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PTCH1 and SMO Gene Alterations in Keratocystic Odontogenic Tumors

L.-S. Sun, X.-F. Li and T.-J. Li^*

Department of Oral Pathology, Hospital and School of Stomatology, Peking University, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, P.R. China

View larger version (32K): [in this window] [in a new window]   Figure 1. Identification of PTCH1 mutations in KC30. Nonsense mutation (c.403C>T) showed a homozygous pattern in DNA samples of KCOT, but was absent in peripheral blood DNA (left). Two concomitant polymorphisms (c.2913T>C; c.3141T>G) were homozygous in the tumor, but heterozygous in blood DNA (right), suggesting allelic loss (W, wild-type; T, KCOT tissue; B, peripheral blood).

View larger version (41K): [in this window] [in a new window]   Figure 2. RT–PCR and sequencing analysis of aberrant splicing of PTCH1. (A) (upper left) Agarose electrophoresis of RT-PCR products (exons 8–13) with total RNA extracted from KCOT samples of KC15 (no PTCH1 mutation identified), NB7 (c.1347+6G>A), and NB9 (c.1504-1G>A). The lanes are as follows: M (Marker DL2000); KC15, NB7, NB9 in the presence (+) and absence (–) of reverse transcriptase. (right) DNA sequencing of RT-PCR products. The consistent alternative transcript (588 bp) is the result of the skipping of exon 10; the extra bands of NB7 (456 bp) and NB9 (489 bp) are the result of the skipping of exons 9–10 and exons 10–11, respectively. (lower left) Schematic representation of abnormal splicing identified in NB7 and NB9. The positions of point mutations are indicated by asterisks. (B) Exons 13–17 amplified by RT–PCR with total RNA extracted from KC15, NB8 (c.2251-3C>G), and NB10 (c.2560+1G>T). Sequence analysis of the additional fragment of NB10 (667 bp) showed skipping of the entire exon 15, resulting in a frameshift translation and a stop codon (below in the Fig.).

Journal of Dental Research, Vol. 87, No. 6, 575-579 (2008)
DOI: 10.1177/154405910808700616


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