RESUMO
BACKGROUND: The goal of the presented studies as a retrospective reliability assessment of classical banding cytogenetic studies and of prognosing epicrises in a group of 14 cases, affected with additional marker chromosomes. MATERIAL AND METHODS: Having collected the study material from peripheral blood, by means of trophoblast biopsy or amniocentesis, cytogenetic preparations were obtained, allowing for pre- or postnatal evaluation of the karyotype. A panel of auxiliary cytogenetic techniques accompanied the routine CTG protocol. RESULTS: In a group of 6875 persons with recommendations to pre- or postnatal cytogenetic diagnostics, 14 (0.2%) cases of ESACs were diagnosed. In 5 cases of DA/DAPI(+) inv dup (15) as observed. A presence of polymorphic interstitial RHG(+) band was found within the marker chromosome. The measured size of that band allowed associating it with either the presence or the absence of pathological signs. In 9 cases of ESACs, DA/DAPI(-), the application of banding techniques (NOR and CBG) allowed to discover bisatellite heterochromatic ESACs in 6 cases (2 non-mosaic and 4 mosaic). In three other mosaic and non-satellite cases of ESACs, a 'genetic inactivity' of the marker chromosome was observed in one case, while a 'genetic activity' was ascertained in two cases. The 'activity' of marker chromosomes was studied by means of replication banding techniques. CONCLUSIONS: At the time of the outburst of molecular techniques, still up-to-date is the use of classical banding techniques and of the replication techniques, allowing DNA replication kinetics studies at the level of single band.
Assuntos
Aberrações Cromossômicas , Citogenética/métodos , Marcadores Genéticos , Adolescente , Adulto , Bandeamento Cromossômico , Feminino , Humanos , Indóis/farmacologia , Lactente , Recém-Nascido , Mães , Diagnóstico Pré-NatalRESUMO
BACKGROUND: The goal of the study was a search for effective methods of diagnosing additional marker chromosomes. MATERIAL AND METHODS: Three cases of extra structurally abnormal chromosomes (ESACs) were diagnosed, the ESACs having been derived from chromosome 15 by cytogenetic techniques, the fluorescence in situ hybridisation (FISH) technique and the quantitative--polymerase chain reaction (Q-PCR). An application of a set of commercially available probes, specific for the 15q11.2-q12 regions (PWACR-Prader-Willi/Angelman Critical Region) allowed for a description of the breaking points. RESULTS: The presence of PWACR region was confirmed in one case and excluded in the other two. It was also attempted to apply the Q-PCR technique for a more accurate determination of the size of the region involved in chromosomal aberration, what would allow for a more reliable prognosing of the clinical outcome. In one of the patients, the breaking point was localized as distal to D15S144 locus, while it was proximal to D15S11 locus in the two remaining cases. CONCLUSIONS: The obtained results demonstrate a possibility of using the Q-PCR method in diagnosing unbalanced chromosome aberrations.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Feto/anormalidades , Técnicas Genéticas , Hibridização in Situ Fluorescente/métodos , Reação em Cadeia da Polimerase/métodos , Adulto , Inversão Cromossômica , Deficiências do Desenvolvimento/genética , Feminino , Duplicação Gênica , Marcadores Genéticos , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Modelos Genéticos , Fenótipo , Diagnóstico Pré-NatalRESUMO
Karyotype analysis, performed on the basis of chromosome banding pattern, is a standard method used for identification of chromosomal aberrations, both numerical and structural. The application of classic cytogenetic techniques fails, however, to solve all diagnostic problems in certain types of chromosome aberrations. In this study, quantitative polymerase chain reaction technique (Q-PCR) application was applied to verify a cytogenetic diagnosis, which assumed that a difference observed in the banding pattern of homologous chromosome 6q12-13 region of a foetus had resulted from an inversion and/or duplication of the region in question. The obtained results indicate a possibility to use the Q-PCR method in the diagnostics of unbalanced chromosomal aberrations.
Assuntos
Proteínas de Ligação a DNA/genética , Transtornos do Desenvolvimento Sexual/genética , Proteínas Nucleares , Proteínas de Ligação a RNA/genética , Espermatozoides/patologia , Fatores de Transcrição , Translocação Genética/genética , Cromossomo X/genética , Cromossomo Y/genética , Adulto , Southern Blotting , Proteínas de Ciclo Celular , Bandeamento Cromossômico , Quebra Cromossômica/genética , Deleção Cromossômica , Coloração Cromossômica , Mecanismo Genético de Compensação de Dose , Pai , Dosagem de Genes , Humanos , Cariotipagem , Linfócitos , Masculino , Pessoa de Meia-Idade , Mosaicismo/genética , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Proteína da Região Y Determinante do Sexo , Contagem de Espermatozoides , Motilidade dos EspermatozoidesRESUMO
In the haemolymph of Oniscidea haemocyanin exists mainly in the form of hexamer 16S (90%); the 5S and 24S components are present in small amounts. Alkaline dissociation of the examined 16S haemocyanins is dependent on pH and divalent cations (Ca2+,Mg2+). The 16S component consists of 23-24.5% acidic amino acids, 15-18% basic amino acids and small quantities of tryptophan and cysteine.
Assuntos
Artrópodes/metabolismo , Hemocianinas/química , Aminoácidos/análise , Animais , Peso Molecular , Espectrofotometria , Espectrofotometria UltravioletaRESUMO
Different amounts of haemolymph proteins participate in clot formation in Astacus leptodactylus and Orconectes limosus (20% and 10%, respectively), although in both species the content of proteins in haemolymph is similar. In both species the content of total phosphorus in the clot was similar (0.33-0.49%, w/w) but it was about 6 times lower in serum of O. limosus than in serum of A. leptodactylus (2.2 and 14.8 mg/100 ml, respectively). An even greater difference in phosphorus content was found in the protein precipitated from serum. In both species lipid phosphorus was predominant (77% of total haemolymph phosphorus in A. leptodactylus and 52% in O. limosus). Phospholipids were found mainly in serum. Only traces of phosphorus (0.005%) and small amounts of fatty acids were found in purified haemocyanin preparations.
Assuntos
Astacoidea/metabolismo , Hemocianinas/análise , Hemolinfa/análise , Fósforo/sangue , Animais , Coagulação Sanguínea , Especificidade da EspécieRESUMO
External adenine compounds bring about changes in the transport of hydrophilic molecules across control and irradiated bovine erythrocyte membranes. Changes in the transport induced by incubation of erythrocytes with nucleotides depend on the type of nucleotide and its concentration. The range of nucleotide concentrations over which the stimulatory effect on the transport occurs is established.
Assuntos
Nucleotídeos de Adenina/farmacologia , Óxidos N-Cíclicos/metabolismo , Membrana Eritrocítica/metabolismo , Adenosina/farmacologia , Difosfato de Adenosina/farmacologia , Monofosfato de Adenosina/farmacologia , Trifosfato de Adenosina/farmacologia , Animais , Transporte Biológico/efeitos dos fármacos , Transporte Biológico/efeitos da radiação , Bovinos , Radioisótopos de Cobalto , AMP Cíclico/farmacologia , Membrana Eritrocítica/efeitos dos fármacos , Membrana Eritrocítica/efeitos da radiação , Raios gama , Marcadores de SpinAssuntos
Eritrócitos/efeitos da radiação , Oxigênio , Adenosina Trifosfatases/metabolismo , Animais , ATPase de Ca(2+) e Mg(2+) , Metabolismo Energético/efeitos da radiação , Membrana Eritrocítica/enzimologia , Eritrócitos/efeitos dos fármacos , Radicais Livres , Raios gama , Hemólise , Técnicas In Vitro , Protetores contra Radiação/farmacologia , ATPase Trocadora de Sódio-Potássio/metabolismo , Superóxido Dismutase , Suínos , Água/efeitos da radiaçãoRESUMO
Gamma radiation causes a decrease in the osmotic fragility of porcine erythrocytes and induces peroxidation of membrane lipids, as reflected by an increase in malondialdehyde content. With respect to osmotic fragility all the protectors used have the radioprotective effect. Malondialdehyde content was reduced in the presence of catalase, cysteine and glutathione, whereas SOD had no protective effect.
