forensic identification. In this study we report the construction, validation, and analysis of the first local genetic database for VNTR markers for Argentina. A sample of the metropolitan population of Buenos Aires was typed by means of six VNTR systems. Allele frequencies and expected heterozygosity were calculated. The sample set was further tested for departures from Hardy-Weinberg equilibrium and power of exclusion. Allele frequency distributions are compatible with previously reported data on Caucasian populations, and no departures from Hardy-Weinberg equilibrium were detected.

Argentina↗
PubMedDate not supplied

[The use of the teeth in genetic fingerprinting].

Blood, hairs and sperm are tissues currently used in forensic science to carry out DNA fingerprints in the field of individual identification. Our study aims at showing that dental pulp can also be an exploitable DNA source. A quantitative and qualitative DNA investigation on a yield gel with sizing extracted from this tissue shows that the molecule appears to be in a great quantity and of a high molecular weight. The last characteristic allows the use of the restriction fragments length polymorphic technique to make DNA fingerprints, based on the individual variations of the restriction sites disposition, within the DNA molecule, for a given enzyme. Thus, for an enzyme, the length of the restriction fragments obtained and revealed by a probe, is visualized by autoradiograph. According to this technique, we compared the DNA fingerprints obtained on 8 persons with the probe MS43A, from both pulpal and nucleated blood cells. During the extraction of the third molar of each sample, a small quantity of blood was taken in the tooth socket. In the same time DNA was recovered. For a same person, the autoradiograph showed the same pattern for both blood and tooth sample. The DNA profile similitude confirms the possibility of using the tooth for genetic analysis. The interest in using dental tissues as a DNA source of individual identification falls within the particular character of resistance of this organ towards physical or chemical exterior aggressions. The tooth which until now was used in Anthropology and Forensic Science for its morphological aspects could be used this way for genetic study.

Autoradiography↗
PubMed2003

Post-mortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood.

Tramadol is an opioid drug metabolised in phase I by cytochrome P450 (CYP) enzymes, of which CYP2D6 is mainly responsible for the O-demethylation of tramadol, but is not involved in N-demethylation. Defects in the genes encoding drug metabolising enzymes (DMEs) may lead to adverse drug effects, even to death. To aid interpretation of the forensic toxicology results, we studied how the genetic variation of the CYP2D6 gene is reflected in tramadol metabolite ratios found in post-mortem samples. In 33 Finnish autopsy cases where tramadol was found, we analysed both the CYP2D6 genotype and the concentrations of tramadol and its metabolites O- and N-demethyltramadol. As expected, we found a correlation between the number of functional CYP2D6 alleles and the ratio of tramadol to O-demethyltramadol. We also found a correlation between the number of functional alleles and the ratio of tramadol to N-demethyltramadol. This can be explained by the complementary nature of the two main tramadol demethylation pathways. No known CYP2D6 inhibitors were associated with exceptional metabolic ratios. Furthermore, no accidental tramadol poisonings were associated with a defective CYP2D6 gene. Our results on the tramadol are among the first to demonstrate that genetic variation in drug metabolising enzymes can be analysed in post-mortem blood, and that it correlates well with the parent drug to metabolite ratios. The results also suggest that genetic factors play, in general, a dominant role over other factors in the metabolism of individual drugs.

Adult↗
PubMed2005

Developing a SNP panel for forensic identification of individuals.

Single nucleotide polymorphisms (SNPs) are likely in the near future to have a fundamental role in forensics in both human identification and description. However, considerable research is necessary to establish adequate scientific foundations for these applications. In the case of identification, because allele frequencies can vary greatly among populations, the population genetics of match probabilities is a critical issue. Some SNPs, however, show little allele frequency variation among populations while remaining highly informative. We describe here both an efficient strategy for identifying and characterizing such SNPs, and test that strategy on a broad representation of world populations. Markers with high heterozygosity and little frequency variation among African American, European American, and East Asian populations are selected for additional screening on seven populations that provide a sampling of genetic variation from the world's major geographical regions. Those with little allele frequency variation on the seven populations are then screened on a total of 40 populations ( approximately 2100 individuals) and the most promising retained. The preliminary panel of 19 SNPs, from an initial selection of 195 SNPs, gives an average match probability of <10(-7) in most of 40 populations studied and no greater than 10(-6) in the most isolated, inbred populations. Expansion of this panel to approximately 50 comparable SNPs should give match probabilities of about 10(-15) with a small global range.

DNA Fingerprinting↗
PubMed2004

Effects of processing techniques on the forensic DNA analysis of human skeletal remains.

Human remains processed by forensic anthropologists may potentially be used for genetic analysis. Therefore, the condition of the deoxyribonucleic acid (DNA) in processed remains may become an issue for future analysis. Processing techniques employed by anthropologists are highly variable and scanning electron microscopy reveals significant alterations to the bone surface depending upon the technique used. Such damage to the bone indicates differences may exist in quality and quantity of DNA extracted. This study assessed how five processing procedures used by major forensic anthropology laboratories around the country affects the amounts of DNA extracted from human rib bones and the subsequent DNA analysis. The DNA was analyzed using the short tandem repeat (STR) locus CSF1PO and amelogenin. The findings indicate processing procedures used by forensic anthropologists do not adversely affect DNA analysis but prolonged exposure to heat during processing may decrease the yield of information from the DNA.

DNA↗