Association Between the Interleukin-17 Gene Polymorphism -197G>A and the Risk of Prostate Cancer in a Galician Population.

A case-control study was carried out in which the role of the Single Nucleotide Polymorphism rs2275913 in the pathogenesis of prostate cancer was analysed for the first time. This polymorphism is located in -197 position of IL-17A gene and implies a A>G change. The sample consists of 433 Galician men, 241 of whom are prostate cancer patients and 192 are healthy men with no tumours.

Association of CASP3 genetic polymorphisms rs1049216, rs2705897 and rs4647603 with the risk of prostate cancer in Galicia (NW Spain).

Malfunction of apoptosis plays a key role in carcinogenesis. Previous studies have reported that polymorphisms in caspase genes could lead to poor apoptotic signaling, thus facilitating the onset of several human cancers. The aim of this study was to evaluate the association between three polymorphisms (rs1049216, rs2705897 and rs4647603) of the CASP3 gene and the risk of prostate cancer (PCa) in Galicia (NW Spain).

Y-chromosome variation in South Iberia: insights into the North African contribution.

Population of Pedroches Valley, a hypothetical Berber settlement, located in the northwest portion of Córdoba province (Andalusia, Spain), had been analyzed for its Y-chromosome diversity. Moreover, to contextualize this population, 127 Y-chromosomes from a general Andalusia sample and a North African Berber community (Marrakech, Morocco) were also typed. For all samples, 24 single nucleotide polymorphisms of the non-recombining portion of the Y-chromosome (NRY) were analyzed and those samples described as belonging to E3b1b-M81 haplogroup were also typed for 16 Y-chromosome short tandem repeats.

Allele distribution of 15 PCR-based loci in the Rwanda Tutsi population by multiplex amplification and capillary electrophoresis.

A genetic study of 15 autosomal STRs is carried out (D2S1338, D3S1358, D5S818, D7S820, D8S1 79, D13S317, D16S359, D18S51, D19S433, D21S11, CSF1PO, FGA, TPOX, THO1, VWA) in a sample of unrelated Tutsis. The molecular phenotypes were determined by means of multiplex strategies (AmpFlSTR Identifiler PCR Amplification Kit, Applied Biosystems) followed by capillary electrophoresis.

The Levant versus the Horn of Africa: evidence for bidirectional corridors of human migrations.

Paleoanthropological evidence indicates that both the Levantine corridor and the Horn of Africa served, repeatedly, as migratory corridors between Africa and Eurasia. We have begun investigating the roles of these passageways in bidirectional migrations of anatomically modern humans, by analyzing 45 informative biallelic markers as well as 10 microsatellite loci on the nonrecombining region of the Y chromosome (NRY) in 121 and 147 extant males from Oman and northern Egypt, respectively. The present study uncovers three important points concerning these demic movements: (1) The E3b1-M78 and E3b3-M123 lineages, as well as the R1*-M173 lineages, mark gene flow between Egypt and the Levant during the Upper Paleolithic and Mesolithic.

DYS19 and DYS390 Y-STR polymorphism in the Iberian Peninsula: a multivariate analysis.

Genetic polymorphism of two Y-specific short tandem repeats (DYS19 and DYS390) was investigated in six populations from the Iberian Peninsula (Andalusia, Castilla-La Mancha, Castilla-Leon, Extremadura, Galicia and South East Spain) comprising a total of 895 unrelated and native individuals, and a complete database of DYS19 and DYS390 allele frequency distributions in 34 world-wide populations collected from literature was analysed. DYS19 and DYS390 polymorphism was screened by automated fluorescence analysis of PCR-amplified labelled sample fragments performed with and ABI PRISM 377 Genetic Analyser. The degree of population differentiation was analysed using the STP Test to calculate G Statistic values.

Molecular phenotyping of a trinucleotide repeat (D5S373) experimental conditions.

The aim of this study is to assess the utility of the STR D5S373 in human identification. PCR amplification and electrophoretic separation were optimized in order to achieve unambiguous phenotyping. We concluded that primer concentration and annealing temperature are the main factors affecting the specificity of PCR.

New STR at the D5S373 locus and its relevance in human population studies.

The genetic analysis of a new trinucleotide repeat (D5S373) was carried out with a view to its application in both individual genetic profiling and human population genetics. In a screening analysis from seven world populations (n = 706) and after nucleotide sequence analysis, up to nine alleles were found corresponding to 8-13 repetitions of a TAA motif. This analysis shows He values ranging between 0.

Sub-Saharan genetic contribution in Morocco: microsatellite DNA analysis.

Northwest African populations occupy a strategic geographical area that has always been a zone of influence for diverse human groups from different regions. This article focuses on the analysis of the genetic contribution of sub-Saharan African populations by means of four short tandem repeat (STR) systems (HUMTPOX, HUMVWA31/A, HUMTHO1, and HUMF13B), which have proven informative in establishing genetic relationships between human populations. Genetic trees and multivariate analyses of European and Near Eastern populations show that the Moroccan population shares a common genetic substrate with all of them.

Population database of STRs in west Africa: a genetic study of TPOX, HUMVWA31/A, HUMTH01, and CYP19.

Four tetrameric STRs (TPOX, HUMVWA31/A, HUMTH01, and CYP19) were analysed in a West African population (Cabo Verde). No significant deviations from Hardy-Weinberg proportions were observed, either in conventional or exact tests. Pairwise comparisons confirmed allelic independence for all the combinations of loci.

Study of the ApoB 3' HVR in Galicia (NW Spain). An interpopulational analysis.

The genetic polymorphism of ApoB 3' HVR was analyzed in 200 unrelated individuals from Galicia, North-West Spain, using the polymerase chain reaction followed by horizontal electrophoresis in polyacrylamide gels and silver staining. Up to 17 alleles were detected in this way and a heterozygosity index of 77% was obtained. Significant deviations from Hardy-Weinberg equilibrium were detected using the conventional Pearson's chi 2, while the application of an exact test did not bring about significant values.

Further genetic variability of the VNTR D1S80 (pMCT118): Correspondence analysis studies.

A population genetic study of the VNTR D1S80 (pMCT118 locus) in 206 individuals from the Galician population in Spain was carried out. PCR amplified DNA were electrophoresed in horizontal polyacrylamide gels and subsequently were visualized by silver staining. Up to 19 alleles in 56 different genotypes were found.

Application of two STRs (VWA and TPO) to human population profiling: survey in Galicia.

We have studied two tetranucleotide short tandem repeats (STRs) (VWA and human TPO) in 260 individuals from Galicia by means of polymerase chain reaction amplification followed by electrophoresis separation and silver staining. The feasibility of the analytical technique and the level of polymorphism attained by both systems (PIC = 0.764 for VWA; PIC = 0.

Distribution of ITI phenotypes in the Iberian Peninsula: Negative correlation between ITI*3 frequencies and latitude in human populations.

The molecular phenotypes of ITI were analysed in samples from seven populations of the Iberian Peninsula (Galicia, Central Portugal, Castilla-Leon, Castilla-La Mancha, Extremadura, Western Andalusia, and Eastern Andalusia) by means of IEF in ultrathin layer polyacrylamide gels followed by immunofixation-silver staining. The observed ITI*3 frequencies exhibit the highest values thus far reported in European populations. Regression analysis between ITI*3 frequencies and latitude reveals a negative correlation (r = -0.

An alternative modality for the immunodetection of the molecular phenotypes of coagulation factor XIIIB.

A new technical modality for the typing of coagulation factor XIIIB (F13B) is described. The determination of F13B phenotypes was carried out from desyalized plasma samples by means of polyacrylamide gel isoelectric focusing (pH range 6-8) followed by immunofixation-silver stain. This method combines high sensitivity, low expenditure, and a single methodology.

Alpha-2-HS-glycoprotein gene frequencies in Galicia: further evidence for a cline in European populations.

alpha 2-HS-glycoprotein (AHSG) phenotypes were determined in 506 unrelated autochthonous individuals from the Galician population (NW Spain) by means of isoelectric focusing followed by silver stain immunofixation. The phenotype frequency distribution fitted with the Hardy-Weinberg law. No evidence of intrapopulation heterogeneity was observed.

Formal and population genetic studies of AHSG: further data from Galicia.

A sensitive immunodetection method for Alpha-2-HS glycoprotein (AHSG) after ultrathin layer polyacrylamide gel isoelectric focusing has been applied to a family study of 126 matings including 292 offspring. Formal genetic studies are in agreement with an autosomal mode of inheritance for this system. A population study of 506 unrelated individuals from Galicia (NW Spain) gave the following frequencies: AHSG*1 = 0.

Genetic heterogeneity of delta-aminolevulinate dehydrase and phosphoglycolate phosphatase in north-west Spain.

The distribution of delta-aminolevulinate dehydrase and phosphoglycolate phosphatase phenotypes was analyzed in 500 autochthonous individuals from the Galician population (north-west Spain). The gene frequencies for PGP2 and ALADH2 obtained in Galicia have proved to be the lowest of all the European populations so far examined. Comparisons with other world populations were also made.

Genetic heterogeneity of alpha-1-antitrypsin in the Galician population.

Alpha-1-antitrypsin phenotypes were determined in a sample of 496 individuals from Galicia (Northwest Spain) using isoelectric focusing in polyacrylamide gel slabs. Although PMi is the most frequently occurring allele the Galicians are having one of the highest PSi frequencies so far recorded. An allelocline for the distribution of the PSi allele within Europe is discussed.

Additional data on PGP genetic transmission in family groups.

PGP (phosphoglycolate phosphatase, EC 3.1.3.