Molecular analysis of alleles segregation at RFLPs within RB-1 gene in four families with hereditary retinoblastoma
Kostyk, E.; Wieckiewicz, J.; Sutkowska, A.; Zygulska-Mach, H.; Pietrzyk, J.J.
Materia Medica Polona. Polish Journal of Medicine and Pharmacy 26(3): 105-108
1994
ISSN/ISBN: 0025-5246 PMID: 7603079 Document Number: 428603
Four families with suspected hereditary retinoblastoma in proband and one other family member were examined by genetic segregation analysis of the RB-1 gene loci with specific RFLPs of chromosome 13. Two families, TA-6 and partially CK-46, were informative using this method. In TA-6 family healthy sister (TA-6/10) of the proband was shown not to be a carrier of the mutant RB-1 gene. These results show that the segregation analysis of PB-1 gene loci with specific RFLPs, used as the DNA markers, could be helpful in the genetic diagnosis and counselling in families with hereditary retinoblastoma.