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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 12, No. 1, 2006, pp. 34-38
Bioline Code: hg06007
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 12, No. 1, 2006, pp. 34-38

 en CGA codons multiplex PCR in rapid diagnosis of retinoblastoma
Mamatha Gandra, Joseph Biju, Shanmugam MaheshPalanivelu, Kumaramanickavel Govindasamy


Background: Multiplex polymerase chain reaction allows amplification of multiple target sequences of a genome under identical conditions in a single tube. This "one-shot" polymerase chain reaction detection is time and cost effective when large or multiple genes, with many target fragments are investigated. This is applicable for retinoblastoma susceptibility gene having 27 exons with recurrent mutations reported at most of the 12 CGA codons.
Materials and Methods: Multiplex polymerase chain reaction assay for the amplification of 12 CGA codons, which constitutes about 50 % of retinoblastoma susceptibility gene mutations has been designed. The time and cost (includes only reagent cost) involved in both multiplex and uniplex polymerase chain reaction was also calculated.
Results: Twelve CGA codons were multiplexed in 5 instead of 12 uniplex polymerase chain reactions, which took 36 hours and 9.78 US$ whereas multiplex polymerase chain reaction took 15 hours and 6.88 US$. Multiplex polymerase chain reaction method saved 58.3% of time and 29.6% of cost over uniplex polymerase chain reaction.
Conclusion: Saving time by more than half and cost by nearly a third would help clinicians and geneticists while counseling retinoblastoma patients.

CGA codons, multiplex polymerase chain reaction, retinoblastoma, RB1 gene and rapid diagnosis.

© Copyright 2006 Indian Journal of Human Genetics.
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