Abstract:
:Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. 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 Pará, 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 were 0.061 and 0.104, respectively. Duffy blood group genotyping showed that 24.3% of people were Duffy-negative and 41.3% were heterozygous for FY*BES. The frequency of allele FY*BES was 41.0%. The results emphasize the need to monitor G6PD deficiency for the use of primaquine in the routine care of the Afro-descendant communities of the Trombetas, Erepecuru and Cumná rivers, evaluating the risks of hemolytic crisis in case of recurrence of malaria in the region. In addition, the possible greater protection against malaria conferred by these erythrocyte polymorphisms deserves to be better investigated and explored among these Afro-descendants.
journal_name
Genet Mol Bioljournal_title
Genetics and molecular biologyauthors
Oliveira HSS,Silva ANLMD,Andrade GB,Gaia KC,Costa GLC,Santos ÂKCRD,Guerreiro JFdoi
10.1590/1678-4685-GMB-2017-0253subject
Has Abstractpub_date
2018-10-01 00:00:00pages
758-765issue
4eissn
1415-4757issn
1678-4685pii
S1415-47572018005021102journal_volume
41pub_type
杂志文章abstract::A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudode...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572012000300007
更新日期:2012-04-01 00:00:00
abstract::Phenotypic plasticity is a hallmark of the caste systems of social insects, expressed in their life history and morphological traits. These are best studied in bees. In their co-evolution with angiosperm plants, the females of corbiculate bees have acquired a specialized structure on their hind legs for collecting pol...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-475738320140393
更新日期:2015-07-01 00:00:00
abstract::The allelic frequencies of 12 short tandem repeat loci were obtained from a sample of 307 unrelated individuals living in Macapá, a city in the northern Amazon region, Brazil. These loci are the most commonly used in forensics and paternity testing. Based on the allele frequency obtained for the population of Macapá, ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572011000100007
更新日期:2011-01-01 00:00:00
abstract::Oral Lichen Planus (OLP) is an oral inflammatory condition, mediated by host immune system reaction, presenting basal membrane damages with inflammatory lesions in the mouth and/or skin. In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of th...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2018-0015
更新日期:2019-01-01 00:00:00
abstract::Seven polymorphic microsatellite loci were isolated and characterized for the snakehead murrel, Channa striata (Channidae), a valuable tropical freshwater fish species. Among 25 specimens collected from Kedah state in Malaysia, the number of alleles per locus ranged from 2 to 7. Observed and expected heterozygosities ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:
更新日期:2011-04-01 00:00:00
abstract::Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been karyotyped. Cytogenetic analyses performed on Genidens barbus and Sciades herzbergii revealed that both species have 2n ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572010005000038
更新日期:2010-04-01 00:00:00
abstract::The functional role of IGFBP5 in breast cancer is complicated. Experimental and bioinformatics studies have shown that IGFBP5 is targeted by miR-140-5p and miR-193b, although this has not yet been proven in clinical samples. The aim of this study was to evaluate the expression of miR-140-5p and miR-193b in breast canc...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-475738120140167
更新日期:2015-03-01 00:00:00
abstract::Autochthonous pig breeds represent an important genetic reserve to be utilized mainly for the production of typical products. To explore its genetic variability, here we present for the first time whole genome sequencing data and SNPs discovered in a male domestic Nero Siciliano pig compared to the last pig reference ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2018-0169
更新日期:2019-07-01 00:00:00
abstract::Catalase (CAT) is a common antioxidant enzyme in almost all living organisms. Currently, detailed reports on cucumber (Cucumis sativus L.) CAT (CsCAT) genes and tissue expression profiling are limited. In the present study, four candidate CsCAT genes were identified in cucumber. Phylogenetic analysis indicated that Cs...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2015-0192
更新日期:2016-07-01 00:00:00
abstract::More than 90% of birds are socially monogamous, although genetic studies indicate that many are often not sexually monogamous. In the present study, DNA fingerprinting was used to estimate the genetic relationships between nestlings belonging to the same broods to evaluate the mating system in the socially monogamous ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572010005000112
更新日期:2011-01-01 00:00:00
abstract::We determined the polymorphism C242T of the aromatase gene (Cyp19) and its allelic frequency, as well as the effect of the variants on productive and reproductive traits in 71 purebred Santa Inês sheep, 13 purebred Brazilian Somali sheep, nine purebred Poll Dorset sheep, and 18 crossbred 1/2 Dorper sheep. The animals ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572009005000054
更新日期:2009-07-01 00:00:00
abstract::In this work we describe the establishment of mesenchymal stem cells (MSCs) derived from embryonic stem cells (ESCs) and the role of bFGF in adipocyte differentiation. The totipotency of ESCs and MSCs was assessed by immunofluorescence staining and RT-PCR of totipotency factors. MSCs were successfully used to induce o...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/s1415-47572014000100019
更新日期:2014-03-01 00:00:00
abstract::The arylamine N-acetyltransferase 2 (NAT2) enzymes detoxify a wide range of naturally occurring xenobiotics including carcinogens and drugs. Point mutations in the NAT2 gene result in the variant alleles M1 (NAT2 *5A), M2 (NAT2*6A), M3 (NAT2*7) and M4 (NAT2 *14A) from the wild-type WT (NAT2 *4) allele. The current stu...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572012005000074
更新日期:2012-12-01 00:00:00
abstract::Splicing, the process that catalyzes intron removal and flanking exon ligation, can occur in different ways (alternative splicing) in immature RNAs transcribed from a single gene. In order to adapt to a particular context, cells modulate not only the quantity but also the quality (alternative isoforms) of their transc...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2019-0111
更新日期:2020-03-27 00:00:00
abstract::This review summarizes the chromosomal changes detected by molecular cytogenetic approaches in esophageal squamous cell carcinoma (ESCC), the ninth most common malignancy in the world. Whole genome analyses of ESCC cell lines and tumors indicated that the most frequent genomic gains occurred at 1, 2q, 3q, 5p, 6p, 7, 8...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572010005000028
更新日期:2010-04-01 00:00:00
abstract::Xylella fastidiosa genome sequencing has generated valuable data by identifying genes acting either on metabolic pathways or in associated pathogenicity and virulence. Based on available information on these genes, new strategies for studying their expression patterns, such as microarray technology, were employed. A t...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572009005000038
更新日期:2009-04-01 00:00:00
abstract::This study evaluated the diversity of cultivable plant growth-promoting (PGP) bacteria associated with apple trees cultivated under different crop management systems and their antagonistic ability against Colletotrichum gloeosporioides. Samples of roots and rhizospheric soil from apple trees cultivated in organic and ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/s1415-47572014000400013
更新日期:2014-09-01 00:00:00
abstract::The loss of soybean yield to Brazilian producers because of a water deficit in the 2011-2012 season was 12.9%. To reduce such losses, molecular biology techniques, including plant transformation, can be used to insert genes of interest into conventional soybean cultivars to produce lines that are more tolerant to drou...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572013000400015
更新日期:2013-12-01 00:00:00
abstract::Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between March 1s...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2018-0186
更新日期:2020-02-10 00:00:00
abstract::Topoisomerase II inhibitors are effective chemotherapeutic agents in the treatment of cancer, in spite of being associated with the development of secondary leukemia. Our purpose was to determine the effects of etoposide on different genomic regions, aiming at discovering whether there are preferential sites which can...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572009000100022
更新日期:2009-01-01 00:00:00
abstract::Treatment of moderate and severe forms of osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI Treatment in Southern Brazil was studied. A retrospective cohort study was conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) and outpatient care. Clinical data, i...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2018-0097
更新日期:2019-01-01 00:00:00
abstract::Tsetse flies are responsible for the transmission of Trypanossoma sp. to vertebrate animals in Africa causing huge health issues and economic loss. The availability of the genome sequence of Glossina morsitans enabled the discovery of several genes related to medically important phenotypes and novel physiological feat...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2018-0311
更新日期:2020-06-10 00:00:00
abstract::Breast cancer (BC) is the most prevalent type worldwide, besides being one of the most common causes of death among women. It has been suggested that sporadic BC is most likely caused by low-penetrance genes, including those involved in DNA repair mechanisms. Furthermore, the accumulation of DNA damage may contribute ...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572010005000082
更新日期:2010-10-01 00:00:00
abstract::Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical m...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2014-0346
更新日期:2016-05-13 00:00:00
abstract::Several phylogeographic studies of seabirds have documented low genetic diversity that has been attributed to bottleneck events or individual capacity for dispersal. Few studies have been done in seabirds on the Brazilian coast and all have shown low genetic differentiation on a wide geographic scale. The Kelp Gull is...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572012005000065
更新日期:2012-12-01 00:00:00
abstract::Tissue samples from mosquitoes artificially infected with Zika virus and shown to be positive by RT-qPCR were reexamined by RT-PCR. Using these samples we compared the two methods employed in virus RNA detection for vector competence studies. Results demonstrated that, albeit useful, RT-PCR gave false negatives with l...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2016-0312
更新日期:2017-07-01 00:00:00
abstract::The purpose of this study was to investigate whether treatment with electroacupuncture (EA) inhibited mitochondria-dependent apoptosis in annulus fibrosis (AF) cells in a rat model of cervical intervertebral disc degradation induced by unbalanced dynamic and static forces. Forty Sprague-Dawley rats were used in this s...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/S1415-47572012005000046
更新日期:2012-07-01 00:00:00
abstract::The aim of the present study was to investigate the association between HPV-DNA and micronucleus (MN) frequency in women with normal cervical cytology. A total of 158 normal cervical smears were analyzed cytologically. The HPV genome was amplified using the GP5+/bioGP6+ consensus primers. HPV-DNA of high-risk types 16...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/s1415-47572014005000010
更新日期:2014-06-01 00:00:00
abstract::Oryza sativa, the common cultivated rice, is one of the most important crops for human consumption, but production is increasingly threatened by abiotic stresses. Although many efforts have resulted in breeding rice cultivars that are relatively tolerant to their local environments, climate changes and population incr...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/1678-4685-GMB-2016-0093
更新日期:2017-01-01 00:00:00
abstract::In the present study, water buffalo MHC (Bubu)-DRB cDNA was cloned and characterized. The 1022 base long-amplified cDNA product encompassed a single open reading frame of 801 bases that coded for 266 amino acids. The Bubu-DRB sequence showed maximum homology with the BoLA-DRB3*0101 allele of cattle. A total of seven a...
journal_title:Genetics and molecular biology
pub_type: 杂志文章
doi:10.1590/s1415-47572012005000013
更新日期:2012-01-01 00:00:00