[Analysis of the Types of Thalassemia Gene Mutations in Nanping Area of Fujian, China].

OBJECTIVE: To investigation the types and frequencies of thalassemia gene mutations in pregnant population in Nanping area of Fujian Province, so as to provide a basis for prevention and control of birth children with moderate and severe thalassaemia in this area. METHODS: The genotyping of α and ß thalassemia was performed using the gap-PCR (gap-PCR) technique combined with reverse dot blot (RDB). The genotyping test was performed by Gap-PCR for three rare deficient thalassemia. The cases with negative detection were further detected by Sanger sequencing method, so as to identify rare α or ß thalassemia mutation. RESULTS: 1120 specimens were genotyped for thalassemia, out of them 547 thalassemia genes were determined. The detection rate was 48.8% (547/1120). 340 specimens were diagnosed as α thalassemia, and the detection rate was 30.6%, including 266 cases of --SEA/αα, 44 cases of -α3.7/αα, 12 cases of -α4.2/αα, 8 cases of ααQS/αα,. 3 cases of Hb H disease ( 2 cases of --SEA/-α3.7, 1 case of --SEA/-α4.2), 2 cases of ααCS/αα, 2 cases of ααWS/αα, 1 case of -α3.7/-α3.7, and 1 case of -α3.7/ααQS. Also, they contain 11 cases of rare α thalassemia, 8 kinds of rare types of α thalassemia mutations in combination, such as 4 cases of ααIVS-II-55 (T→G) in α1/αα, 1 case of ααIVS-I-62 (C→T) in α1/αα, 1 case of ααCD106（CTG→GTG）in α2/αα, 1 case of ααHBA2:c.-24C>G/αα, 1 case of ααIVS-II-55 (T→G) in α1/ααIVS-II-55 (T→G) in α1, 1 case of ααIVS-II-55 (T→G) in α1/ααIVS-II-119 (G;+CTCGGCCC) in α2, 1 case of ααIVS-II-88 (G→A) in α2/αα, and 1 case of --THAI/αα. Among them, 5 α mutation sites were first reported, namely ααIVS-I-62 (C→T) in α1, ααIVS-II-55 (T→G) in α1, ααIVS-II-119 (G; +CTCGGCCC ) in α2, ααIVS-II-88 (G→A) in α2 and ααCD106 (CTG→GTG) in α2; 2 α thalassemia mutation sites: ααHBA2: c.-24C>G and --THAI were detected again in the Chinese population, respectively. 188 specimens were diagnosed as ß thalassemia with a detection rate of 16.8%. Among them, 68 cases of ßIVS-II-654/ßN, 47 cases of ßCD41-42/ßN, 20 cases of ßCD17/ßN, 17 cases of ß-28/ßN, 7 cases of ßCD27-28/ßN, 7 cases of ßE/ßN, 3 cases of ßCD71-72/ßN and 2 cases of ßCD43/ßN. And 17 cases were diagnosed as rare ß thalassemia, 8 kinds of rare types were ß thalassemia mutations in combination. There were 4 cases of ßIVS-II-81 (C→T)/ßN, 3 cases of ßHb J-Bangkok/ßN, 3 cases of ßHb New York/ßN, 2 cases of ß-96 (G→T)/ßN, 2 cases of ßIVS-II-806 (G→C)/ßN, 1 case of ßCodons 8/9/ßN, 1 case of ßHb G-Coushatta/ßN, 1 case of ßIVS-II-827 (A→T)/ßN. Among them, 3 ß thalassemia mutation sites were reported for the first time, namely ß-96 (G→T), ßIVS-II-806 (G→C) and ßIVS-II-827 (A→T); it was found that in the Chinese population as ßCodons 8/9, ßHb G-Coushatta, ßHb J-Bangkok, ßHb New York, and ßIVS-II-81 (C→T), respectively. 19 cases were diagnosed as αß-complex thalassemia, out of which 15 types of thalassemia mutation combinations were detected. They contain 2 cases of rare αß-complex thalassemia, which are ααIVS-II-55 (T→G)/αα complex ßIVS-II-81 (C→T)/ßN, ααIVS-II-65 (G→A) in α1/αα complex ßHb G-Coushatta/ßN. CONCLUSION: The types of thalassemia gene mutations in Nanping area of Fujian province are genetically heterogeneous. The prevention and control strategies of thalassaemia in this area should be based on the prevention and treatment of common α thalassemia and ß thalassaemia. And the attention should be paid to the types of rare and unknown gene mutations using screening and testing method.

Toward NIR driven photocatalyst: Fabrication, characterization, and photocatalytic activity of ß-NaYF4:Yb(3+),Tm(3+)/g-C3N4 nanocomposite.

The ß-NaYF4:Yb(3+),Tm(3+)/g-C3N4 (NYT/C3N4) photocatalyst has been successfully fabricated by a stepwise method. Firstly, the advanced near-infrared (NIR) driven photocatalyst was characterized by X-ray diffraction, scanning electron microscopy, transmission electron microscopy, and UV-Vis-NIR diffuse reflectance spectroscopy. It was found that NYT/C3N4 photocatalyst consisted of uniform hexagonal phase NaYF4 nanocrystals with about 20nm diameter distributed on surface of g-C3N4 sheets, and the NYT/C3N4 composite exhibited strong near-infrared light absorption and the energy transfer from ß-NaYF4:Yb(3+),Tm(3+) to g-C3N4 was confirmed. Secondly, the photocatalytic activities of the catalysts were evaluated by the degradation of methyl blue dye and colorless phenol under the irradiation of 980nm laser. The results suggested that NYT/C3N4 nanocomposite is an advanced NIR-driven photocatalyst. Moreover the NYT/C3N4 photocatalyst showed good stability for photocatalytic decoloration of dye in the recycled tests. This study suggested a promising system to utilize the NIR energy of sunlight for photochemical and photoelectrical applications based on g-C3N4, which will contribute to the utilization of solar energy in the future.

Micromixer utilizing electrokinetic instability-induced shedding effect.

This paper presents a T-shaped micromixer featuring 45 degrees parallelogram barriers (PBs) within the mixing channel. The presented device obtains a rapid mixing of two sample fluids with conductivity ratio of 10:1 (sample concentration:running buffer concentration) by means of the electrokinetic instability-induced shedding effects which are produced when a direct current (DC) electric field of an appropriate intensity is applied. The presented device uses a single high-voltage power source to simultaneously drive and mix the sample fluids. The effectiveness of the mixer is characterized experimentally as a function of the applied electrical field intensity and the extent to which the PBs obstruct the mixing channel. The experimental results indicate that the mixing performance reaches 91% at a cross-section located 2.3 mm downstream of the T-junction when the barriers obstruct 4/5 of the channel width and an electrical field of 300 V/cm is applied. The micromixing method presented in this study provides a simple low-cost solution to mixing problems in lab-on-a-chip systems.

Application of electrokinetic instability flow for enhanced micromixing in cross-shaped microchannel.

This paper proposes a cross-shaped micromixer featuring a pair barrier within the mixing channel. The proposed device obtains a rapid mixing of two sample fluids by means of the electrokinetic instability-induced shedding effects which are produced when a DC electric field of an appropriate intensity is applied. The proposed device uses a single high-voltage power source to simultaneously drive and mix the sample fluids. The effectiveness of the mixer is characterized experimentally as a function of the applied electric field intensity and the extent to which a pair barrier obstruct the mixing channel. The experimental results indicate that the mixing performance reaches 96% at a cross-section located 1 mm downstream of the cross-junction when an electric field of 300 V/cm is applied. The micromixing method presented in this study provides a simple low-cost solution to mixing problems in lab-on-a-chip systems.