More Information
Related Jobs from ScienceCareers
|
|
Science 21 July 2000:
Vol. 289. no. 5478, p. 357
DOI: 10.1126/science.289.5478.357p
|
|
This Week in Science
Bell et al. (Reports, 24 December 1999, p. 2528) tied heterozygous germ line mutations in the checkpoint gene hCHK2 to incidence of Li-Fraumeni syndrome (LFS). Drawing on recently deposited human genome sequence data, Sodha et al. point out the presence of six homologous fragments of the gene that include exons 10 through 14, and identify one of the mutations discussed by Bell et al., deletion of T at nucleotide 1422 (1422delT), in one of these homologous fragments in 5% of control individuals screened. They suggest that some of the Bell et al. results may thus have stemmed from amplification of this homologous fragment. "The presence of several homologous fragments of the gene," conclude Sodha et al., "has implications for mutation screening in this region of the gene using genomic DNA."Bell et al., in their response, agree with that statement and acknowledge the presence of the 1422delT mutation in the homologous fragment described by Sodha et al. in one of the cases studied. They note, however, that in other cases the mutation in hCHK2 was identified using both genomic DNA sequencing and reverse transcriptase-polymerase chain reaction (RT-PCR) analysis of the hCHK2 transcript and that their reexamination confirms that other key mutations discussed in the original study are present in the functional hCHK2 gene.The full text of these comments can be seen at www.sciencemag.org/cgi/content/full/289/5478/359a
|
|
Science. ISSN 0036-8075 (print), 1095-9203 (online)
