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Allele frequencies for 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D19S433, HUMVWA31A, HUMTPOX, D18S51, D3S1358, HUMTHO1, D13S317, D16S539, D2S1338, D5S818 and HUMFGA) were analysed in the Fang population of Bioko Island, Equatorial Guinea. No deviation from Hardy-Weinberg equilibrium was found for all loci. Statistical parameters demonstrated the forensic utility of the analysed systems.

The aim of this study is to characterise genetically the Annobon Island population to compare it with other ethnic groups from Equatorial Guinea. Annabon Island is volcanic, with an area of 17km 2 and 5008 inhabitants (according to the 2001 census). Haplotype frequencies for 16 Y-chromosomal STR loci, included in the Y-Filer™ kit, were determined in 31 unrelated healthy males. Twenty-three different haplotypes of Y-chromosome were identified and 17 were unique. Haplotype diversity was 0.9785. Allele frequencies for 15 STR loci, included in the AmpF l STR ® Identifiler™ kit, were analyzed in 69 unrelated healthy individuals. For all polymorphisms, the observed genotype frequencies are in good agreement with the expected distribution under Hardy–Weimberg law. From a forensic point of view the heterozygosity value, power of discrimination and the a priori chance exclusion value were calculated to be >0.9999, >0.9999 and 0.9999995, respectively. The population data obtained for these loci were compared with the Fang and Bubi population from Equatorial Guinea, previously published by our group.

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448) loci, included in the AmpFLSTR ® YfilerTM PCR Amplification Kit, were analysed in 110 Fang and 133 Bubi individuals from Bioko Island, Equatorial Guinea. The diversity was higher in Fang population, probably since they were originally from the mainland, with which they maintain tribal village and family links, and to which they travel frequently. Comparisons were made with previously published haplotype data on European and African populations, and significant differences were found between them.

POPULATION: Amerindian populations: Huastecos (n=97), Otomies de la Sierra (n=41), Otomies del Valle (n=40), and Tepehuas (n=13).

The 15 AmpF/STR Identifiler loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) were analyzed in the sample of 180 unrelated autochthonous healthy adults born in Meztitlán City from the valley of Metztitlán (Estado de Hidalgo, México). The agreement with Hardy-Weinberg equilibrium was confirmed for all loci. From the forensic point of view, the heterozygosity value, power of discrimination and the a priori chance of exclusion were calculated.

The purpose of this study is to report allele frequency data of three ethnic Amerindian population samples: the Otomi (Hna-hnu) from eastern Sierra Madre and Ixmiquilpan valley and the Huasteco from La Huasteca. These groups were characterised by 15 STR-PCR polymorphisms (HumTH01, HumvWA, D18S51, HumTPOX, D19S433, D16S539, D13S317, D8S1179, D7S820, D5S818, HumFGA, CSF1PO, D2S1338, D3S1358 and D21S11). No significant deviations in observed allelic frequencies from Hardy-Weinberg equilibrium were found for all the studied systems. From the forensic point of view, the heterozygosity value, power of discrimination and the a priori chance of exclusion were calculated.

The purpose of this study is to report allele frequency data of a Huastecos ethnic group population sample (n=89) from La Huasteca (Hidalgo, Mexico) for 12 STR-PCR polymorphisms (HumTH01, HumvWA, D18S51, HumTPOX, D19S433, D16S539, D13S317, D8S1179, D7S820, D5S818, HumFGA and D21S11). No significant deviations from Hardy-Weinberg expectation were found for all short-tandem repeats (STR). From forensic point of view, the heterozygosity value, power of discrimination and the a priori chance exclusion value were calculated. D 2003 Elsevier B.V. All rights reserved.

The purpose of this study is to report allele frequency data of Hna hnu (Otomi) ethnic Amerindian group population sample from La Sierra Otomi-Tepehua (Estado de Hidalgo-Mexico) for 14 STR–PCR polymorphisms (HumTH01, HumPenta D, HumPenta E, HumvWA, D18S51, D16S539, D13S317, D8S1179, D7S820, D5S818, D3S1358, HumCSF1PO, HumFGA and D21S11).

Allele and genotype frequencies for the 3'-ApoB locus were determined in a population sample from Catalonia (northeast Spain) using PCR amplification and nonradioactive detection. In a total of 308 unrelated individuals, 16 alleles and 50 genotypes were observed. The 3'-ApoB locus demonstrated a heterozygosity of 80%. The distribution of genotypes is in agreement with expected values according to the Hardy-Weinberg equilibrium.

Six STR (HumvWA, HumTH01, HumTPOX, HumCSF1PO, D3S1358 and D19S253) have been analyzed in an Otomi population sample from Mexico. No deviations from Hardy–Weinberg equilibrium were found for all systems studied. Significant differences in allele frequencies were found between the Aymara and Otomi populations for four systems (HumTH01, HumvWA, D3S1358 and D19S253). This suggest a certain degree of genetic differentiation between the two populations.

Allele frequencies for eight STR loci (HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51, D19S253) have been analysed in the Bubi population of Bioko Island, Equatorial Guinea. For all loci, no deviation from Hardy-Weinberg equilibrium was found. Data obtained were compared with that of Caucasian and African populations. Significant differences were found for all systems between all the black populations compared and the Caucasoid population. Similarities were observed between the Bubi and Zimbabweans, and also with African American populations. Also, more affinities were observed between Zimbabweans and Ugandans and Ovambos than between these groups and the Bubi population. From these comparisons it is suggested that in Africa, as in other continents, there is a certain genetic heterogeneity.

Allele frequencies for four short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 8 alleles were identified for D3S1358 (n = 201), 10 alleles for D8S1179 (n = 198), 13 alleles for D18S51 (n = 197) and 11 alleles for D19S253 (n = 201). No deviation from Hardy-Weinberg equilibrium was found. Complete and relative uniformity in Caucasoid populations has been observed for D18S51 and D8S1179 respectively. Pronounced differences were found between different ethnic groups for both systems. Catalonia and Portugal do not differ for D3S1358 locus. Multiplex PCR amplifications of three loci (D3S1358, D18S51 and D19S253) without overlapping fragment size ranges could be interesting for monochrome automated laser fluorescence devices.

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (STR) loci, included in the Y-Filer™ kit, were determined in 247 unrelated healthy individuals from the Barcelona metropolitan area (Catalonia, NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4.1, DYS437, DYS438 and DYS448 loci were typed. The aim of this study is to evaluate the performance in our population of the 16 loci of the Y-chromosome present in the new Y-Filer™ commercial identification kit, and acquire haplotype frequencies for mathematic processing of the forensic diagnosis in our geographical working area. In this sample, all haplotypes were unique. From the forensic point of view, the combined polymorphisms of the Y-Filer™ kit provide a high diagnostic efficiency.

Allele and genotype frequencies for three short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 11 alleles were identified for D12S391 (n = 167), 9 alleles for CSF1pO (n = 282) and 6 alleles for TPOX (n = 283). No deviation from Hardy-Weinberg equilibrium was found. The allele frequencies observed are similar to those of other compared European populations.

Specific apolipoprotein E alleles have been associated in the last few years with several diseases using appropriate controls. However, these control groups are rarely representative of the general population since they correspond either to aged or healthy control groups (and thus depleted of pathological alleles). For this reason it is difficult at present to compare population allelic frequencies in different countries. In order to provide this essential basic data representative of the general population, in this work we have determined the distribution of apolipoprotein E alleles in 226 individuals from the population of Catalonia (Spain) sampled with the main purpose of paternity testing. The allelic frequencies are: e2 = 0.064, e3 = 0.810 and e4 = 0.126, predicting a lower incidence of Alzheimer disease and possibly also of other pathologies where this allele is a risk factor.

Allele frequencies for 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D19S433, HUMVWA31A, HUMTPOX, D18S51, D3S1358, HUMTHO1, D13S317, D16S539, D2S1338, D5S818, and HUMFGA) were analyzed in a Mexican population: Choles from Chiapas State. The aim of the study was to obtain accurate allele frequencies data and other genetic parameters of forensic interest on the Amerindian ethnic groups from Mexico, using an automatic method and commercial amplification kit. The agreement with HWE (Hardy-Weinberg equilibrium) was confirmed for all loci (based on the X2-test).

Biological paternity research in Catalonia (north-eastern Spain) began in 1976 when Dr. Castillo, Dr. Gelabert and Dr. Huguet studied the first case at the Department of Forensic and Legal Medicine of the University of Barcelona in cooperation with the Haemostasis and Hemotherapy Service and the Blood Bank of the Hospital Clinic in Barcelona. In the knowledge that each human is genetically unique as a result of genetic polymorphism, blood group antigen typing and other immunological techniques including human histocompatibility leukocyte antigen (HLA) typing became widely used for paternity testing and forensic science application until the end of the 1970s. However, biological tests were not accepted by the courts in Spain until 1981 when the Civil Code was reformed. With the support of Dr. Carracedo from the University of Santiago, in 1982 Dr. Huguet and Dr. Gene, who are still actively researching, set up the Haemogenetic Forensic Laboratory at the University of Barcelona and this area of the Legal Medicine Unit was thus consolidated. It was the first Forensic Genetics Laboratory in Catalonia. The aim of this study is to conduct a retrospective analysis of paternity testing cases over the past 35 years. We report on the social and legal development of the cases analysed, grouped into different periods of time. The results on paternity and non-paternity claims were studied included exclusion and non-exclusion rates. Biomathematical performance values were reported for each methodology stage (number of exclusions, average paternity probability values, population index, etc.).

The problem oftentimes faced by forensic scientists when working with DNA extracted from exhumations and skeletal remains is either DNA degradation or DNA contamination. Various methods have been used to improve the identification of skeletal remains using DNA technology. Most of these systems include short tandem repeat (STR) analyses. Herein, we describe our work on the identification of individuals involved in a paternity test where all parents, the mother and the two alleged fathers, had died between 10 and 58 years ago. Trace amounts of highly degraded human DNA were successfully extracted from each bone. Despite the presence of DNA inhibitors in the amplification, microsatellite alleles could be reproducibly amplified from the femur. DNA was extracted from bone which was turned into fine powder, then proteolytic digestion followed by phenol/chloroform purification and Centricon ® -100 filtration took place. Our experience indicated that the AmpFlSTR ® MiniFiler™ used as a complement to the AmpFlSTR ® Identifiler Plus™ Kit forms an extremely sensitive multiplex STR amplification system. It has been successfully used to obtain multilocus STR profiles from bone samples with minimal amounts of human DNA. We report on the genotyping results obtained from each kit and the biomathematical results of paternity testing.

It will only be a matter of time before physicians can screen patients for susceptibility to a disease by analyzing their DNA for specific SNP profiles. The study of SNPs associated with dopamine and serotonin systems has a strong interest because of their roles in controlling behaviour and mental status. According to the increasing understanding of the genetic bases of human behaviour, the possible role of SNPs in developmental psychopathologies could be important in forensic studies. Furthermore, the growing interest of forensic researchers in autosomal SNPs is due to the potential advantages in human identity and paternity testing, because of the low rate of mutation and the possibility of analyzing highly degraded samples. The purpose of this study is to report allele frequency data of a Catalonian population sample ( n =408) from Spain for six SNPs, related to a neurotransmitter pathway genes (ANKK1, DRD2B, HTR1B, TPH1, ADRA2A and OPRM1). No significant deviations from Hardy–Weinberg expectation were found for all SNPs. From a forensic point of view the heterozygosity value, power of discrimination and the a priori chance exclusion value were calculated.

Allele and genotype frequencies at the HLA-DQ alpha locus were determined by the use of polymerase chain reaction (PCR) and the reverse dot blot format. 6 HLA-DQ alpha alleles and 21 genotypes were detected among the 178 unrelated individuals from Barcelona. A fair agreement was found between observed and expected numbers assuming a Hardy-Weinberg equilibrium. The Barcelona population is statistically similar to the Finnish population, but differs significantly from the Japanese, Black and Caucasoid series.

Allele frequencies for four short tandem repeat loci were determined in a population sample from Porto (North Portugal), using the polymerase chain reaction (PCR), in order to investigate possible genetic differences between populations from the center and north of Portugal. After denaturing PAGE electrophoresis, nine alleles were identified for D3S1358 (n = 256), 13 alleles for D18S51 (n = 235), 10 alleles for D19S253 (n = 238), and 15 alleles for FGA (n = 181). No deviations from Hardy-Weinberg equilibrium were found. The allele frequencies observed are similar to those of the Portuguese population compared except for the D3S1358 system.

Allele and genotype frequencies for eight DNA polymorphisms (HUMTH01, HUMVWA31A, D3S1358, D8S1179, D18S51, D19S253, YNZ22 and HLA-DQalpha) were determined in a population sample of Aymara Indians from Bolivia using PCR. No deviations of the observed allelic frequencies from Hardy-Weinberg equilibrium were found for all the systems studied. Significant differences in the allele frequencies were found between the Aymara and Quechua populations only for HUMVWA31A, which suggests a certain degree of genetic differentiation between the two populations.

Haplotype frequencies for eight Y-chromosomal short tandem repeat (STR) loci were determined in paragraph signa population sample from Barcelona (NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS19, DYS388, DYS389 I/II, DYS390, DYS391, DYS392 and DYS393 loci were typed. Complete eight paragraph signY-chromosomal STRs haplotypes could be formed for 223 subjects, among which 137 different haplotypes were observed. The most common haplotype was shared by 13% of the sample, while 108 haplotypes were unique. The discrimination capacity was 61.5% and the gene diversity was 0.978. From the forensic point of view the combined polymorphisms provide a high diagnostic efficiency.

blood donors from the general population (n 5 192). All patients and controls were Northwestern Mediterranean controversial since the initial phenotyping studies showed a Caucasians. The results show that the GSTM1 null genotype clear association between class μ GST deficiency and lung (GSTM1*0/GSTM1*0) was slightly over represented in the cancer risk (5,6) but the later genotyping studies have shown lung cancer patients (frequency of 58%; OR: 1.40, 95% discrepant results (12,13). Furthermore, some studies on CI: 0.74‐2.61, referred to healthy smokers). The histological bladder cancer have suggested that the possible protective type most clearly modified was small cell carcinoma (fre- effect of the alleles GSTM1*A and GSTM1*B may not be quency of 62.2%, OR: 1.91, CI: 0.78‐4.69). The subdivision identical (14) whereas others have found that GSTM1*A/B of the patients with one or two copies of the GSTM1 heterozygosity, but not GSTM1*Aor GSTM1*B, was protective gene according to a GSTM1*A, GSTM1*B or GSTM1*A/B among skin cancer patients with multiple basal cell carcinomas genotype (frequencies of 28.2 %, 11.2%, 2.5% respectively) (11). This has lead some authors to suggest that a model based revealed no significant differences between the cases and on the hypothesis that GSTM1*0 alone confers increased risk both control groups. The frequency of the deleted GSTT1 may be too simplistic and that the role of the different GSTM1 genotype among the lung cancer patients (24%) was not alleles and of other genes of the same family such as GSTM3 significantly increased (OR: 1.08, CI: 0.57‐2.05, referred should be taken into account (15). to healthy smokers). The results showed that 14.4% of the Another polymorphic gene of the same family is GSTT1 patients presented homozygous deletion of both GSTT1 which encodes for a class θ GST that catalyzes the conjugation and GSTM1 (12.5% among healthy smokers) suggesting of halomethanes in human erythrocytes (16,17). Substrates of no potentiation between null genotypes for lung cancer risk. θ GST include industrial chemicals such as methyl chloride, methyl bromide, dichloromethane, ethylene oxide and diepoxybutane, a reactive metabolite of 1,3-butadiene. Indi

Allele and genotype frequencies were determined in a population sample from Catalonia (northeast Spain) for two short tandem repeat loci (HUMCD4 and HUMF13A1), using the polymerase chain reaction (PCR). After denaturing PAG electrophoresis, 6 alleles were identified for HUMCD4 in a sample of 157 unrelated individuals, and 11 alleles for HUMF13A1 in a sample of 141 individuals. No deviation from Hardy-Weinberg equilibrium was found. The HUMCD4 and HUMF13A1 loci demonstrated a heterozygosity of 0.6815 and 0.7305 respectively.

Allele and genotype frequencies for 2 short tandem repeat loci were determined in a population sample from Catalonia (Spain) using the polymerase chain reaction. After denaturing PAG electrophoresis, seven common and one variant (13.3) alleles were identified for HUMTH01 in a sample of 234 unrelated individuals, and seven alleles were found for HUMVWA31A in 162 individuals. No deviation from Hardy-Weinberg equilibrium was found. The observed heterozygosities are 76.92 and 79.62 respectively. The discrimination power determined for the individual loci is 0.928 and 0.937 respectively.

Allele and phenotype frequencies for the YNZ22 locus were determined in a population sample from Catalonia (Spain) using the polymerase chain reaction (PCR). In 311 unrelated individuals, 14 alleles and 56 phenotypes were observed. No deviation from Hardy-Weinberg equilibrium was found. The observed heterozygosity was 81.35%. The YNZ22 polymorphism is useful for paternity testing with a CE value of 70% and an Essen-Möller value of 9.35 (log.).

The polymerase chain reaction (PCR) method has been applied to amplify three minisatellites: D1S80 (pMCTl18), 3′ ApoB, and YNZ22 (D17S5), variable number of tandem repeats (VNTRs) on a random population sample from Catalonia.

The human genome contain DNA segments with variable number of short tandemly repeated sequences (STR). The copy number of such core sequences reveals a highly polymorphism larger than that detected by classical serologic and biochemical genetic markers.

Paternity testing is an important aspect of the Forensic Laboratory in Spain since the reform of the civil code of 1981 about filiation. Peculiarities of the catalan civil law in paternity allowed the Forensic Hemogenetics Investigation Group of the School of Medicine of the Barcelona University to became one of the pioneers in this field in Spain. Ours was the first forensic laboratory in Spain that employed the HLA polymorphism to the paternity testing (1976).

Allele and genotype frequencies for the D1S80 (MCT118) locus have been determined in a population sample from Barcelona (Spain) using the polymerase chain reaction (PCR) amplification and nonradioactive detection. In a total of 216 unrelated individuals, 24 alleles (23 common and 1 rare variant) and 67 genotypes (64 common and 3 variants) were observed. The 216 individuals came from 162 blood samples taken for paternity studies, 16 bloodstains from forensic cases, and 38 root hairs from normal individuals. The D1S80 locus demonstrated a heterozygosity of 0.7916, and a power of discrimination of 0.9731. The distribution of genotypes is in agreement with expected values according to the Hardy-Weinberg equilibrium. Additionally, the population from Barcelona differs, significantly, from the Finnish population and also, but with lower differences, from a U.S.A. Caucasian population. © 1993 Wiley-Liss, Inc.

We report here the results of a survey of HLA DQα polymorphism studied by the polymerase chain reaction (PCR) in 110 samples from people living in Catalonia (North-east Spain). In agreement with others, we conclude that it is a useful marker in forensic evidence analysis and in paternity testing.

Allele Frequencies for Three STR Loci in a Population Sample from Catalonia (Spain) Using a Simple Manual Triplex PCR Method

Allele and genotype frequencies of DNA polymorphisms were determined in a population sample of Quechua (n = 113) using the polymerase chain reaction (PCR). We report data on the frequencies of HLA-DQα, YNZ22, 3′ApoB, HUMTH01 and HUMVWA31A alleles and the distribution of the different genotypes. No significant deviations between observed and expected numbers were found, thus assuming the Hardy-Weinberg equilibrium.

Allele and genotype frequencies of four short tandem-repeat loci were determined in a population sample from the North of Portugal using the polymerase chain reaction (PCR). After denaturing PAGE, 6 alleles were identified for HUMTH01 (n = 419), 9 alleles for HUMVWA31A (n = 376), 12 alleles for HUMF13A1 (n = 232), and 5 alleles for HUMFES/FPS (n = 409). No deviation from Hardy-Weinberg equilibrium was found. The allele frequencies observed are similar to those of the European populations compared. The combined power of discrimination is 0.999.

Protamines are among the most variable nuclear proteins known in eukaryotes. In order to learn more about their evolution and function in humans and to explore the possibility of potential applications in forensic medicine we have developed a rapid method to amplify and directly sequence the protamine P1 gene simultaneously in many different samples. The method takes only 3.5 h from genomic DNA to the sequencing reactions. Despite the high variability of these genes only one polymorphic site was detected at the coding region level in different individuals. This polymorphic variation does not create a change in the amino-acid sequence of the protamine. Because all the protamine genes sequenced from different species are markedly different among them as well as to the human sequence, amplification and direct sequencing of this gene can be used to unequivocally identify the human or animal origin of biological specimens. Furthermore, the single polymorphic site detected in the human P1 gene could be useful in conjunction with other markers in identification studies in humans.

The application of isoelectric focusing to the analysi. of some polymorphisms has revealed considerably more genetic heterogeneity than was apparent by conventional methods.

Alpha-1-acid glycoprotein or orosomucoid (ORM) is a globulin characterized by a very high carbohydrate content (45%), a large number of syalyc residues and an extremely acidic isoelectric point (pI 2.7–3.5) (Schmid 1975).

Blood samples (n = 224) from healthy unrelated individuals (males) were collected. DNA was extracted by using the phenolchloroform-isoamyl alcohol method (1). Hot-start PCR triplex (Triplex I: DYS19 and DYS389 I/II; Triplex II: DYS390, DYS391 and DYS393) and singleplex (DYS392) amplifications were accomplished with fluorescein labelled primers by the method published by Gene et al. (2). The primers used were those described by Kayser et al. (3) and de Knijff et al. (4). DYS385 locus was analyzed following the method and primers described by EDNAP group (5). Genotypes were analyzed in denaturing 6% polyacrilamide gel electrophoresis, using a monochrome automated laser fluorescence sequencer. The alleles from all loci reported were typed according to the published nomenclatures and the ISFG guidelines for STR analyses. Our group have received the certify of excellence in the Y-STR Haplotyping Quality Assurance Exercise 2000–2001 (http:/www.ystr.org).