SABIIA - Sistema Aberto e Integrado de Informação em Agricultura (Sabiia)

Waldschmidt,Ana M.; Barros,Everaldo G. de; Campos,Lucio A.O..

The stingless bee species Melipona quadrifasciata includes two subspecies, Melipona quadrifasciata anthidioids and Melipona quadrifasciata quadrifasciata. The morphological difference between the two subspecies is the presence of three to five continuous yellow stripes on the terga on the 3rd to 6th segments in workers and males of M. q. quadrifasciata, and two to five interrupted bands in M. q. anthidioides. We identified a DNA marker which is present in M. q. quadrifasciata and absent in M. q. anthidioides. Only one among the M. q. quadrifasciata colonies did not present the marker. It was also absent in bees collected in northern Minas Gerais State (Brazil), despite their morphological resemblance to M. q. quadrifasciata. The marker can be used for...

A molecular method for the detection of sally lightfoot crab larvae (Grapsus grapsus, Brachyura, Grapsidae) in plankton samples

Ano: 2000

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300019

Ströher,Patrícia R.; Firkowski,Carina R.; Freire,Andrea S.; Pie,Marcio R..

The decapod Grapsus grapsus is commonly found on oceanic islands of the Pacific and Atlantic coasts of the Americas. In this study, a simple, quick and reliable method for detecting its larvae in plankton samples is described, which makes it ideal for large-scale studies of larval dispersal patterns in the species.

A multivariate approach to explore the genetic variability in the F2 segregating population of a tomato second cycle hybrid

Palavras-chave: Dispersal; Aratu; Sayapa; Molecular marker.

Ano: 2011

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300026

JBAG

Cabodevila,V.G; Picardi,L.A; Pratta,G.R.

Segregating progeny from the tomato Second Cycle Hybrids (SCH) that were obtained from crossing RIL (Recombinant Inbred Lines) allows the detection of new genetic combinations that could increase genetic variability in F2 populations. The objectives of the present study were to evaluate eleven tomato quality traits in a segregating F2 population obtained from a SCH and, then, to characterize the molecular diversity by six AFLP (Amplified Fragment Length Polymorphism) primer combinations. Different multivariate analyses were used to assess the degree of concordance among these two approaches to detect genetic variability. Sixty-nine F2 plants were obtained by selfing the SCH (ToUNR18xToUNR1). The parental RIL were derived from an interspecific cross between...

URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332017000100001

Palavras-chave: Plant breeding; Plant genetic resources; Fruit quality; AFLP; Multivariate analysis.

Ano: 2017

A multivariate approach to the association pattern of reciprocal translocations induced by chemicals and ionizing radiation in mouse germ cells

De Luca,J.C.; Ortiz Jaureguizar,E.; Dulout,F.N..

The degree of similarity between chemical and physical agents in their capacity to induce reciprocal translocations was analyzed by means of multivariate analysis techniques. The effect of three different doses of gamma rays, four doses of X-rays and different doses of adriamycin, mitomycin C, thio-tepa and bleomycin was analyzed. Data were arranged in a basic matrix by two methods: cluster analysis and ordination. Two main groups were found, one including doses of 9 and 10 Gy and the other including the remaining lower doses of ionizing radiation and the other chemicals. Various subgroups were found within the second group. Accordingly, using presence/absence data there was not a specific pattern of chromosomal damage induction for physical and chemical...

A never-ending story: the steadily growing family of the FA and FA-like genes

Ano: 2000

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300014

Gueiderikh,Anna; Rosselli,Filippo; Neto,Januario B.C..

Abstract Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016.

A new allele of peptidase-B in cattle

Palavras-chave: DNA repair; Leukemia; Fanconi anemia; Chromosomal abnormalities.

Ano: 2017

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300398

Braz. J. Genet.

Electrophoretic analyses of peptidase-B were carried out on red cell hemolysates from Holstein, Mantiqueira and Gyr cattle, using cornstarch, known in Brazil as Penetrose-30. We describe a new peptidase-B allele, denoted Pep-B1, in Mantiqueira cattle, belonging to the Bos taurus group, which are the result of a cross of native cattle of Portuguese origin introduced in Brazil during colonial times (16th century) with Holstein and Caracu cattle. The genetic control of peptidase-B was determined by typing parents and progeny segregating for all three alleles, confirming that peptidase B is controlled by a single autosomal locus with three codominant alleles, denoted Pep-B1, Pep-B2 and Pep-B3 The use of the citrate-phosphate buffer system, at pH 5.9, on 14%...

A new approach for obtaining rapid uniformity in rice (Oryza sativa L.) via a 3x x 2x cross

Ano: 1997

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000100002

Xing,Shaochen; Cai,Yuhong; Zhou,Kaida.

A triploid (2n = 3x = 36) rice plant was obtained by screening a twin seedling population in which each seed germinated to two or three sprouts that were then crossed with diploid plants. One diploid plant was chosen among the various F1 progenies and developed into an F2 population via self-pollination. Compared with the control variety Shanyou 63, this F2 population had a stable agronomical performance in field trials, as confirmed by the F-test. The stability of the F2 population was further substantiated by molecular analysis with simple sequence repeat markers. Specifically, of 160 markers assayed, 37 (covering all 12 chromosomes) were polymorphic between the parental lines. Testing the F1 hybrid individually with these markers showed that each PCR...

A new concept of relatedness and its significance to the theory of social evolution

Palavras-chave: F-test; Polyploidy; Rice; SSR marker; Stability.

Ano: 2010

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200020

Drummond,M.S..

Data on primitively social groups of Hymenoptera have been somewhat contradictory with respect to kin recognition, degree of relatedness and social evolution. This study presents a new concept of "relatedness coefficient". Called "aggregated relatedness", the hypothesis here introduced proposes that genes shared by any two individuals affect formation of family units to an extent dependent on their frequency and manner of dispersion in neighboring populations.

A new karyotype for the genus Cavia from a southern island of Brazil (Rodentia - Caviidae)

Ano: 2000

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000100008

Gava,A.; Freitas,T.R.O.; Olimpio,J..

Intraspecific karyotype variation in mammal species is very common and often caused by centromeric fusion of acrocentric chromosomes. We describe here a new karyotype 2n = 62 (FN = 112) for the genus Cavia from the Moleques do Sul Islands, of the southern coast of Brazil. We analyzed two male and four female karyotypes that had twenty-four biarmed pairs and six pairs of acrocentric chromosomes. The sexual pair consisted of a metacentric X-chromosome and a large acrocentric Y. C-bands were found in the centromeric and pericentromeric regions of almost all chromosomes, except for some small biarmed and acrocentric ones. Nucleolus organizer regions appeared in two biarmed chromosomes, and G-banding patterns were also seen.

A new member of the chalcone synthase (CHS) family in sugarcane

Ano: 1998

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100013

Contessotto,Miriam G.G.; Monteiro-Vitorello,Claudia B.; Mariani,Pilar D.S.C.; Coutinho,Luiz L..

Sequences from the sugarcane expressed sequence tag (SUCEST) database were analyzed based on their identities to genes encoding chalcone-synthase-like enzymes. The sorghum (Sorghum bicolor) chalcone-synthase (CHS, EC 2.3.1.74) protein sequence (gi|12229613) was used to search the SUCEST database for clusters of sequencing reads that were most similar to chalcone synthase. We found 121 reads with homology to sorghum chalcone synthase, which we were then able to sort into 14 clusters which themselves were divided into two groups (group 1 and group 2) based on the similarity of their deduced amino acid sequences. Clusters in group 1 were more similar to the sorghum enzyme than those in group 2, having the consensus sequence of the active site of chalcone and...

A new method to estimate genetic gain in annual crops

Ano: 2001

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572001000100034

Breseghello,Flávio; Morais,Orlando Peixoto de; Rangel,Paulo Hideo Nakano.

The genetic gain obtained by breeding programs to improve quantitative traits may be estimated by using data from regional trials. A new statistical method for this estimate is proposed and includes four steps: a) joint analysis of regional trial data using a generalized linear model to obtain adjusted genotype means and covariance matrix of these means for the whole studied period; b) calculation of the arithmetic mean of the adjusted genotype means, exclusively for the group of genotypes evaluated each year; c) direct year comparison of the arithmetic means calculated, and d) estimation of mean genetic gain by regression. Using the generalized least squares method, a weighted estimate of mean genetic gain during the period is calculated. This method...

A note on the population genetic consequences of delayed larval development in insects

Ano: 1998

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400024

Salles,Marcos Mattoso de; Otto,Paulo A..

Observations by Dobzhansky's group in the 1940s suggesting that the presence of recessive genotypes could account for lower larval developmental rates in Drosophila melanogaster were not confirmed at the time and all subsequent investigations on this subject focused on the analysis of ecological models based on competition among pre-adult individuals. However, a paper published in this journal in 1991 eventually confirmed the finding made by Dobzhansky and his co-workers. In this report, we provide a theoretical analysis of the population genetic effects of a delay in the rate of larval development produced by such a genetic mechanism.

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Palavras-chave: Difference and differential equations; Drosophila; Dynamic systems; Larval development; Population genetics.

Ano: 2013

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300019

Ribeiro,Georgina Severo; Marchiori,Paulo Eurípedes; Hirata,Mário Hiroyuki; Rebecchi,Ivanise; Ozaki,Adriana Natsue; Nagai,Maria Aparecida; Santos,Mariana Lopes dos; Oliveira,Raimundo Antonio Gomes; Barretto,Orlando Cesar de Oliveira.

Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

Palavras-chave: Acute intermittent porphyria; Hydroxymethylbilane synthase; Porphobilinogen deaminase; HMBS gene.

Ano: 2007

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003

Alves,Leandro Ucela; Pardono,Eliete; Otto,Paulo A.; Mingroni Netto,Regina Célia.

Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, determined by a novel mutation c.1037C > G (p.Ala346Gly). The disorder in this family exhibits a broad spectrum of phenotypes: two individuals were personally examined, one presenting the complete constellation of EEC syndrome manifestations and the other presenting an intermediate phenotype; the third affected, a deceased individual not examined personally and...

Tipo: Info:eu-repo/semantics/report

Palavras-chave: EEC syndrome; TP63-mutations; P63-associated disorders; SHFM.

Ano: 2015

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100037

A novel c.197T ® A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

Moura Neto,José Pereira de; Dourado,Marcos Vinícius; Reis,Mitermayer Galvão dos; Gonçalves,Marilda Souza.

Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49) deficiency is the most common enzyme deficiency worldwide, causing a spectrum of diseases including neonatal hyperbilirubinemia and acute or chronic hemolysis. We used the methemoglobin reduction test and G6PD electrophoresis to screen 655 neonates (354 females and 301 males) for common G6PD mutations in the city of Salvador in the Northeastern Brazilian state Bahia and found that 66 (10.1%) were G6PD-deficient (41 females and 25 males). The 66 (10.1%) G6PD-deficient neonates were assessed for the c.376 A -> G (exon 5) and c.202 G -> A (exon 4) mutations using the polymerase chain reaction and restriction enzyme fragment length polymorphism (PCR-RFLP) analysis and the results validated by DNA...

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

Palavras-chave: Glucose-6-phosphate dehydrogenase deficiency; G6PD mutations; Neonatal screening.

Ano: 2008

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100006

Tongkobpetch,Siraprapa; Limpaphayom,Noppachart; Sangsin,Apiruk; Porntaveetus,Thantrira; Suphapeetiporn,Kanya; Shotelersuk,Vorasuk.

Abstract Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI. Instead, we identified a COL1A1 frameshift mutation, c.1290delG (p.Gly431Valfs*110) in heterozygosis. By Sanger sequencing, the mutation was confirmed in the...

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Palavras-chave: Osteogenesis imperfect; COL1A1; Exome sequencing; Next generation sequencing; Thai.

Ano: 2017

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500763

Rabionet,Raquel; Morales-Peralta,Estela; López-Bigas,Núria; Arbonés,Maria Lourdes; Estivill,Xavier.

Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness.

A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia

Palavras-chave: Connexin 26; GJB2; DFNA3; Hearing impairment.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300006

Shotelersuk,Vorasuk; Jaruratanasirikul,Somchit; Sinthuwiwat,Thivaratana; Janjindamai,Waricha.

Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X...

A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil

Palavras-chave: SOX9; Campomelic dysplasia; Mutation.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007

Oliveira,Raimundo Antonio G.; Oshiro,Marilena; Hirata,Mario H.; Hirata,Rosario D.C.; Ribeiro,Georgina S.; Medeiros,Tereza M.D.; Barretto,Orlando C. de O..

In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD) activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate) in dengue prevention programs in 27 cities in São Paulo State, Brazil. Twenty-one unrelated male children suspected of having erythroenzymopathy who were attended at hospitals in São Paulo city were also studied. Fifteen of the 373 adults and 12 of the 21 children were G6PD deficient. G6PD gene mutations were investigated in these G6PD-deficient individuals by using PCR-RFLP, PCR-SSCP analysis and DNA sequencing. Twelve G6PD A-202A/376G and two G6PD Seattle844C, as well as a new variant identified as G6PD São Paulo, were detected...

A novel statistical method for assessing SSR variation in autotetraploid alfalfa (Medicago sativa L.)

Palavras-chave: Glucose-6-phosphate dehydrogenase; Mutations; Polymorphism; Variants.

Ano: 2009

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200007

Liu,Zhi-Peng; Liu,Gong-She; Yang,Qing-Chuan.

The level of variation of simple sequence repeat (SSR) markers in cultivated alfalfa from American, Australian and Chinese sources was evaluated using a novel autotetraploid statistical method to calculate the effective number of alleles, the allele frequencies and heterozygosity. We used 19 SSR primers to screen seven polymorphic SSR loci in 320 plants from eight populations. The genetic distance and phylogenetic analysis (DISPAN) program was used to calculate the inter- and intra-population genetic relationships using the conventional binary absence/presence (0/1) method and our novel autotetraploid method. The autotetraploid method resulted in significantly higher heterozygosity (p < 0.01), average effective number (p < 0.01) and lower standard...