2024-03-28T15:49:10Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/245652016-02-16T07:08:51Zcom_10261_22com_10261_1col_10261_275
DIGITAL.CSIC
author
Alonso, Javier
author
Menéndez, Ibis
author
López, Andres
author
Frayle, Helena
author
Ruisánchez, Nora
author
Pestaña, Ángel
2010-05-21T09:13:40Z
2010-05-21T09:13:40Z
2004-07
Genes Chromosomes and Cancer 40(3): 271-275 (2004)
1045-2257
http://hdl.handle.net/10261/24565
10.1002/gcc.20042
We report the presence of a hemizygous inactivating germ-line RB1 mutation (a recurrent g.78250C-->T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinoblastoma. Hemizygosity was established by sequencing that showed no traces of the wild-type C nucleotide and by quantitative real-time PCR, which showed loss of one copy of exon 17. Genotyping of the RB1 locus with several polymorphic markers delineated a maximal deletion region between g.76875 and g.99426, including exons 15-17 and a large piece (21 kb) of intron 17. The heterozygosity for the mutation found in skin fibroblasts proves that the intragenic RB1 deletion probably took place in the definitive hematopoietic lineage of the patient. The presence of a null Rb-/- genotype in the hematopoietic cell lineage suggests that the white blood cells of the proband could be useful in the investigation of the role of complementary RBI family proteins in the control of the cell cycle.
eng
closedAccess
Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient
artículo
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URL
https://digital.csic.es/bitstream/10261/24565/3/accesoRestringido.pdf
File
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accesoRestringido.pdf
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https://digital.csic.es/bitstream/10261/24565/5/accesoRestringido.pdf.txt
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accesoRestringido.pdf.txt