Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain.

Background/aims: We identified and studied 13 patients carrying the P301L mutation in the MAPT gene from the same area (Baix Llobregat County) in Barcelona, Spain.

Methods: The demographic and clinical features were reviewed retrospectively. Detailed neuropathological characterization was obtained in 9 subjects.

Analysis of 16 autosomal STRs and 17 Y-STRs in an indigenous Maya population from Guatemala.

The aim of this study was to contribute new data on autosomal STR and Y-STR markers of the Mayas from Guatemala in order to improve available databases of forensic interest. We analyzed 16 autosomal STR markers in a population sample of 155 indigenous Maya and 17 Y-chromosomal STR markers in the 100 males of the sample. Deviations from Hardy-Weinberg equilibrium and linkage disequilibrium between autosomal STR markers were not observed at any loci.

Polymorphisms in alcohol and tobacco metabolism genes in head and neck cancer in the Basque Country.

Background: The Basque Country has one of the highest rates of head and neck squamous cell carcinoma (HNSCC) in Europe, although tobacco and alcohol consumption are not high when compared to other European countries where HNSCC incidence is lower. Our aim was to determine the role of genetic variation with regard to the metabolism of alcohol and carcinogens from tobacco smoke in the Basque Country.

Methods: Fourteen polymorphisms in alcohol or tobacco metabolism genes were genotyped in 84 HNSCC patients and 242 healthy individuals from the Basque Country.

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed.

Development and validation for identity testing of I-DNADuo, a combination of I-DNA1 and a new multiplex system, I-DNA2.

The I-DNADuo multiplex system combination is composed of previously validated I-DNA1 and a new short tandem repeat (STR) multiplex named I-DNA2 that analyses 11 STR loci plus amelogenin. I-DNADuo, with amplicon sizes ranging from 57 to 298 bp, is specifically designed to analyse amelogenin and 15 STR loci (ten of them plus amelogenin in duplicate), including all the STR loci of the CODIS, ISSL and ECL databases, and seven of the eight in GCL. The validation of I-DNADuo shows that it is a highly sensitive, robust multiplex system for obtaining individual genetic profiles and for detecting and preventing allelic dropouts.

[Genetic profiles of longevity and healthy cognitive aging in nonagenarians from the Basque Country].

Introduction: Currently there are notable differences in the aging of individuals in modern populations. While some of them enjoy a long healthy aging, others develop neurodegenerative diseases, such as Alzheimer's disease (AD). Environmental factors are critical, but genetics could explain the differences observed.

Study of six X-linked tetranucleotide microsatellites: population data from five Spanish regions.

We studied six X-linked microsatellites in a large group of Spanish individuals (n=614) from five different regions located in northern, central and southern Spain. All the markers had tetranucleotide repeat units (DXS9895, DXS9898, DXS7130, DXS7132, GATA172D05 and DXS6789). They were amplified in two triplex PCR reactions.

p16INK4A gene alterations are not a prognostic indicator for survival in patients with hepatocellular carcinoma undergoing curative hepatectomy.

Background And Aim: Hepatocellular carcinoma (HCC) is a common malignancy worldwide that is highly associated with chronic hepatitis B or C infection and cirrhosis. The tumor suppressor gene p16INK4A is an important component of the cell cycle and inactivation of the gene has been found in a variety of human cancers. The present study was performed to determine genetic and epigenetic alterations in the p16INK4A tumor suppressor gene and the effect of these on HCC progression.

No association between GSTP1 gene aberrant promoter methylation and prognosis in surgically resected hepatocellular carcinoma patients from the Basque Country (Northern Spain).

Aims: Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide, being linked etiologically to several factors. Glutathione-S-transferases (GSTs) are a family of enzymes that play an important role in detoxification. Hypermethylation of regulatory sequences at glutathione-S-transferase pi class gene (GSTP1) has been found in different human tumor types.

Frequent loss of p53 codon 72 Pro variant in hepatitis C virus-positive carriers with hepatocellular carcinoma.

Codon 72 exon 4 polymorphism of the p53 gene has been implicated in cancer risk and it has been suggested that it may have an impact on the clinical outcome of the disease. Our objective was to evaluate the association between p53 polymorphism at codon 72 and hepatocellular carcinoma. The p53 codon 72 genotype was examined in 97 biopsy samples from 67 Basque patients histologically diagnosed with hepatocellular carcinoma.

Population genetic data of eight tetrameric short tandem repeats (STRs) in Casablanca resident population to use in forensic casework.

The allele frequencies for eight short tandem repeat (STR) loci HUMvWA, HUMFES/FPS, HUMF13A, HUMF13B, HUMTHO1, HUMTPOX, HUMCSF1P0, HUMLPL included in Geneprint STR kits were obtained from 234 unrelated individuals in Casablanca.

Sequence structure and population data of two X-linked markers: DXS7423 and DXS8377.

DXS7423 and DXS8377 are two microsatellite markers located in the q28 band of chromosome X. We developed a protocol to amplify both markers in a single reaction, sequenced the most common alleles and studied allele frequencies in a Spanish population sample. DXS7423 allele variability was due to different numbers of (TCCA) repeats and five different alleles were found with apparent sizes between 181 and 197 bp.

Phylogenetics of worldwide human populations as determined by polymorphic Alu insertions.

Alu elements, the largest family of interspersed repeats, mobilize throughout the genomes of primates by retroposition. Alu are present in humans in an excess of 500 000 copies per haploid genome. Since some of the insertion alleles have not reached fixation, they remain polymorphic and can be used as biallelic DNA marker systems in investigations of human evolution.