array:23 [ "pii" => "S0025775300716174" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71617-4" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71617" "copyright" => "Elsevier España, S.L.. Todos los derechos reservados" "copyrightAnyo" => "2000" "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2000;115:540-1" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 3720 "formatos" => array:3 [ "EPUB" => 8 "HTML" => 3509 "PDF" => 203 ] ] "itemSiguiente" => array:18 [ "pii" => "S0025775300716186" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71618-6" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71618" "copyright" => "Elsevier España, S.L." "documento" => "article" "crossmark" => 0 "subdocumento" => "edi" "cita" => "Med Clin. 2000;115:542-5" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 1402 "formatos" => array:3 [ "EPUB" => 7 "HTML" => 1257 "PDF" => 138 ] ] "es" => array:7 [ "idiomaDefecto" => true "titulo" => "Luces y sombras en el trasplante hepático" "tienePdf" => "es" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "542" "paginaFinal" => "545" ] ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Pascual Parrilla, Pablo Ramírez" "autores" => array:2 [ 0 => array:2 [ "nombre" => "Pascual" "apellidos" => "Parrilla" ] 1 => array:2 [ "nombre" => "Pablo" "apellidos" => "Ramírez" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300716186?idApp=UINPBA00004N" "url" => "/00257753/0000011500000014/v1_201307291650/S0025775300716186/v1_201307291650/es/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S0025775300716162" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71616-2" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71616" "copyright" => "Elsevier España, S.L." "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2000;115:534-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 28608 "formatos" => array:3 [ "EPUB" => 6 "HTML" => 28411 "PDF" => 191 ] ] "es" => array:10 [ "idiomaDefecto" => true "titulo" => "Estudio prospectivo a 10 años sobre la incidencia y factores de riesgo de diabetes mellitus tipo 2" "tienePdf" => "es" "tieneTextoCompleto" => 0 "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "534" "paginaFinal" => "539" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Incidence and risk factors for type 2 diabetes mellitus: a 10-year prospective study" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "José Antonio Vázquez, Sonia Gaztambide, Enrique Soto-Pedre" "autores" => array:3 [ 0 => array:2 [ "nombre" => "José" "apellidos" => "Antonio Vázquez" ] 1 => array:2 [ "nombre" => "Sonia" "apellidos" => "Gaztambide" ] 2 => array:2 [ "nombre" => "Enrique" "apellidos" => "Soto-Pedre" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300716162?idApp=UINPBA00004N" "url" => "/00257753/0000011500000014/v1_201307291650/S0025775300716162/v1_201307291650/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Distribución del genotipo A(TA)<span class="elsevierStyleInf">7</span>TAA asociado al síndrome de Gilbert en la población española" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "540" "paginaFinal" => "541" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "José Miguel Fernán:dez Salazar, Ángel Remacha Sevilla, Elisabeth del Río Conde, Montserrat Baiget Bastús" "autores" => array:4 [ 0 => array:3 [ "nombre" => "José" "apellidos" => "Miguel Fernán:dez Salazar" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "Ángel" "apellidos" => "Remacha Sevilla" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 2 => array:3 [ "nombre" => "Elisabeth" "apellidos" => "del Río Conde" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:4 [ "nombre" => "Montserrat" "apellidos" => "Baiget Bastús" "email" => array:1 [ 0 => "mbaiget@hsp.santpau.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Laboratorio Central. Complejo Hospitalario San Millán-San Pedro. Logroño." "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servei de Genètica. Hospital de la Santa Creu i Sant Pau. Barcelona." "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Departament d'Hematologia. Hospital de la Santa Creu i Sant Pau. Barcelona." "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Dra. M. Baiget Bastús Servei de Genètica. Hospital de la Santa Creu i Sant Pau. Avda. Sant Antoni M.a Claret, 167. 08025 Barcelona." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Variability in the <span class="elsevierStyleItalic">UGT-1</span> gene promoter and Gilbert's syndrome" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-04-03" "fechaAceptado" => "2000-09-07" "PalabrasClave" => array:1 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec222530" "palabras" => array:3 [ 0 => "Síndrome de Gilbert" 1 => "Gen UGT-1" 2 => "Genotipo A(TA)<span class="elsevierStyleInf">7</span>TAA" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Fundamento</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Se analiza la distribución del genotipo A(TA)<span class="elsevierStyleInf">7</span>TAA asociado al síndrome de Gilbert en la población española.</p> <span class="elsevierStyleSectionTitle">Pacientes y método</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Se han analizado 100 donantes de sangre utilizando la técnica de la reacción en cadena de la polimerasa (PCR) para analizar el número de repeticiones del par de bases TA en el promotor del gen de la enzima UDP-glucuronosiltransferasa (<span class="elsevierStyleItalic">UGT-1</span>).</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">En población española, la frecuencia del genotipo homocigoto mutado (7/7) es del 9%. El 51% de los individuos analizados resultaron heterocigotos (6/7).</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">El porcentaje de alelos mutados detectados en la población analizada, similar al hallado en otras poblaciones caucásicas, plantea la inclusión del análisis genotípico del gen<span class="elsevierStyleItalic">UGT-1</span> en el protocolo diagnóstico de hiperbilirrubinemias no conjugadas, crónicas, de intensidad moderada, en ausencia de hemólisis y de enfermedad hepática.</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">We have examined the variation in the promoter region in the gene encoding<span class="elsevierStyleItalic">UGT-1</span>, associated with Gilbert's syndrome, in Spanish population.</p> <span class="elsevierStyleSectionTitle">Patients and method</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Blood DNA was obtained from 100 blood donors. Polymerase chain reaction (PCR) was used to examine the A(TA)nTAA motif in the promoter region of the <span class="elsevierStyleItalic">UGT-1</span> gene.</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">The frequency of the abnormal 7/7 genotype in Spanish population was 9%. The heterozygous 6/7 genotype was identified in 51% of the subjects.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">The frequency of the abnormal allele, similar in different caucasian populations, raise the question whether it would be worthwhile and cost-effective to introduce molecular screening for Gilbert's syndrome in the study of mild, chronic unconjugated hyperbilirubinemia, in the absence of haemolysis or evidence of hepatic injury.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias Bibliográficas" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:8 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hereditary jaundice and disorders of." "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "J.R. Chowdhury" 1 => "A.W. Wolkoff" 2 => "N.R. Chowdhury" 3 => "I.M. Arias" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "LibroEditado" => array:4 [ "paginaInicial" => "2161" "paginaFinal" => "2208" "serieTitulo" => "The metabolic and molecular basis of inherited diseases." "serieFecha" => "1995" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "BilirubinUDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man." "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "P.J. Bosma" 1 => "J. Seppen" 2 => "B. Goldhoorn" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Biol Chem" "fecha" => "1994" "volumen" => "269" "paginaInicial" => "17960" "paginaFinal" => "17964" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8027054" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetic variation in bilirubin UDP-glucoronosyltransferase gen promoter and Gilbert´s syndrome." "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "G. Monaghan" 1 => "M. Ryan" 2 => "R. Seddon" 3 => "R. Hume" 4 => "B. Burchell" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Lancet" "fecha" => "1996" "volumen" => "347" "paginaInicial" => "578" "paginaFinal" => "581" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8596320" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular pathology of Crigler-Najjar type I and II and Gilbert´s Syndrome." "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "M. Sampietro" 1 => "A. Iolascon" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Haematologica" "fecha" => "1999" "volumen" => "84" "paginaInicial" => "150" "paginaFinal" => "157" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10091414" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Co-inherited Gilbert´s syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassaemia." "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "R. Galanello" 1 => "M.D. Cipollina" 2 => "C. Dessi" 3 => "N. Giagu" 4 => "E. Lai" 5 => "A. Cao" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Haematologica" "fecha" => "1999" "volumen" => "84" "paginaInicial" => "103" "paginaFinal" => "105" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10091405" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:1 [ "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "E. Miraglia del Giudice" 1 => "S. Perrotta" 2 => "B. Nobili" 3 => "C. Specchia" 4 => "G. d'Urzo" 5 => "Iolascon. A" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Blood" "fecha" => "1999" "volumen" => "94" "paginaInicial" => "2259" "paginaFinal" => "2262" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10498597" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0045" "etiqueta" => "9." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Gilbert´s syndrome is a contributory factor in prolonged uncongugated hyperbilirubinemia of the newborn." "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "G. Monaghan" 1 => "A. McLellan" 2 => "A. McGeehan" 3 => "S. Li Volti" 4 => "F. Mollica" 5 => "I. Salemi" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1999" "volumen" => "134" "paginaInicial" => "441" "paginaFinal" => "446" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10190918" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0050" "etiqueta" => "10." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Racial variability in the UDP-glucuronosyltransferase 1 (UGT- 1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?." "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "E. Beutler" 1 => "T. Gelbart" 2 => "A. Demina" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Proc Natl Acad Sci USA" "fecha" => "1998" "volumen" => "95" "paginaInicial" => "8170" "paginaFinal" => "8174" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9653159" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "es" "url" => "/00257753/0000011500000014/v1_201307291650/S0025775300716174/v1_201307291650/es/main.assets" "Apartado" => array:4 [ "identificador" => "24087" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Original breve" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/00257753/0000011500000014/v1_201307291650/S0025775300716174/v1_201307291650/es/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300716174?idApp=UINPBA00004N" ]
Información de la revista
Compartir
Descargar PDF
Más opciones de artículo
Distribución del genotipo A(TA)7TAA asociado al síndrome de Gilbert en la población española
Variability in the UGT-1 gene promoter and Gilbert's syndrome
José Miguel Fernán:dez Salazara, Ángel Remacha Sevillac, Elisabeth del Río Condeb, Montserrat Baiget Bastúsb,
Autor para correspondencia
mbaiget@hsp.santpau.es
Correspondencia: Dra. M. Baiget Bastús Servei de Genètica. Hospital de la Santa Creu i Sant Pau. Avda. Sant Antoni M.a Claret, 167. 08025 Barcelona.
Correspondencia: Dra. M. Baiget Bastús Servei de Genètica. Hospital de la Santa Creu i Sant Pau. Avda. Sant Antoni M.a Claret, 167. 08025 Barcelona.