|
|
|
| Registros recuperados: 2.463 | |
|
| |
|
|
| 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... |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300014 |
| |
|
| |
|
|
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: F-test; Polyploidy; Rice; SSR marker; Stability. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200020 |
| |
|
| |
|
|
| 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. |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100013 |
| |
|
| |
|
|
| 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... |
| Tipo: Info:eu-repo/semantics/article |
|
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400024 |
| |
|
| |
|
|
| 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. |
| Tipo: Info:eu-repo/semantics/article |
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 |
| |
|
| |
|
| |
|
|
| 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... |
| Tipo: Info:eu-repo/semantics/article |
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 |
| |
|
| |
|
|
| 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... |
| Tipo: Info:eu-repo/semantics/article |
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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Glucose-6-phosphate dehydrogenase; Mutations; Polymorphism; Variants. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200007 |
| |
|
| |
|
|
| Torres,Martha; Barrera,Junior. |
| GCLASS is an algorithm which explores small samples of two distinct biological states for finding small sets of genes, which form a feature vector that is enough to separate these two states. A typical sample is a set of 60 microarrays, 30 for each biological state, with several thousand genes. The technique consists of the following: a spreading model defined in the space of small sets of genes studied and centered in each feature vector considered; the designing of optimal linear classifiers under this spreading model; and ranking the designed classifiers, based on their error and robustness relative to the spreading. The feature vectors used in the best classifiers are considered the best feature vectors. Due to the great number of potential feature... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gene expression; Classification; Parallel processing. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400034 |
| |
|
|
| Artigalás,Osvaldo; Paskulin,Giorgio; Riegel,Mariluce; Burin,Maira; Saraiva-Pereira,Maria Luiza; Maluf,Sharbel; Kiss,Andrea; Schwartz,Ida Vanessa D.. |
| 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 pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 22q13 deletion; Apparently balanced translocation; ARSA gene; Arylsulfatase A pseudodeficiency; Metachromatic leukodystrophy. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007 |
| |
|
|
| Hilsdorf,Silva; Oliveira,Claudio; Lima,Flávio César Thadeo de; Matsumoto,Cristianne Kayoko. |
| The genus Brycon, the largest subunit of the Bryconinae, has 42 valid species distributed from southern Mexico to the La Plata River in Argentina. Henochilus is a monotypic genus, comprising a single species (H. wheatlandii) found in the upper Rio Doce basin. In the present study, partial sequences of the mitochondrial gene 16S were obtained for fifteen species of Brycon and for Henochilus wheatlandii. The results showed that the genus Brycon is paraphyletic, since Henochilus is the sister-group of B. ferox and B. insignis. The most basal species analyzed were the trans-Andean species B. henni, B. petrosus, and B. chagrensis. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Phylogeny; Molecular systematics; Mitochondrial DNA; Fish evolution; Systematic. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000200034 |
| |
| Registros recuperados: 2.463 | |
|
|
|
