ABSTRACT
The article presents a comparative analysis of reference nucleotide sequences for locus D1S111, estimation of basic parameters of this locus polymorphism in the representative sample of Russian population for use as an individual identification molecular-genetic system in forensic expert examinations.
Subject(s)
DNA Fingerprinting/methods , DNA/analysis , Forensic Medicine/methods , Genetics, Population , Minisatellite Repeats/genetics , Polymorphism, Genetic , Alleles , Genotype , Humans , RussiaABSTRACT
Investigated within the case study are parameters of disbalance of lineage (HC) for 4 micro-satellite locuses of human genome: LPL, CD4, vWA and vWFII. The above locuses are widely used, both in Russia and abroad, in molecular-genetic applications for personality identification. Meanwhile, according to cytogenetics criteria, CD4, vWA and vWFII, are located close to each other in the telomeric region 12pter-12p12 in the short chromosome 12 arm, therefore their potential genetic interdependence is still a topical issue. We found a reliable HC between locuses vWA and vWFII. Locus CD4 did not display HC with locuses vWA and vWFII or with locus LPL. The latter, which is located in chromosome 8 and which must have been negative control for HC, was shown to have no HC with any of the studied markers. Such results correlate well with data on the relative physical localization of CD4, vWA, vWFII and LPL. Multiplication of frequency of alleles (genotypes) is not acceptable in typing locuses vWA and vWFII within one multi-locus panel due to the genetic linkage of these markers demonstrated within the present case study, which is an important practical conclusion.
Subject(s)
Chromosomes, Human/genetics , DNA/analysis , Forensic Medicine , Genetic Linkage , Microsatellite Repeats/genetics , Polymorphism, Genetic , Alleles , Base Sequence , Chromosome Mapping , Genetics, Population , Humans , Molecular Sequence Data , Polymerase Chain Reaction , RussiaABSTRACT
While analyzing the available published data, we found significant differences in definition of alleles of the HUMCD4 polymorphic chromosome locus. It is an obstacle for comparing the expertise results obtained while using the locus as molecular individualization system in different laboratories and, as a consequence, it hinders the use of the said marker in building up a reference database. The structure of the HUMCD4 locus was analytically investigated and the distribution of the locus alleles was systemized in a sample of 407 persons (citizens of Russia who are not blood relatives) within the present case study for the purpose of a detailed definition of its allele's characteristics. We worked out recommendations related with the nomenclature standardization of alleles of the HIMCD4 locus and specified the main population features of the locus polymorphism on the bases of the studied sample of Russia's citizens. The results can be used as reference parameters in interpreting the findings of the molecular-genetic identification expertise and examinations and in building up databases.
Subject(s)
Alleles , Forensic Medicine , Polymorphism, Genetic , Tandem Repeat Sequences/genetics , Terminology as Topic , Base Sequence , Gene Frequency , Genetic Markers/genetics , Genetics, Population , Humans , Molecular Sequence Data , RussiaABSTRACT
Molecular genetic technologies used in forensic medical expert evaluations help quantitatively evaluate the significance of coincidence or non-coincidence of signs in personality identification and in expert evaluation of kinship identification (disputable paternity or maternity). The level of validity of evidences, which can be considered necessary and sufficient, is the principal problem in such cases. Analyzing a complex case with disputable maternity, the authors discuss problems illustrating the necessity of attaining a high level of validity of the results for drawing a justified expert conclusion. Only high validity standard can rule out errors in interpretation of the results, otherwise the significance of the detected complex of signs can be insufficient for an unambiguous solution of an expert task.
Subject(s)
Forensic Medicine , Molecular Biology , Electrophoresis, Polyacrylamide Gel , Female , Genetic Markers , Genotype , Humans , Polymerase Chain Reaction , PregnancyABSTRACT
Amplification systems based on highly polymorphic tetranucleotide microsatellites from the family of von Willebrand factor gene (vWF) and locus D6S366 repeats are developed at the State Research Center Gos-NII Genetika. A complex expert evaluation of two such molecular genetic individualizing systems based on loci HUMvWFII and D6S366 is performed in order to investigate their probable use in forensic medical personality identification.
Subject(s)
Forensic Medicine , Microsatellite Repeats/genetics , Repetitive Sequences, Nucleic Acid/genetics , von Willebrand Factor/genetics , Alleles , Blood Stains , Bone and Bones , DNA/genetics , DNA/isolation & purification , Female , Hair , Humans , Male , Nucleic Acid Amplification Techniques , Saliva , SpermatozoaABSTRACT
In population samples of Moscow and Tomsk, allelic polymorphism of microsatellite loci HUMCYAR04 and D19S253 was studied by polymerase chain reaction. Seven HUMCYAR04 alleles (181-205 bp) and nine alleles (208-240 bp) of the D19S253 locus were identified. In both population samples, the absence of statistically significant differences in the distribution of allele frequencies for these loci was demonstrated. The distribution of the observed genotype frequencies was shown to correspond to the Hardy-Weinberg equilibrium in both populations. Mendelian inheritance of these tandem repeats was demonstrated by an analysis of two large families. The parameters of polymorphism information content for the loci studied were determined; comparative analysis of allele frequencies with corresponding data for a number of populations was performed. These short tandem repeats were proposed for use in personal identification and paternity tests.
