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
Article
Dans Anglais
| 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
Recherche sur Google
Indice:
LILAS (Amériques)
Sujet Principal:
Rétinoblastome
/
Polymorphisme de restriction
/
Gènes du rétinoblastome
/
Tumeurs de l'oeil
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Braz. j. med. biol. res
Thème du journal:
Biologie
/
Médicament
Année:
1993
Type:
Article
/
Congrès et conférence
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS