Role of IL-17 gene polymorphisms in the susceptibility to gastric cancer.

We conducted a study to investigate the role of three IL-17 gene single nucleotide polymorphisms (SNP) (rs2275913G>A, rs3748067C>T, and rs763780 T>C) in the development of gastric cancer. A total of 252 patients with gastric cancer and 252 control subjects were collected between May 2012 and May 2014. The SNP genotyping of IL-17A rs2275913G>A and rs3748067C>T and IL-17F rs763780 T>C was performed using the Sequenom MassARRAY platform (Sequenom, San Diego, CA, USA) according to the manufacturer instructions. By conditional regression analysis, individuals carrying the AA and the GA+AA genotypes of rs2275913G>A were correlated with an elevated risk of gastric cancer when compared with those carrying the GG genotype, and the adjusted ORs (95%CIs) were 2.05 (1.13-3.76) for the AA genotype and 1.45 (1.03-2.08) for the GA+AA genotype. In conclusion, our results suggest that the IL-17A rs3748067C>T and IL-17F rs763780 T>C polymorphisms play an important role in the risk of gastric cancer in a Chinese population.

Detection of Klinefelter syndrome by G-banding analysis combined with primed in situ labeling technique.

Primed in situ labeling (PRINS) technique is an alternative to in situ hybridization for rapid chromosome screening. We employed triple-color PRINS technique to detect chromosomal abnormalities in Klinefelter syndrome patients diagnosed by G-banding karyotype analysis. Among 1034 infertile male patients, 134 were found to be cytogenetically abnormal, including 70 with chromosomal number abnormalities and 64 with chromosomal structure abnormalities. Among these cytogenetically abnormal patients, 56 were diagnosed as having Klinefelter syndrome. PRINS technique was used on cultured lymphocyte metaphase cells of the Klinefelter syndrome patients; the same result was obtained with G-banding karyotype analysis. PRINS proved to be a rapid and reliable method to detect numerical chromosome abnormalities in peripheral blood lymphocytes in metaphase.

Primed in situ labeling for detecting single-copy genes.

In order to analyze male sterility caused by deletion of SRY and DAZ, we examined the accuracy and cost-effectiveness of a modified primed in situ labeling (PRINS) technique for detection of single-copy genes. Peripheral blood samples were collected from 50 healthy men; medium-term cultured lymphocytes from these samples were suspended in fixative solution and then spread on clean slides. We used four primers homologous to unique regions of the SRY and DAZ regions of the human Y-chromosome and incorporated reagents to increase polymerase specificity and to enhance the hybridization signal. PRINS of SRY and DAZ gave bands at Yp11.3 and Yq11.2, respectively, in all 50 metaphase spreads. The PRINS SRY signals were as distinct as those obtained using traditional fluorescence in situ hybridization (FISH). This new method is ideal for rapid localization of single-copy genes or small DNA segments, making PRINS a cost-effective alternative to FISH. Further enhancement of PRINS to increase its speed of implementation may lead to its wide use in the field of medical genetics.