Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.

Szijan, Irene; Lohmann, Dietmar; Parma, Diana Lidia; Brandt, Birgit; Horsthemke, Bernhard

doi:10.1136/jmg.32.6.475

Cited by 16 publications

(10 citation statements)

References 18 publications

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“…El análisis molecular fue informativo en 18 familias de las 34 incluidas en el estudio (53%) (tabla I), el 56% con Rb bilateral y el 44% con Rb unilateral (10)(11)(12)(13)(14). En 15 de ellas fue posible identificar si el alelo mutado era el paterno (en 6) o el materno (en 9).…”

Section: Resultsunclassified

“…Todos los casos fueron esporádicos, excepto la familia 1, que presentó padre (1) e hija (1´) con Rb. En total, se analizaron 130 muestras de ADN de leucocitos de sangre periférica, tumores y vellosidades coriónicas, por ensayos de Biología Molecular indirectos y directos como Southern blot (10), segregación de polimorfismos (11)(12)(13), PCR-heteroduplex y secuenciación (10,14) …”

Section: Sujetos Materials Y Métodosunclassified

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Importancia de los estudios de biología molecular en el asesoramiento genético de familias argentinas con retinoblastoma

Parma

Dalamon

Fernández

et al. 2009

Arch Soc Esp Oftalmol

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RESUMENObjetivo: Evaluar la importancia de la detección de mutaciones del gen RB1 en el asesoramiento gené-tico de las familias argentinas con retinoblastoma. Métodos: Se incluyeron en este estudio 34 familias argentinas con Retinoblastoma (Rb) bilateral y unilateral. Se analizaron 130 muestras de ADN de leucocitos, tumores y vellosidades coriónicas, por ensayos de Biología Molecular indirectos y directos, como Southern blot, segregación de los polimorfismos BamHI, Rbi4, XbaI y Rb 1.20 (PCR-RFLP, PCR-STR), PCR-heteroduplex y secuenciación del gen RB1. Resultados: El análisis molecular fue informativo en 18 familias de las 34 incluidas en el estudio (53%), el 56% con Rb bilateral y el 44% con Rb unilateral. Se contó con muestras de ADN tumoral de 11 pacientes que se estudiaron para detectar pér-dida de heterocigosidad (LOH), que posibilitó identificar el alelo RB1 mutado en 9 pacientes (82%). Cuando no se analizaron las muestras tumorales, ABSTRACTObjective: Evaluate the relevance of RB1 mutations detection in the genetic counselling of Argentine retinoblastoma families. Methods: We included in this study 34 Argentine families with bilateral and unilateral Retinoblastoma (Rb). 130 DNA samples from leukocytes, tumors and chorionic villus were analyzed by indirect and direct molecular biology assays like Southern blot, segregation of polymorphisms BamHI, Rbi4, XbaI y Rb 1.20 (PCR-RFLP, PCR-STR), PCR-heteroduplex and sequencing of RB1 gene. Results: Molecular biology analysis was informative in 18 out of 34 families studied (53%), 56% with bilateral and 44% with unilateral Rb. DNA tumor samples of 11 patients were available and could be studied by loss of heterozygosity (LOH) detection, that allowed us to identify the mutated RB1 allele in 9 (82%) patients. When tumor samples were not analized, the studies were informative only in 9 out of 23 patients (39%); we used direct mutation

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Section: Resultsunclassified

Section: Sujetos Materials Y Métodosunclassified

Importancia de los estudios de biología molecular en el asesoramiento genético de familias argentinas con retinoblastoma

Parma

Dalamon

Fernández

et al. 2009

Arch Soc Esp Oftalmol

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“…A molecular analysis of the gene is important to determine its origin and to give an accurate genetic counseling as well as to understand the different mechanisms involved in the development of this tumor. Few reports exist in South America about the retinoblastoma gene (Szijan et al, 1995;Rodriguez et al, 2002), and to our knowledge, there are no previous studies on this subject in Ecuadorian patients.…”

Section: Introductionmentioning

confidence: 95%

Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients

et al. 2003

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RB1 is the gene responsible for retinoblastoma, the most common malignant intraocular tumor of infancy and early childhood. There are no reports about this gene in Ecuadorian populations, and only a few studies have been published in Latin America about this subject. There is a spectrum of more than 370 mutations described in the RB1 gene mutation database (http://www.d-lohmann.de/ Rb/mutations.html), and alterations have been found in 25 of the 27 exons. During the exon-by-exon analysis of 31 tumor and blood samples from Ecuadorian patients, we found two new mutations and three novel polymorphisms. One of the polymorphisms is located in intron 26 where no alterations of the gene have been described previously. The polymorphisms were found in all of the patientsÕ tumor samples, but not in normal population, suggesting there might be a relationship between these polymorphisms and the development of retinoblastoma in the Ecuadorian population.

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“…The father had had RB and the identified mutation was as a C-to-T transition in exon 18, changing the arginine to the stop codon (CGA→TGA) [4]. The father's and chorionic villus DNA digested with DdeI showed 3 bands (heterozygous mutation) while the control DNA showed only one band ( fig.…”

Section: Prenatal Analysis In the Rb1 Familymentioning

confidence: 99%

“…Analysis of exons 14, 15/16, 17, 18, 19, 20, 24 and 27 of RB1 was performed in tumor DNA by PCR amplification and electrophoresis [4].…”

Section: Segregation Of Polymorphisms and Exon Analysesmentioning

confidence: 99%

Detection of Mutations in Argentine Retinoblastoma Patients by Segregation of Polymorphisms, Exon Analysis and Cytogenetic Test

et al. 2001

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The aim of this study was to detect chromosomal and molecular abnormalities in 16 Argentine families with retinoblastoma (RB). Chromosomes were analyzed by G-banding, DNA from leukocytes and tumors was studied by segregation of polymorphisms within RB gene (RB1) and the DNA from chorionic villus by sequencing. The karyotype of an Rb236 bilateral patient with dismorphic signs revealed a deletion in 13q13–21. Polymorphism and exon analyses showed a deletion in the 3′ end of RB1 in an Rb72 patient. The mutant RB1 allele, detected by loss of heterozygosity (LOH) in the tumor, was identified in 14 out of 18 tumors. The analysis of chorionic villus revealed a mutation, a C-to-T transition in exon 18. Molecular and cytogenetic analyses in families with RB offer valuable information on how to assess the risk of tumor development.

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Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.

Cited by 16 publications

References 18 publications

Importancia de los estudios de biología molecular en el asesoramiento genético de familias argentinas con retinoblastoma

Importancia de los estudios de biología molecular en el asesoramiento genético de familias argentinas con retinoblastoma

Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients

Detection of Mutations in Argentine Retinoblastoma Patients by Segregation of Polymorphisms, Exon Analysis and Cytogenetic Test

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