P. Moreno

Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (North-East Spain)

Abstract Haplotype frequencies for eight Y-chromosomal short tandem repeat (STR) loci were determined in ¶a 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 ¶Y-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.

Population genetics of the D12S391, CSF1PO and TPOX loci in Catalonia (Northeast Spain)

Abstract 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.

Population study of the HUMTH01, HUMVWA31A, HUMF13A1, and HUMFES/FPS STR polymorphisms in the north of Portugal.

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.

Catalonian population study of the tetranucleotide repeat loci D3S1358, D8S1179, D18S51 and D19S253

Abstract 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.

Population study of Aymara Amerindians for the PCR-DNA polymorphisms HUMTH01, HUMVWA31A, D3S1358, D8S1179, D18S51, D19S253, YNZ22 and HLA-DQα

Abstract Allele and genotype frequencies for eight DNA polymorphisms (HUMTH01, HUMVWA31A, D3S1358, D8S1179, D18S51, D19S253, YNZ22 and HLA-DQα) 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.

Population study of the STRs HUMTH01 (including a new variant) and HUMVWA31A in Catalonia (northeast Spain)

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.

Suitability of the YNZ22 (D17S5) VNTR polymorphism for legal medicine investigations in the population of Catalonia (Spain)

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.)ZusammenfassungAllelfrequenzen und phänotypische Häufigkeiten des Locus YNZ22 wurden in einer katalanischen Bevölkerungsstichprobe (Spanien) mittels der Polymerase-Kettenreaktion bestimmt. 14 Allele und 56 Phänotypen wurden bei insgesamt 311 nicht verwandten Individuen beobachtet. Eine Abweichung vom Hardy-Weinberg Gleichgewicht wurde nicht festgestellt. Die Heterozygotenrate betrug 81,35%. Der Polymorphismus YNZ22 ist mit einem CE-Wert von 70% und einem EM (Essen-Möller)-Wert von 9,35 (log) zur Vaterschaftsuntersuchung geeignet.

The Bubi population of Equatorial Guinea characterised by HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51 and D19S253 STR polymorphisms

Abstract 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.

Distribution of the HLA-DQα Alleles and Genotypes in a Sample of a Population from Barcelona (Spain)

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.

Population study of the STRs HUMCD4 and HUMF13A1 in Catalonia (Northeast Spain)

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.