A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2, GJB6 and MTRNR1 genes in the proband showed no alterations; however, whole exome sequencing detected a heterozygous mutation, c.1099C> T (p.Arg367*), in the GATA3 gene. Segregation analyses showed that the mother also had the mutation, but not the grandparent...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report
Abstract Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of less rigorous evidence. An analysis of cohort studies of enzyme replacement therapies for AFD published in 2017 by El Dib and coworkers made treatment recommendations that contradict previously published findings from RCTs and a systematic Cochrane review. Our commentary outlines concerns regarding selection criteria and statistical methods with their analysis. (Sourc...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Association between HPV infection and prostate cancer in a Mexican population
Abstract The aim of this study was to evaluate the association between prostate cancer (PCa) and Human papillomavirus (HPV) infection in the Mexican population. We studied 356 paraffin-embedded tissues from unrelated Mexican men with PCa or benign prostatic hyperplasia (BPH), with the latter serving as control. HPV detection was performed by polymerase chain reaction (PCR) using universal primers, and viral genotypes were detected using sequencing or multiplex PCR. Light microscopy analyses enabled the identification of koilocytes in samples subsequently analyzed for HPV detection by in situ PCR and for p16-INK4A expressio...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Lack of association between genetic polymorphisms in IGF1 and IGFBP3 with twin births in a Brazilian population (Cândido Godói, Rio Grande do Sul)
This study aimed to test such possible association, investigating the genetic polymorphisms IGF1 (CA)n and IGFBP3 rs2854744 in the population from Candido Godoi (CG), a small city located in the South of Brazil that has a high prevalence of twin births. A case-control study was performed comprising a total of 39 cases (representing about 40% of the mothers of twins who were born in CG after 1995) and 214 controls (mothers of non-twin children), 97 of whom were living in CG while 117 were living in Porto Alegre. DNA was extracted from blood leucocytes and genotyping was performed. According to the statistical analyses, ther...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Additional value of a combined genetic risk score to standard cardiovascular stratification
In conclusion, GRS provided a better incremental value in intermediate subgroup. In this subgroup, inclusion of genotyping may be considered to better stratify cardiovascular risk. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon
In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*BES) were investigated in an Afro-descendant population from state of Par á, Brazilian Amazon. G6PD variants and Duffy blood group alleles were determined by TaqMan SNP genotyping assay. Overall, molecular genotyping revealed the presence of G6PD variants in 126 (24%) of the individuals studied (5% male and 19% female), and frequencies of the G6PD*A- and G6PD*A alleles w ere 0.061 and 0.104, respectively. Duffy blood group genotyping showed that 24.3% o...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Systematic molecular analysis of hemophilia A patients from Colombia
Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effective strategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1, followed by the analysis of the F8 gene c...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Analysis of apolipoprotein E genetic polymorphism in a large ethnic Hakka population in southern China
Abstract There is currently no data about the genetic variations of APOE in Hakka population in China. The aim of this study was to analyze the allelic and genotypic frequencies of APOE gene polymorphisms in a large ethnic Hakka population in southern China. The APOE genes of 6,907 subjects were genotyped by the gene chip platform. The allele and genotype frequencies were analyzed. Results showed that the ∊ 3 allele had the greatest frequency (0.804) followed by ∊ 2 (0.102), and ∊ 4 (0.094), while genotype ∊ 3/ ∊ 3 accounted for 65.43% followed by ∊ 2/ ∊ 3 (15.85%), ∊ 3/ ∊ 4 (14.13%), ∊ 2/ ∊ 4 (3.01%)...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Effects of polymorphisms in APOB, APOE, HSD11β1, PLIN4, and ADIPOQ genes on lipid profile and anthropometric variables related to obesity in children and adolescents
Abstract Genes can influence lipid profile and anthropometric variables related to obesity. The present study aimed to verify if variants of the APOE, APOB, ADIPOQ, HSD11 β 1, and PLIN4 genes are associated with lipid levels or anthropometric variables in a sample comprised of 393 Euro-Brazilian children and adolescents. DNA was genotyped by TaqMan allelic discrimination assay. The ε 4 and ε 2 alleles of the APOE gene were associated respectively with lower high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) levels (p=0.015 and p=0.012, respectively), while the ε 3 allele was as...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome
Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient ’ s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and ...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Erratum
Abstract The use of Drosophila as a scientific model is well established, but the use of cockroaches as experimental organisms has been increasing, mainly in toxicology research. Nauphoeta cinerea is one of the species that has been studied, and among its advantages is its easy laboratory maintenance. However, a limited amount of genetic data about N. cinerea is available, impeding gene identification and expression analyses, genetic manipulation, and a deeper understanding of its functional biology. Here we describe the N. cinerea fat body and head transcriptome, in order to provide a database of genetic sequences to bett...
Source: Genetics and Molecular Biology - September 17, 2018 Category: Genetics & Stem Cells Source Type: research
Erratum: Identification of microRNA signature in different pediatric brain tumors
Abstract The use of Drosophila as a scientific model is well established, but the use of cockroaches as experimental organisms has been increasing, mainly in toxicology research. Nauphoeta cinerea is one of the species that has been studied, and among its advantages is its easy laboratory maintenance. However, a limited amount of genetic data about N. cinerea is available, impeding gene identification and expression analyses, genetic manipulation, and a deeper understanding of its functional biology. Here we describe the N. cinerea fat body and head transcriptome, in order to provide a database of genetic sequences to bett...
Source: Genetics and Molecular Biology - September 6, 2018 Category: Genetics & Stem Cells Source Type: research
Fritz Müller – Darwin's scientific correspondent in Brazil for 17 years
Abstract The use of Drosophila as a scientific model is well established, but the use of cockroaches as experimental organisms has been increasing, mainly in toxicology research. Nauphoeta cinerea is one of the species that has been studied, and among its advantages is its easy laboratory maintenance. However, a limited amount of genetic data about N. cinerea is available, impeding gene identification and expression analyses, genetic manipulation, and a deeper understanding of its functional biology. Here we describe the N. cinerea fat body and head transcriptome, in order to provide a database of genetic sequences to bett...
Source: Genetics and Molecular Biology - September 6, 2018 Category: Genetics & Stem Cells Source Type: research
De novo transcriptome assembly of the lobster cockroach Nauphoeta cinerea (Blaberidae)
Abstract The use of Drosophila as a scientific model is well established, but the use of cockroaches as experimental organisms has been increasing, mainly in toxicology research. Nauphoeta cinerea is one of the species that has been studied, and among its advantages is its easy laboratory maintenance. However, a limited amount of genetic data about N. cinerea is available, impeding gene identification and expression analyses, genetic manipulation, and a deeper understanding of its functional biology. Here we describe the N. cinerea fat body and head transcriptome, in order to provide a database of genetic sequences to bett...
Source: Genetics and Molecular Biology - September 6, 2018 Category: Genetics & Stem Cells Source Type: research
Phylogenetic relationships among Capuchin (Cebidae, Platyrrhini) lineages: An old event of sympatry explains the current distribution of Cebus and Sapajus
Abstract Capuchin monkeys are currently represented by four species of Cebus and eight of Sapajus. This group is taxonomically complex and several questions still need to be clarified. In the current study, using mtDNA markers and a larger sample representation than in previous studies, we seek to understand the phylogenetic relationships among the capuchin lineages and their historical biogeography. All 12 species of capuchins were analyzed for the mitochondrial Control Region and Cytochrome b to test two biogeographical hypotheses: “ Reinvasion of the Amazon (ROA) ” and “ Sympatric Evolution (SEV) ” . The phylog...
Source: Genetics and Molecular Biology - September 6, 2018 Category: Genetics & Stem Cells Source Type: research
