Abstract
Objective
To investigate homozygous deletions and mutations in the CDKN2A gene (p16INK4a and p14ARF gene) in hydatidiform moles.
Methods
A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC.
Results
i) Among 38 hydatidiform mole samples, homozygous deletions in the p16INK4a exon 1 were identified in 5 cases (13.2%), while no homozygous deletions were found in the p16INK4a exon 1 of 30 early-pregnancy samples. The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant (P = 0.036). ii) No homozygous deletions in the p14ARF exon 1 or p16INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples. iii) In all hydatidiform moles and early-pregnancy villi samples, no mutations were detected by DHPLC.
Conclusion
We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions, while mutations may be not a major cause.
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References
Tian G, Ma J, Wang J. Research of homozygous deletion of gene p14ARF and expression of its product in thyroid tumors. Chin J Cancer Prev Treat 2005; 12: 1292–1294 (Chinese).
Stott FJ, Bates S, James MC, et al. The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J 1998; 17: 5001–5014.
Chen L, Li Y, Gao L. The anylasis of P16 gene deletion and mutation in esophageal squamous cell carcinoma. Chin J Clin Oncol 2004; 31: 1381–1384 (Chinese).
Zhang L, Wang S, Wang X, et al. Quantitative and qualitative assay of p16 in esophageal carcinoma and precancerous lesion. Chin J of Clin Oncol 2006; 33: 427–430 (Chinese).
Gao L, Hu Y, Li J, et al. The relationship between INK4a/ARF genes methylation and proteins coexpression in non-small cell lung cancer. Chin J Clin Oncol 2006,33: 130–133 (Chinese).
Scacchi R, Gambina G, Moretto G, et al. A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer’s disease. Neurosci Lett 2007; 418: 282–285.
Kleibl Z, Havranek O, Prokopcova J, et al. Rapid detection of CAA/CAG repeat polymorphism in the AIB1 gene using DHPLC. Biochem Biophys Methods 2007; 70: 511–513.
Underhill PA, Jin L, Lin AA, et al. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 1997; 7: 996–1005.
Zhang L, Xu G, Nicholas CP, et al. Application of denaturing high performance liquid chromatography to mutation detection of the c-kit gene in mastocytosis. Cross J Exp Hematol 2006; 14: 981–984 (Chinese).
Wang Z, Dai S, Luo B. The value of p16 and p15 genes in predicting canceration of hydatidiform mole. Med J Qilu 2005; 20: 117–121 (Chinese).
Xue WC, Chan KYK, Feng HC, et al. Promoter hypermethylation of multiple genes in hydatidiform mole and choriocarcinoma. J Mol Diagn 2004; 6: 326–332.
Pineau P, Marchio A, Cordina E, et al. Homozygous deletions scanning in tumor cell lines detects previously unsuspected loci. Int J Cancer 2003; 106: 216–223.
Grafstrom E, Egyhazi S, Ringborg U, et al. Biallelic deletions in INK4 in cutaneous melanoma are common and associated with decreased survival. Clin Cancer Res 2005; 1: 2991–2997.
Chang LL, Yeh WT, Yang SY, et al. Genetic alterations of p16INK4a and p14ARF genes in human bladder cancer. J Urol 2003; 170: 595–600.
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This work was supported by a grant from the National Natural Science Foundation of China (No. 30772321).
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Wang, J., Wu, S., Gu, Y. et al. Detection of homozygous deletions and mutations in the CDKN2A gene in hydatidiform moles. Chin. J. Clin. Oncol. 5, 99–102 (2008). https://doi.org/10.1007/s11805-008-0099-y
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DOI: https://doi.org/10.1007/s11805-008-0099-y