PCR detection of Xbal polymorphism in the human Rb gene of retinoblastoma patients
Braz. j. med. biol. res
;
26(10): 1031-6, Oct. 1993. ilus
Artigo
em Inglês
| LILACS
| ID: lil-148778
ABSTRACT
Inactivation of the Rb (retinoblastoma) tumor suppressor gene is associated with hereditary and sporadic cases of retinoblastoma and other Rb-related tumors. Early diagnosis and genetic counseling heavily depend on practical methods for the detection of Rb deletions and mutations in high-risk families. Here we report on the use of a pair of primers in polymerase chain reaction (PCR) to amplify a 945-bp fragment from intron 17 of the Rb gene (T.L. McGee, G.S. Cowley, D.W. Yandell and T.P. Dryja, 1990, Nucleic Acid Research, 18 207). Xbal digestion of the PCR product reveals 2 allelic versions a single 945-bp fragment (allele 1) or 2 fragments of 315 and 630 bp (allele 2). We used total genomic DNA (blood and tumors) to investigate the power of this PCR-Rb-Xbal-RFLP in the identification of both segregation and loss of heterozygosity of the Rb gene. In one family studied (family 1A) in which 2 generations were affected, it was possible to localize the mutated Rb gene to Xbal-Rb allele 2. The assay of loss of heterozygosity of the Rb gene is available for all Xbal-Rb allele 1-2 individuals, so that analyses may be applied in large scale investigation of the participation of Rb gene in tumor development. We conclude that PCR-Rb-Xbal-RFLP is a practical and powerful tool for oncology research and genetic counseling
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Índice:
LILACS (Américas)
Assunto principal:
Retinoblastoma
/
Polimorfismo de Fragmento de Restrição
/
Genes do Retinoblastoma
/
Neoplasias Oculares
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
1993
Tipo de documento:
Artigo
/
Congresso e conferência
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