Objective To investigate the copy number changes on chromosome 3q26. 1 in urothelial carcinoma of the bladder, and to explore its potential clinical significance. Methods The microarray-based comparative genomic hybridization (Array-CGH) approach was used to analyze the genome-wide copy number changes of 35 tumor tissue samples of bladder cancer. To confirm the loss of a small fragment in 3q26. 1 detected by Array-CGH, real-time fluorescent quantitative polymerase chain reaction (real-time PCR) was performed with 57 frozen tumor tissue samples and 34 formalinfixed paraffin-embedded (FFPE) tumor tissue samples. The urine sediment cells collected from 15 healthy volunteers and 29 bladder cancer patients were checked as above. Results The Array-CGH data showed that the copy number loss of a small fragment in 3q26. 1 was detected in 77.1% (27/35)of the tumor tissue samples investigated. Real-time PCR analysis validated this loss of a small fragment of 3q26.1 with high frequencies in both 57 frozen tumor samples and 34 FFPE tumor samples.The percentage of samples exhibiting loss was 78.9% (45/57) and 100. 0% (34/34) respectively.Furthermore, the relative copy number of the 3q26.1 small fragment was significantly lower in the urinary sediment cells of the patients (median=0. 0020), comparing with that of healthy controls (median=0. 0030) (P＜0.01). Conclusions Loss of the small fragment in 3q26.1 could be a characteristic genetic change of urothelial carcinoma of the bladder. It may serve as a potential molecular marker for bladder cancer.

Objective:To investigate the distribution of single nucleotide polymorphism and haplotype of human leucocyte antigen G 3′untranslated region gene, which possibly could be predictive roles in unexplained recurrent spontaneous abortion patients.Methods:Case-control method was used in this study. 70 cases of pregnant women with unexplained recurrent spontaneous abortion and 54 cases of prenatal examination women whose peripheral blood and serum were collected in Wenzhou Hospital of Chinese Traditional Medicine were recorded from June 2017 to July 2018. Blood gene DNA was extracted by centrifuge column and was amplified by polymerase chain reaction. Sanger sequencing method was used for genotyping. The genotypes frequency, linkage imbalance analysis and haplotypes construction of SNPs were analyzed by SHEsis online software and Phase software. Serum soluble HLA-G concentration was detected by ELISA.Results:There were eight SNPs, including 14bp ins/del,+3003C/T,+3010G/C,+3027A/C,+3035C/T,+3142C/G,+3187A/G and+3196C/G, were detected in both the URSA group and the control group. Results showed that the distribution differences of+3010G/C,+3142C/G and+3187A/G between the two groups were statistically significant (χ 2=8.514, P=0.004; χ 2=0.552, P=0.021; χ 2=8.183, P=0.005) .The C allele at the+3010G/C site and the G allele at the +3142C/G site might be risk factors for URSA ( OR=2.131, 95 %CI=1.278-3.552, χ 2=8.514, P=0.004; OR=1.813, 95 %CI=1.091-3.013, χ 2=0.552, P=0.021) ;the G allele at +3187A/G site might be a protective factor for URSA ( OR=0.476, 95 %CI=0.285-0.794, χ 2=8.183, P=0.005) .Haplotype analysis revealed that UTR-1 (DTGCCCGC) might be a protective factor for URSA ( OR=0.497, 95 %CI=0.295-0.837,χ 2=6.987, P=0.008), while UTR-3 (DTCCCGAC) might be a risk factor for URSA ( OR=1.732, 95 %CI=1.009-2.974, χ 2=3.998, P=0.045).The frequency of UTR-1/UTR-1 homozygous in URSA patients was lower than that in normal patients obviously( OR=0.381, 95 %CI=0.165-0.879, χ 2=5.292, P=0.024), which might be a protective factor for pregnancy. No association was found between serum soluble HLA-G and HLA-G 3′UTR gene haplotypes in URSA ( t=1.578, P=0.119) . Conclusions:HLA-G 3′UTR gene polymorphism and haplotypes are correlated with URSA. The study lays a foundation for future research and provides a basis for clinical individualized medicine.