FHIT Gene mutations and single nucleotide polymorphism in Indian oral and cervical squamous cell carcinomas

Genetic alterations at the FHIT (fragile histidine triad) tumor suppressor gene have been found in various human cancers. We have made an attempt to f ind point mutations of this gene in two different cancers from India, with entirely different etiologic factors: ol al cancel (55 samples) caused by c hewing tobacco and cervical cancer (43 samples) caused mainly by HPV (human papilloma virus) infection. Analysis of tumor DNA by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method was perf ormed on each of FHIT exons 5-9 individually. using exon-flanking primers. Two different mutations were identified in both oral and cervical tumors: o ne at the second nucleotide 3' to the termination codon (TGA) in exon 9 and the other at the ninth nucleotide upstream to the beginning of exon 9. The se results indicate that mutations in the FHIT gene are rare events in thes e tumors in India (approximately 4%). In addition, we found a single nucleo tide FHIT gene polymorphism which is due to TA replacement at 17 nucleotide s upstream to exon 9 where the A allele is 0.6 of the population. (C) 2000 Elsevier Science Ltd. All rights reserved.