25 documents found, page 1 of 3
X-chromosomal STRs: Metapopulations and mutation rates
Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M.A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from p...
X-chromosomal STRs: Metapopulations and mutation rates
Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M.A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from p...
HLA-DQA1 and HLA-DQB1 allele diversity and its extended haplotypes in Madeira I...
Spínola, H.; Lemos, A.; Couto, A. R.; Parreira, B.; Soares, M.; Dutra, I.; Bruges-Armas, J.; Brehm, A.This study shows, for the first time, high-resolution allele frequencies of HLA-DQA1 loci in Madeira Island (Portugal) and allows us to better understand and refine present knowledge on DQB1 variation, with the identification of several alleles not previously reported in this population. Estimates on haplotype profile, involving HLA-A, HLA-B, HLADRB1, HLA-DQA1 and HLA-DQB1, are also reported.
Human leucocyte antigens class II allele and haplotype association with Type 1 ...
Spínola, H.; Lemos, A.; Couto, A. R.; Parreira, A.; Soares, M.; Dutra, I.; Bruges-Armas, J.; Brehm, A.; Abreu, S.This study confirms for Madeira Island (Portugal) population the Type 1 Diabetes (T1D) susceptible and protective Human leucocyte antigens (HLA) markers previously reported in other populations and adds some local specificities. Among the strongest T1D HLA associations, stands out, as susceptible, the alleles DRB1*04:05 (OR = 7.3), DQB1*03:02 (OR = 6.1) and DQA1*03:03 (OR = 4.5), as well as the haplotypes DRB1*...
Association of ADAMTS7 gene polymorphism with cardiovascular survival in corona...
Pereira, A.; Palma dos Reis, Roberto; Rodrigues, R.; Sousa, A. C.; Gomes, S.; Borges, S.; Ornelas, I.; Freitas, A. I.; Guerra, G.; Henriques, E.Recent genetic studies have revealed an association between polymorphisms at the ADAMTS7 gene locus and coronary artery disease (CAD) risk. Functional studies have shown that a CAD-associated polymorphism (rs3825807) affects ADAMTS7 maturation and vascular smooth muscular cell (VSMC) migration. Here, we tested whether ADAMTS7 (A/G) SNP is associated with cardiovascular (CV) survival in patients with established...
Association of ADAMTS7 gene polymorphism with cardiovascular survival in corona...
Pereira, A.; Palma dos Reis, R.; Rodrigues, R.; Sousa, A. C.; Gomes, S.; Borges, S.; Ornelas, I.; Freitas, A. I.; Guerra, G.; Henriques, E.Recent genetic studies have revealed an association between polymorphisms at the ADAMTS7 gene locus and coronary artery disease (CAD) risk. Functional studies have shown that a CAD-associated polymorphism (rs3825807) affects ADAMTS7 maturation and vascular smooth muscular cell (VSMC) migration. Here, we tested whether ADAMTS7 (A/G) SNP is associated with cardiovascular (CV) survival in patients with established...
Independent association of the variant rs1333049 at the 9p21 locus and coronary...
Mendonça, M.I.; Palma dos Reis, Roberto; Pereira, A.; Café, H.; Serráo, M.; Sousa, A.C.; Freitas, A.I.; Guerra, G.; Freitas, S.; Freitas, C.Introduction: Recent genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at the 9p21 locus as risk factors for coronary artery disease (CAD). Among them, the SNP rs1333049 has demonstrated a consistent association with CAD, which has been successfully replicated in several populations. Aim: To investigate whether the SNP rsl333049 located on the 9p21 chromosome is an independe...
HLA‐A polymorphisms in four ethnic groups from Guinea‐Bissau (West Africa) infe...
Spínola, C.; Bruges-Armas, J.; Brehm, A.; Spínola, H.Human leukocyte antigen (HLA)-A locus polymorphisms were examined at highresolution level, using sequence-based typing, in the four most representative Guinea-Bissau(NorthwestAfrica)ethnicgroups:Balanta,Bijago´ s,FulaandPapel. DespitetheFulagrouphavingsignificantdifferenceswhencomparedwiththeother three ethnic groups, all four groups most likely received a genetic input from non sub-Saharans. The Bijago´ s and ...
The Y-chromosome short tandem repeats variation within haplogroup E3b: evidence...
Fernandes, A. T.; Rosa, A.; Gonçalves, R.; Jesus, José; Brehm, A.Haplogroup E3b is defined by a single nucleotide mutation (SNP) in locus M35 and is found at high fre quency (more than 35%) in populations from North Africa with a heterogeneous distribution. On the basis of compilation of 553 Y-chromosomes from Europe and 633 from sub-Saharan Africa we selected 130 individuals belonging to haplogroup E3b and characterized subhaplogroups according to the Y-Chromosome Consortiu...
Cytochrome B Gene Partial Sequence and RAPD Analysis of Two Daphnia longispina ...
Martins, N.; Lopes, I.; Brehm, A.; Ribeiro, R.No abstract available.