Oligonucleotide fingerprinting using (GTG)5 and (GACA)4 probes for the differentiation of body fragments

For the detection of postmortem stability of DNA and for the identification of parts of dead bodies of unknown origin the oligonucleotide probes (GTG)5 and (GACA)4 can be used. (GTG)5 is a highly discriminating probe which allows to differentiate in the 4 to 25 kilobase range of DNA fragments. DNA fingerprints obtained by (GACA)4 show useful results especially in the short fragment range. The (GACA)4 probe can therefore be used to analyze partially degraded DNA.     

A study of sex identification of trace, dried bloodstains using a Y-chromosome-specific deoxyribonucleic acid (DNA) probe

A new method is discussed which examines trace, dried bloodstains by gel in situ hybridization using a Y-chromosome-specific deoxyribonucleic acid (DNA) probe to determine the sex of the bloodstain for forensic medicine application. The complete DNA is transferred directly by electrophoresis onto the gel intact, bypassing the possibilities of impurities contaminating the sample and of DNA degradation. The method has proven accurate for small (2.5-mm-diameter) samples aged up to eight years and is quick, simple, and easily read.     

中国汉族人群的线粒体DNA控制区多态性研究

探讨mtDNA多态性在法庭科学中个体识别的理论基础。应用PCR扩增产物直接测序方法 ,对 111名中国北方地区汉族人群无血缘关系个体的mtDNA控制区 (HVⅠ和HVⅡ )进行测序分析。在高变区Ⅰ 15 998～ 16 40 0之间发现 10 2处碱基变异 ,10 3个mtDNA单倍型 ;在高变区Ⅱ 0 0 0 35～ 0 0 36 9之间的发现 36处碱基变异 ,6 9个mtDNA单倍型。其可变碱基的变异形式主要为碱基替代 (转换和颠换 )、插入和缺失 ;碱基转换 (78 9% )明显高于颠换(14 3% )、插入 (3 4% ) ,缺失 (3 4% )。分析表明 ,人群个体mtDNA控制区碱基序列 ,基因多样性为 99 9% ,两个无关个体的偶合概率为 0 92 % ,具有高度序列的多态性     

Different informativeness of the three hypervariable mitochondrial DNA regions in the population of Bologna (Italy)

Mitochondrial DNA (mtDNA) sequence variations at hypervariable regions HVI, HVII and HVIII were analysed in 100 unrelated Italians from Bologna. The values of the statistical parameters are in agreement with the range of European populations. We suggest that the less informative HVIII region may be useful to distinguish HVI-HVII identical sequences in forensic analysis especially when nuclear DNA cannot be investigated.     

用dHPLC技术检测线粒体DNA编码区单核苷酸多态性

目的研究线粒体DNA(m tDNA)编码区单核苷酸多态性,建立检测m tDNA编码区单核苷酸多态性(SNP)的变性高效液相色谱(dHPLC)方法。方法设计针对线粒体DNA编码区nt10287-10679及nt8507-8805引物,应用dHPLC技术检测其序列多态性。结果100例中国汉族无关个体中,m tDNA nt10287-10679检出13个SNP位点,13种单倍型,基因多样性(H)为70.79%,偶合概率(P)为29.92%;m tDNA nt8507-8805检出10个SNP位点,12种单倍型,H为70.42%,P为30.28%;两段序列联合起来共检出23个SNP位点,23种单倍型,H为84.14%,P为16.70%。结论所建立的dHPLC方法可用于快速、准确地检测m tDNA编码区序列多态性;m tDNA编码区多态性位点作为m tDNA控制区多态性位点的补充,联合应用可以提高m tDNA的个体识别能力。     

Determination of dopamine and dopamine-derived (R)-/(S)-salsolinol and norsalsolinol in various human brain areas using solid-phase extraction and gas chromatography/mass spectrometry

Using a solid-phase extraction procedure and a gas chromatographic-mass spectrometric (GC/MS) method the levels of dopamine and the levels of dopamine-derived salsolinol (SAL) and norsalsolinol (NorSAL) were determined in human brain areas involved in the etiology of alcoholism, parkinsonism and other diseases. The possibility that biosynthesis of salsolinol occurs through a stereospecific enzymatic reaction was considered. Using a two-step derivatization with N-methyl-N-trimethylsilyltrifluoracetamide (MSTFA) and the chiral reagent (R)-(-)-2-phenylbutyryl chloride, baseline separated peaks of (R)- and (S)-SAL were obtained. Both enantiomers were found in human brain samples with no correlations between levels of salsolinol and dopamine. These findings do not support the hypothesis that only an enantio-selective synthesis of (R)-SAL by a putative salsolinol synthase is responsible for the in vivo formation. In our opinion, non-enzymatic formation of salsolinol via the Pictet-Spengler reaction reveals both salsolinol enantiomers and an additional enzymatic synthesis of only (R)-SAL explains the enantiomer ratio (R)-/(S)-SAL of approximately 2.     

Y-chromosome STR haplotypes in the Canary Islands population (Spain)

Haplotype frequencies of eight Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and DYS385) were determined from a sample of 285 unrelated males from Canary Islands.     

Genetic profile of the Ecuadorian Mestizo population (Ecuador-South America) by using the Power Plex 16 System Kit

Allele frequency data for the 15 STR systems and Amelogenine were determined in a population sample of healthy Mestizo unrelated individuals. All loci met Hardy-Weinberg expectations and the high discrimination power of combined system showed the forensic efficiency of these genetic markers. There is a lack of information on Ecuadorian population from a genetic point of view and therefore no previous publications on the distribution of STRs on Mestizos is available. Mestizos are descendents of Spanish and Amerindian people, however, significant differences were found between the former and the populations from Spanish peninsula, that have been analyzed for these genetic markers.     

STR Data for the AmpFlSTR Identifiler loci in three ethnic groups (Malay, Chinese, Indian) of the Malaysian population

Allele frequencies for the 15 STR loci in the AmpFlSTR Identifiler kit were determined and compared for the three main ethnic groups of the Malaysian population comprising 210 Malays, 219 Chinese and 209 Indians. Blood was placed on FTA paper and DNA was purified in-situ.     

Genomic "dactyloscopy" with the use of bacteriophage M13 as a DNA probe (the expertise of material evidence and personal identification)

In this article the authors give a scientific evaluation of genetic dactyloscopy method in which the sites of human chromosomal DNA, possessing structural polymorphism, act as genetic markers. Technology of genome "dactyloscopy" including both the series of standard conventional methods and new methods is presented. The method is highly sensitive and requires small amounts of material for investigation. A practical case is described when genome "dactyloscopy" gave positive results which led to a conclusion on suspect's involvement in the crime.     

Rare PGM1 (6) and PGM1(7) alleles in the Polish population

Rare PGM1 phenotypes, 6-1, 6-2 and 7-2, were detected in blood samples from 3,437 non-related adults using electrophoresis in starch-gel and cellulose acetate membranes. Frequencies of 0.0009 and 0.0008 were calculated for PGM1(6) and PGM1(7), respectively, for a population from northern Poland. The variants had been inherited, which was confirmed by family studies.     

STR data for the AmpFlSTR Profiler loci from the three main ethnic population groups (Malay, Chinese and Indian) in Malaysia

Allele frequencies for the nine STRs genetic loci included in the AmpFlSTR Profiler kit were obtained from samples of unrelated individuals comprising 139-156 Malays, 149-153 Chinese and 132-135 Indians, residing in Malaysia.     

The polymorphism of plasminogen (PLG) by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy)

The distribution of plasminogen phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n = 1325), the three common phenotypes PLG1, PLG2, PLG2-1 and two further phenotypes PLG1-V and PLG2-V were, observed and the following frequencies calculated: PLG1 = 0.84038; PLG2 = 0.15811; PLGV = 0.00151. These gene frequencies are compared to those found in other populations. Analysis of 41 mother-child pairs was in agreement with an autosomal codominant inheritance.     

Properdin factor B(Bf) polymorphism in the population of Veneto, Italy

The distribution of Bf phenotypes in the population of Veneto was investigated by agarose gel electrophoresis and immunofixation. In our sample (n = 592), the seven common phenotypes F, S, F-S, S-S0.7, S-F1, F-S0.7, F-F1 were observed and the following gene frequencies calculated: Bf*S = 0.7399; Bf*F = 0.2280; Bf*F1 = 0.0177; Bf*S0.7 = 0.0144. These gene frequencies are compared to those found in other populations. Analysis of 21 mother-child pairs was in agreement with an autosomal codominant inheritance.