Single nucleotide polymorphism

Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma

Q. Zhang, Lv, L. Y., Li, B. J., Zhang, J., and Wei, F., Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma, vol. 14, pp. 11235-11241, 2015.

We assessed the role of single nucleotide polymorphisms (SNPs) in ERCC1 and ERCC2 genes in the clinical outcomes for osteosarcoma patients receiving cisplatin-based treatment. A perspective study was conducted on 260 patients with osteosarcoma during 2010 and 2011. A polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay was used to assess the ERCC1 rs11615 and rs3212986, and the ERCC2 rs1799793 and rs13181 gene polymorphisms.

Significance of sarcomere gene mutation in patients with dilated cardiomyopathy

Y. D. Li, Ji, Y. T., Zhou, X. H., Li, H. L., Zhang, H. T., Zhang, Y., Li, J. X., Xing, Q., Zhang, J. H., Hong, Y. F., and Tang, B. P., Significance of sarcomere gene mutation in patients with dilated cardiomyopathy, vol. 14, pp. 11200-11210, 2015.

Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, which can facilitate the implementation of preventive measures by and within patient’s families. Here, we investigated the underlying genetic mutations involved in the cause of patients with DCM.

Pages

Subscribe to Single nucleotide polymorphism