Discovery and Characterization of Mannan-Specialized GH5 Endo-1,4-β-mannanases: a Strategy for Açaí ( Mart.) Seeds Upgrading.

The pulp of açaí palm fruits ( Mart.) is a valuable export commodity in Brazil. Its production generates 1.

Constraints and advances in high-solids enzymatic hydrolysis of lignocellulosic biomass: a critical review.

The industrial production of sugar syrups from lignocellulosic materials requires the conduction of the enzymatic hydrolysis step at high-solids loadings (i.e., with over 15% solids [w/w] in the reaction mixture).

Variants in the IL17 pathway genes are associated with atopic asthma and atopy makers in a South American population.

Background: Asthma is a complex disorder with multiple phenotypes which can influence its severity and response to treatment. The T17 lymphocytes producing IL-17A and IL17-F cytokines, may have a role on asthma inflammation. The aim of our study was to evaluate the association between genetic variants in pathway genes with asthma and atopy markers.

X-chromosome STR markers data in a Cabo Verde immigrant population of Lisboa.

Population genetic data of 12 X chromosomal short tandem repeats markers (DXS10074, DXS10079, DXS10101, DXS10103, DXS10134, DXS10135, DXS10146, DXS10148, DXS7132, DXS7423, DXS8378 and HPRTB) were analysed in 54 females and 95 males of an immigrant population from Cabo Verde living in Lisboa. The obtained results for forensic statistical parameters such as observed heterozigosity, polymorphism information content, power of discrimination and mean exclusion chance, based on single allele frequencies, reveal that this multiplex system is highly informative and can represent an important tool for genetic identification purposes in the immigrant population of Cabo Verde. Since the studied short tandem repeats genetic markers are distributed on four linkage groups, that can provide independent genotype information, we studied those groups as haploytes.

Population data of the AmpFlSTR® NGM™ loci in South Portuguese population.

Allele frequencies and other relevant forensic parameters for 15 loci studied with AmpFlSTR(R) NGM™ kit were calculated in a population of individuals residing in the south of Portugal. Blood stain samples were obtained from a total of 452 unrelated individuals involved in paternity testing casework. The kit has five loci - D10S1248, D22S1045, D2S441, D1S1656 and D12S391 not present in any other kit used in our laboratory (Powerplex 16 System and Identifiler Plus).

2006 GEP-ISFG collaborative exercise on mtDNA: reflections about interpretation, artefacts, and DNA mixtures.

We report the results of the seventh edition of the GEP-ISFG mitochondrial DNA (mtDNA) collaborative exercise. The samples submitted to the participant laboratories were blood stains from a maternity case and simulated forensic samples, including a case of mixture. The success rate for the blood stains was moderate ( approximately 77%); even though four inexperienced laboratories concentrated about one-third of the total errors.

Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study.

A collaborative work was carried out by the Spanish and Portuguese International Society for Forensic Genetics Working Group in order to extend the existing data on Y-short tandem repeat (STR) mutations at the 17 Y chromosome STR loci included in the AmpFlSTR YFiler kit (Applied Biosystems): DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATA H4.1. In a sample of 701 father/son pairs, 26 mutations were observed among 11,917 allele transfers across the 17 loci.

Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group.

The mitochondrial DNA (mtDNA) working group of the GEP-ISFG (Spanish and Portuguese Group of the International Society for Forensic Genetics) carried out an inter-laboratory exercise consisting of the analysis of mtDNA sequencing patterns in mixed stains (saliva/semen and blood/semen). Mixtures were prepared with saliva or blood from a female donor and three different semen dilutions (pure, 1:10 and 1:20) in order to simulate forensic casework. All labs extracted the DNA by preferential lysis and amplified and sequenced the first mtDNA hypervariable region (HVS-I).

Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stain.

We report here a review of the seventh mitochondrial DNA (mtDNA) exercise undertaken by the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) corresponding to the period 2003-2004. Five reference bloodstains from five donors (M1-M5), a mixed stain of saliva and semen (M6), and a hair sample (M7) were submitted to each participating laboratory for nuclear DNA (nDNA; autosomal STR and Y-STR) and mtDNA analysis. Laboratories were asked to investigate the contributors of samples M6 and M7 among the reference donors (M1-M5).

Mutation rates at Y chromosome specific microsatellites.

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.

Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial.

We report the results of the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) Collaborative Exercise 2002-2003 on mitochondrial DNA (mtDNA) analysis. Six different samples were submitted to the participating laboratories: four blood stains (M1-M2-M3-M4), one mixture blood sample (M5), and two hair shaft fragments (M6). Most of the labs reported consensus results for the blood stains, slightly improving the results of previous collaborative exercises.

A STR mutation in a heteropaternal twin case.

A heteropaternal male twin case with two men being alleged fathers was investigated as requested by the Court. Up to 37 PCR-based polymorphic DNA systems were studied in this case which was complicated by a paternal ACTBP2 mutation detected in one twin. This is the first report on a STR mutation in a double paternity case where both biological fathers were indisputably identified.

Sequence variation of new alleles at the short tandem repeat D19S253 locus.

This paper reports the sequences of two new alleles identified in a population database study on the short tandem repeat D19S253 locus. A Portuguese Caucasian population and a Portuguese African population were studied. Forty-four selected alleles were sequenced and 11 different alleles were found.

Portuguese population and paternity investigation studies with a multiplex PCR--the AmpFlSTR Profiler Plus.

A Portuguese Caucasian population of 146 unrelated individuals was studied. DNA samples were amplified by multiplex PCR for D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 using the AmpFlSTR Profiler Plus PCR Amplification Kit (Perkin-Elmer). All loci met Hardy-Weinberg expectations.

South Portuguese population data on the loci HLA-DQA1, LDLR, GYPA, HBGG, D7S8 and Gc.

Five South Portuguese Caucasian subpopulations were analyzed for the HLA-DQA1, LDLR, GYPA, HBGG, D7S8 and Gc loci. Genotype distributions for these loci did not deviate from Hardy-Weinberg expectations. The allele and genotype frequencies found have been compared with previously published data from North and Central Portugal.

Alpha-1-antitrypsin and transferrin null alleles in the Portuguese population.

In a Portuguese family, a null allele was found in the Pi system. An apparent 'exclusion' of the mother was found to be due to the presence of null alleles in mother and child. A transferrin (Tf) null allele was found in a case of disputed paternity.

Hyperamylasemia with an abnormal isoamylase distribution in patients with liver diseases.

Isoenzymes of amylase were studied in sera from 95 patients with various liver diseases and 82 controls. Twenty-two patients and two controls had hyperamylasemia. Four different zymograms were obtained by isoelectric focusing--normal, pancreatic, salivary/pancreatic, and double pancreatic.