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Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families Genet. Mol. Biol.
Kokitsu-Nakata,N.M.; Richieri-Costa,A..
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs. Both showed familial recurrence in fourth and third generations, respectively. The other family members also presented blepharophimosis, ptosis, and epicanthus inversus, but without lip and palatal involvement. There were no additional clinical signs nor infertility in these patients. To our knowledge this is the first instance of cleft lip and palate reported as additional signs of the BPES syndrome.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200015
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Sunkifolias and Buxisunkis: Sexually obtained reciprocal hybrids of Citrus sunki x Severinia buxifolia Genet. Mol. Biol.
Medina-Filho,Herculano P.; Bordignon,Rita; Ballvé,Rosa M.L..
The present investigation reports reciprocal hybrids between Citrus sunki, belonging to the "True Citrus" taxonomic group, and Severinia buxifolia of the "Primitive Citrus" group. This represents the first case of sexual hybridization between genera of distinct taxonomic groups of the subtribe Citrinae, which have several complementary agronomic and phytosanitary attributes. Thus, there exists considerable interest in determining the potential of such hybrids as rootstocks, as well as a possible genetic bridge to combine, by breeding at diploid level, nuclear and cytoplasmic genes of Severinia with Citrus and other citrus intergeneric hybrids.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100021
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Soybean seed oil content: genetic control under different photoperiods Genet. Mol. Biol.
Miranda,Zilda F.S.; Arias,Carlos A. Arrabal; Toledo,José Francisco Ferraz de; Oliveira,Marcelo Fernandes de.
The oil content of soybean (Glycine max (L.) Merrill) seeds is a polygenic and complex trait that is responsive to environmental effects that occur during plant development. Our objective was to study the seed oil content of soybeans developed under diverse photoperiod and temperature conditions. Three parental inbred lines with classic (BR-13, FT-2 and BR85-29009) and one with long juvenile flowering type (OCEPAR 8) and the F2, F3, and F9 generations derived from all possible crosses between them (including reciprocals) were sowed in September 27th, October 20th and December 17th in 1993 in Londrina, Paraná State, Brazil (between 23o08'47" and 23o55'46" latitude S). The October and December sowing dates are within the period the varietal research...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300017
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Chromosome damage induced by DNA topoisomerase II inhibitors combined with g-radiation in vitro Genet. Mol. Biol.
Araújo,Maria Cristina P.; Dias,Francisca da Luz; Cecchi,Andréa O.; Antunes,Lusânia M.G.; Takahashi,Catarina S..
Combined radiation and antineoplastic drug treatment have important applications in cancer therapy. In the present work, an evaluation was made of two known topoisomerase II inhibitors, doxorubicin (DXR) and mitoxantrone (MXN), with g-radiation. The effects of DXR or MXN on g-radiation-induced chromosome aberrations in Chinese hamster ovary (CHO) cells were analyzed. Two concentrations of each drug, 0.5 and 1.0 µg/ml DXR, and 0.02 and 0.04 µg/ml MXN, were applied in combination with two doses of g-radiation (20 and 40 cGy). A significant potentiating effect on chromosomal aberrations was observed in CHO cells exposed to 1.0 µg/ml DXR plus 40 cGy. In the other tests, the combination of g-radiation with DXR or MXN gave approximately additive effects. Reduced...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300021
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Study of the length of the mouthparts of Africanized, Caucasian and Africanized/Caucasian honey bee crosses, and relationships between glossa size and food gathering behavior Genet. Mol. Biol.
Pignata,Maria Izabel Barnez; Stort,Antonio Carlos; Malaspina,Osmar.
The lengths of the mouthparts of bees, the glossa, paraglossa, stipes, galea, labial palpus, maxillary palpus, cardo, lorum, mentum and prementum, were studied in Caucasian and Africanized bees and in their F1 descendants. Only the lengths of the paraglossa, stipe, galea, mentum, prementum and maxillary palpus differed significantly between these two bee types. These six variables were studied in the F1 descendants of two types of crosses, i.e., Caucasian queens x Africanized males (cross 1) and Africanized queens x Caucasian males (cross 2). Multidimensional analyses were also performed and the generalized Mahalanobis distances (D2) between the F1 descendants and the parental lines were determined. There was an apparent dominance of Africanized bees in...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400010
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Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation Genet. Mol. Biol.
Sonati,Maria de Fátima; Kaeda,Jaspal; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Luzzatto,Lucio.
We report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C®T polymorphism at codon 2. In combination with the bS gene, this mutation results in very mild sickle cell disease symptoms.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002
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A new method to estimate genetic gain in annual crops Genet. Mol. Biol.
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
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Variation in the electrophoretic karyotype of Brazilian strains of Metarhizium anisopliae Genet. Mol. Biol.
Valadares-Inglis,Maria Cléria; Peberdy,John F..
Pulsed-field gel electrophoresis (PFGE) was used to separate chromosome-sized DNA molecules of four strains of Metarhizium anisopliae from Brazil. Metarhizium anisopliae isolates from Japan have been reported as possessing seven chromosomes. Variation was observed among the Brazilian strains and the chromosomal DNA was resolved into eight bands for strain CG46. Densitometric analysis of PFGE gels suggested that the other three Brazilian strains also possess eight chromosomes, with two chromosomes migrating as doublets under the electrophoretic conditions used. The genome size was estimated as varying between 23.39 to 31.88 Mb, not including possible doublet chromosomes.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100003
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Microphotometrical image analysis of the subtelomeric region of T-banded endoreduplicated chromosomes of Chinese hamster ovary cells Genet. Mol. Biol.
Drets,Máximo E.; Mendizábal,Marcos.
Microphotometrical scanning and computer graphic image analysis were carried out to detect the distribution of chromatin densities in subtelomeric segments of T-banded endoreduplicated chromosomes of Chinese hamster ovary (CHO) cells. Chromatin density patterns detected with this method were similar to those previously found in CHO and normal human chromosomes. The highest chromatin densities were considered as marker segments which led to the detection of reciprocal changes of position in endoreduplicated chromosomes during cell spreading on the slide. The problem of the subtelomeric T-banding density patterns found in the endoreduplicated chromosomes and their relation to the structure and molecular composition of this region is briefly discussed.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200008
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Mutagenic activity of airborne particulate matter from the urban area of Porto Alegre, Brazil Genet. Mol. Biol.
Vargas,Vera Maria Ferrão; Horn,Rubem Cesar; Guidobono,Régis Rolim; Mittelstaedt,Ana Beatriz; Azevedo,Irascema Girardi de.
The mutagenic activity of airborne particulate matter collected from three different sites within the urban area of Porto Alegre, Brazil, was investigated using a Salmonella/microsome assay. Samples were extracted by sonication, sequentially, with cyclohexane (CX), and dichloromethane (DCM), for a rough fractionation by polarity. The different fractions were tested for mutagenicity using Salmonella typhimurium strains TA98, with and without metabolic activation (S9 mix fraction), and TA98NR and TA98/1,8-DNP6, without metabolic activation. Mutagenic response was observed for frameshift strain TA98 in assays with and without metabolization for two sites (sites 2 and 3), which had considerable risk of environmental contamination by nonpolar (CX) and/or...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200013
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Tissue-specific expression of esterases in Triatoma infestans (Triatominae, Heteroptera) Genet. Mol. Biol.
Tavares,Mara Garcia; Azeredo-Oliveira,Maria Tercilia Vilela de; Ceron,Carlos Roberto.
We examined the esterases present in the hemolymph and Malpighian tubules of "Kissing bug", Triatoma infestans (Triatominae, Heteroptera) by polyacrylamide gel electrophoresis. Six esterase bands were observed and were designated EST 1 to EST 6. EST 1, 4, 5 and 6 were exclusive to hemolymph, whereas EST 2 and 3 were found only in Malpighian tubules. Each tissue had a characteristic esterase pattern, which may be related to its functional role. The four hemolymph esterases hydrolyzed a-naphthyl acetate. One of these enzymes was classified as a carboxylesterase (EST 4), and another was an acetylesterase (EST 6). The other two enzymes (EST 1 and 5) could be either carboxylesterases or serino-proteases with an esterolytic function, as they were selectively...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400009
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Growth trends, genotype-environment interaction and genetic gains in six-year-old rubber tree clones (Hevea) in São Paulo State, Brazil Genet. Mol. Biol.
Gonçalves,Paulo de Souza; Bataglia,Ondino Cleante; Santos,Wagner Rodrigues dos; Ortolani,Altino Aldo; Segnini Jr.,Ivo; Shikasho,Edson Hideaki.
Budwood from seven different clones of rubber tree [Hevea brasiliensis (Willd. ex Adr. de Juss.) Müell. Arg.] was planted in replicated trials in four different test sites in the plateau region of the state of São Paulo, Brazil. The clones represented a range of imported germplasm, whereas the locations were selected to represent a range of rubber growing areas. Girths were measured for six years consecutively, before the initiation of tapping for latex. Total number of latex vessel rings (lvr) and bark thickness (bt) were measured at six years. The largest average for all characters was observed in Matão. Overall means for girth, total number of latex vessel rings and bark thickness at six years were 35.26 cm, 11.30 units and 4.83 mm, respectively. Both...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100019
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Programa GENES: Aplicativo Computacional em Estatística Aplicada à Genética (GENES - Software for Experimental Statistics in Genetics) Genet. Mol. Biol.
Cruz,Cosme Damião.
The main purpose of the GENES software is to help people working with genetic analysis and data processing in breeding programs, using several biometrics models. This software has several help windows that are very friendly to the user. More information about this program is available in the book" Programa GENES - Aplicativo Computacional em Genética e Estatística, 442. 1997". Purchase orders are welcome at the following address: editora@mail.ufv.br. Shareware copies of the GENES software are available at http://www.genetica.dbg.ufv.br.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100022
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Meiotic behavior of Adesmia DC. (Leguminosae-Faboideae) species native to Rio Grande do Sul, Brazil Genet. Mol. Biol.
Coelho,Liliana Gressler May; Battistin,Alice.
Meiotic behavior in Adesmia DC. is described for the first time. The study encompassed twelve populations of seven Adesmia DC. species native to Rio Grande do Sul, Brazil. Populations with 2n = 2x = 20 are A. securigerifolia 9615, A. riograndensis 9590 (subnudae), A. latifolia 1568, 1775, 15025, A. bicolor JB-UFSM, A. incana var. incana 9636, 10288, A. punctata var. hilariana 6885, 10812, and A. tristis 10757. A. incana var. incana 9637 is a tetraploid with 2n = 4x = 40. The material was stained with 1% acetic orcein. The meiotic behavior of the populations studied was considered normal. The meiotic index (MI) and the estimates of pollen grain viability were above 95%, except for A. latifolia 1568 (MI = 89%). The present data indicate that these plants are...
Tipo: Info:eu-repo/semantics/other
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300020
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Aggregation tendency in small groups of Drosophila melanogaster Genet. Mol. Biol.
del Solar Osses,Eduardo.
A study was made of the spatial pattern of the progeny produced in boxes with 25 oviposition tubes, by groups of six Drosophila melanogaster females during 24, 72 and 216 h. Each female was fertilized by a male carrier of a dominant mutation in such a manner that the behavior of each female of the group as well as that of each group could be determined by a study of their progeny. The pattern of spatial distribution of the progeny was aggregated, reaching its highest value at 72 h. Gregarious behavior of individuals was defined by the number of sites among which they disseminated their progeny in a 24 h-cycle; while for groups it was estimated by the variance/mean ratio. The fertility, egg-adult development time and mortality rate were recorded....
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100006
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Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil Genet. Mol. Biol.
Santos,Cláudia Maria Carvalho dos; Correia,Patrícia Santana; Rosa,Antônio Abílio Santa; Vaniazzi,Elde; Coelho,Janice Carneiro; Burin,Maira Graeff; Giugliani,Roberto; Fensom,Anthony H.; Oliveira,Cesário Paulo Honório de; Oliveira,Maria Lúcia Costa de; Llerena Jr.,Juan Clinton.
We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400005
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Physical map and one-megabase sequencing of the human immunoglobulin lambda locus Genet. Mol. Biol.
Passos Jr.,Geraldo A.S..
The human immunoglobulin lambda (IGL) locus is located on chromosome 22q11.1-q11.2 and contains the genes responsible for the immunoglobulin lambda light chains. This locus was recently mapped (physical map) and its 1-Mb DNA totally sequenced. In this review we focus on the characterization of the v-lambda genes, its chromosomal location, genomics and sequencing of the IGL locus.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200019
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Heterochromatin heterogeneity and chromosome heteromorphism in Cerdocyon thous (Mammalia, Canidae) Genet. Mol. Biol.
Hatanaka,Terumi; Tambasco,Antonio Junqueira; Galetti Junior,Pedro Manoel.
Few cytogenetic studies have been conducted on South American canids. Cerdocyon thous is a representative of the Canidae, living in the forests, open wooded areas and savannahs of South America. Compared to other canid species, C. thous has a large proportion of metacentric and submetacentric chromosomes as well as a large amount of constitutive heterochromatin, especially along the short arm of submetacentric chromosomes. In the present study, different chromosome banding methods were used to characterize the heterogeneous nature of the large heterochromatic segments and to propose an organizational model for this segment that occupies the entire short arm of most two-armed chromosomes. Furthermore, chromosome heteromorphism related to the short arm of...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200009
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Leuciscus (Pisces, Cyprinidae) karyotypes: Transect of Portuguese populations Genet. Mol. Biol.
Collares-Pereira,Maria João; Próspero,M.I.; Biléu,R.I.; Rodrigues,E.M..
The presently described Iberian chubs - Leuciscus carolitertii and L. pyrenaicus - sampled throughout their distribution ranges in Portugal were cytogenetically analyzed. Their chromosome numbers were consistently 2n = 50, except for two specimens of L. carolitertii, which exhibited a supernumerary chromosome in some of the metaphases. The karyotypes were found to be highly typical for other Leuciscus taxa, as well as for European leuciscine cyprinids: the chromosome sets are dominated by metacentric and submetacentric elements with a reduced number of acrocentric pairs (three to four); the largest pair of the complements belongs typically to this latter category. The chubs from northern drainages, assignable to L. carolitertii, have apparently a more...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100011
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A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses Genet. Mol. Biol.
Leistner,Sandra; Giugliani,Roberto.
Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a reference center for LSD diagnosis in Brazil. Therefore, we decided to set up a specific laboratory routine for detection and differential diagnosis of MPS in patients...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028
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