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OBJECTIVE@#To observe the genotypes and composition ratio of thalassemia in couples of reproductive age, and provide a reference for the prevention and control of thalassemia in Haikou.@*METHODS@#Gene diagnosis was performed in 2 494 subjects who were screened for thalassemia before marriage or prenatal by cross-breakpoint PCR, PCR-reverse dot hybridization, and PCR-electrophoresis.@*RESULTS@#A total of 1 037 thalassemia gene carriers were detected in 2 494 samples, with a detection rate of 41.57%, of which 75.02% was α-thalassemia, 18.61% was β-thalassemia, and 6.36% was α-β complex thalassemia. There were 778 cases of α-thalassemia, mainly of deletion type, accounting for 76.99% (599/778). Twenty genotypes were detected, the highest three was --@*CONCLUSION@#In Haikou city, the gene carrying rate of thalassemia is very high, and the genotype distribution is different from other cities in Hainan Province, attention should be paid to the impact of population inflow on the frequency spectrum change of local thalassemia gene.
Subject(s)
Female , Humans , Pregnancy , Cities , Genetic Testing , Genotype , alpha-Thalassemia/genetics , beta-Thalassemia/geneticsABSTRACT
Objective The relationship between circular RNAs (circRNA) and lung adenocarcinoma (LAC) remains to be further explored. This study aimed to investigate the expression of Hsa_circ_0002360 in LAC and its value in the clinical diagnosis and treatment of the malignancy. Methods This study included 50 cases of LAC treated in our hospital from May 2018 to June 2019 and another 50 healthy subjects as normal controls. We determined the expression of Hsa_circ_0002360 in the LAC cells by qRT⁃PCR. We cultured human LAC cell lines A549, H1299 and H1975 and human bronchial mucosal epithelial cell line BEAS-2B, inoculated the A549 and H1975 LAC cells in the 6-well plate, with 3 wells for si-circRNAs and the other 3 for negative controls (si-NC), followed by cell transfection experiment. Using the CCK8, colony formation and wound healing assays, we detected the effects of Hsa_circ_0002360 on the activity, proliferation, invasiveness and metastasis of the A549 and H1975 cells. Results The expression of Hsa_circ_0002360 was significantly higher in the LAC tissue than in the adjacent tissue (2.84 ± 0.12 vs 1.46 ± 0.08, P < 0.01), and so was it in the serum of the LAC patients than in the normal controls (2.59 ± 0.17 vs 1.21 ± 0.11, P < 0.01), but remarkably lower in the serum of the patients after than before surgery (1.58 ± 0.09 vs 2.65 ± 0.13, P < 0.01). Besides, its expression was significantly increased in the LAC A549, H1299 and H1975 cell lines compared with that in the BEAS-2B cells (P < 0.05). In comparison with the si-NC group, the si-circRNA group showed significant decreases in the rates of colony formation ([65.66± 4.93]% vs [38.33 ± 1.69]%, P < 0.01) and migration of the cells ([54.66±4.10]% vs [13.50 ± 3.34]%, P < 0.01) and in the count of H1975 cells as well (P < 0.01). Conclusion Hsa_circ_0002360 can be used as a biomarker for the early diagnosis and treatment of lung adenocarcinoma.
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Objective To analyze the mechanism of the inhibition of proliferation, metastasis and the promotion of apoptosis of lung cancer cells by Sini Decoction combined with spectinomycin B1 from the perspective of protein SUMOylation modification. Methods The experiment was divided into control group, spectinomycin B1 group, Sini Decoction group, and combined treatment group. Human non-small cell lung cancer cell line A549 was treated for 48 h and Western blotting was used to detect the protein expression of small ubiquitin-related modified protein-1 (SUMO1), gene of phosphate and tension homology deleted on chromsome ten (PTEN), and phosphorylated Akt (p-Akt) and Caspase-9. Cell proliferation curves were drawn by MTT assay, and cell apoptosis was detected by flow cytometry; Cell migration and cell invasion were detected by cell scratch and Transwell assay. Results Both spectinomycin B1 and Sini Decoction an reduce the levels of covalent SUMO1 and p-Akt, increase the protein levels of PTEN and activate Caspase-9, inhibit cell proliferation, migration and invasion, and promote cell apoptosis. Combined treatment group can further enhance the above changes. Conclusion Sini Decoction can synergize with spectinomycin B1 to induce the dissociation of PTEN and SUMO1, thereby inhibiting the proliferation, metastasis and promoting apoptosis of lung cancer cells.
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<p><b>OBJECTIVE</b>To observe serum TGF-beta1 and TNF-alpha in silicosis patients and workers exposed to silica dust to study the role of TGF-beta1 and TNF-alpha in the development of silicosis.</p><p><b>METHODS</b>One hundred non-exposed workers were selected as control group, 200 workers exposed to silica dust for more than 1 year as exposed group, 32 suspected silicosis patients (originally diagnosed as 0+) as observing group, 130 silicosis patients were as silicosis group. Serum TGF-beta1 and TNF-alpha in each group were determined with ELISA.</p><p><b>RESULTS</b>Serum TNF-alpha in exposed group [(47.86 +/- 16.52) pg/ml], observing group [(109.11 +/- 31.08) pg/ml], silicosis group [(216.35 +/- 51.03) pg/ml] were significantly higher than that in control group [(6.90 +/- 2.24) pg/ml] (P < 0.01); Silicosis group and observing group were also higher than exposed group (P < 0.01, P < 0.05). Compared with control group [(23.28 +/- 12.24) pg/ml] and exposed group [(29.31 +/- 14.52) pg/ml], serum TGF-beta1 in silicosis group was much higher (P < 0.01).</p><p><b>CONCLUSION</b>TGF-beta1, and TNF-alpha were essential in the development of silicosis, so the detection of TGF-beta1 and TNF-alpha in peripheral blood was very useful for occupational health surveillance and early diagnosis of silicosis.</p>