Identification of polymorphisms in the human Reprimo gene using public EST data.

The human Reprimo gene is a recently identified cytoplasmic protein, which plays an important role in the regulation of p53-dependent G2 arrest of the cell cycle. Genetic variations in the Reprimo gene that may influence enzyme activity can be of both biological and epidemiological significance. The human expressed sequence tag (EST) database is a wealth of resources, which can be used to rapidly screen for potential polymorphisms in proteins of physiological interest. On the basis of the alignment of human EST sequences, we identified two candidate polymorphisms at nucleotides 824 and 839 in the 3'-untranslated region of the Reprimo gene. The presence of these polymorphisms was confirmed in a Caucasian population (n=82) by the use of the allele specific polymerase chain reaction (PCR). The rare allele frequency at position 824 (38.4%) is much higher than rare allele frequency at position 839 (3.7%). Our results suggest that the human EST data may serve as a valuable source for the rapid identification of genetic variation.