Hb Laibin [ß96(FG3)Leu→Arg; HBB: c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family.

We report a novel ß chain hemoglobin (Hb) variant found in a Chinese family. A high level of Hb F was observed on capillary electrophoresis (CE). However, high performance liquid chromatography (HPLC) showed a high level of Hb A2. DNA sequencing revealed a single base substitution (T>G) at codon 96 of exon 2 of the ß-globin gene. This alters the normally encoded leucine to arginine [ß96(FG3)Leu→Arg; HBB: c.290T>G] that we propose to name Hb Laibin for the region of origin of the proband. The pedigree study showed that it was inherited from his mother.

Hb Matera (HBB: c.167 T > A): A Second Case Detected in a Pregnant Chinese Woman by the Capillary Electrophoresis Method.

Hb Matera (HBB: c.167 T > A) is an unstable ß-globin gene variant with an ATG > AAG substitution at codon 55. Its coelution with Hb A2 on high performance liquid chromatography (HPLC) makes it difficult to discriminate between Hb Matera and Hb E (HBB: c.79 G > A) that also coelutes with Hb A2 in this method. However, we found that capillary electrophoresis (CE) was able to detect Hb Matera and discriminate it from Hb E, based on the quantification of the peaks and on hematological parameters.

Detection of the Unstable Hb Köln (HBB: c.295G>A) by a Capillary Electrophoresis Method.

Hb Köln (HBB: c.295G>A) is an unstable ß-globin gene variant with a GTG>ATG substitution at codon 98. This variant is quite frequent in Europe and the USA but rare in China. It can easily be misdiagnosed as Hb Constant Spring (Hb CS; HBA2: c.427T>C) by high performance liquid chromatography (HPLC), but detection and quantification of both Hb Köln and degraded Hb Köln by capillary electrophoresis (CE) are possible. Thus, we concluded that CE was the preferred method for Hb Köln detection.

Artesunate exerts an anti-immunosuppressive effect on cervical cancer by inhibiting PGE2 production and Foxp3 expression.

Artesunate (ART), derived from a common traditional Chinese medicine, has beeen used an antimalarial for several years. In this study, the effect and mechanism of ART on anti-human cervical cancer cells was examined. The level of prostaglandin E2 (PGE2 ) and the population of CD4+CD25+Foxp3 regulatory T cells (Treg) in peripheral blood were detected by flow cytometry. In vivo antitumor activity was investigated in mice with cervical cancer by the subcutaneous injection of various concentrations of ART. The concentrations of PGE2 in the supernatants of CaSki cells were measured using an ELISA kit. Cyclooxygenase-2 (COX-2) and Foxp3 expression were determined using quantitative polymerase chain reaction (qPCR) and western blot analysis. The effect of ART on the viability of CaSki and Hela cells was evaluated with a 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay. It was identified that the level of PGE2 and the population of CD4+CD25+Foxp3 Treg cells in the peripheral blood were significantly higher in cervical cancer patients and mice with cervical cancer. ART was capable of inhibiting orthotopic tumor growth, which correlated with a decrease in the level of PGE2 and the percentage of Treg cells in mice with cervical cancer. Furthermore, ART decreased COX-2 expression and the production of PGE2 in CaSki and Hela cells. Notably, the supernatants of CaSki cells treated with ART lowered the expression of Foxp3 in Jurkat T cells, which was capable of being reversed by exogenous PGE2 . Our data revealed that ART may elicit an anti-tumor effect against cervical cancer by inhibition of PGE2 production in CaSki and Hela cells, which resulted in the decrease of Foxp3 expression in T cells. Therefore, ART may be an effective drug for immunotherapy of cervical cancer.

Enantioselective organocatalytic oxa-Michael addition of oximes to ß-CF3-ß-disubstituted nitroalkenes: efficient synthesis of ß-amino-α-trifluoromethyl alcohols.

An enantioselective oxa-Michael addition of oximes to ß-CF3-ß-disubstituted nitroalkenes catalyzed by a chiral bifunctional cinchona alkaloid-based thiourea has been developed. A variety of trifluoromethylated oxime ethers possessing a tetrasubstituted carbon stereocenter were obtained in good yields with high enantioselectivities.

[Expression and Clinical Significance of Serum MiR-370 and MiR-203 in Patients with Acute Myeloid Leukemia].

OBJECTIVE: To investigate the expression of microRNA-370 (miR-370) and microRNA-203 (miR-203) in the serum of patients with acute myeloid leukemia(AML), and to analyze its clinical diagnosis and prognostic significance. METHODS: 57 patients with acute myeloid leukemia were enrolled as experimental group, and 21 healthy people were enrolled as control group. The fasting venous blood of the personal in the two groups were collected. The expression of miR-370 and miR-203 of the personal in each groups were detected by real-time fluorescent quantitative PCR. The receiver operating characteristic (ROC) curve was plotted to detected the diagnostic values of serum miR-370, miR-203, and the Kaplan-Meier method was used to estimate the relationship between expression and overall survival of the patients. RESULTS: Compared with healthy controls, serum miR-370 expression was significantly decreased in AML patients(P<0.05), and serum miR-203 expression was also significantly decreased (P<0.05). ROC curve analysis showed that the expression of serum miR-370 and miR-203 could be used to distinguish acute myeloid leukemia and healthy people. The area under the ROC curve of miR-370 was 0.909, and the sensitivity and specificity were 91.46% and 100.00%, respectively. The area under the ROC curve of miR-203 was 0.895, and the sensitivity and specificity were 83.45% and 89.71%, respectively. Serum levels of miR-370 and miR-203 were closely related to overall survival in AML patients. CONCLUSION: The expression of miR-370 and miR-203 is decreased in the serum of patients with AML and may be a new markers for the diagnosis and prognosis of AML.

[Analysis of Gene Mutation Types in 920 Cases of Thalassemia].

OBJECTIVE: To investigate the gene mutation types and distribution features of α- and ß-thalassemia in reproductive population of Xing bin district of Guangxi Lai bin city so as to provide the scientific basis for formulating the preventive and control measures. METHODS: The high risk population with thalassemia in 6 498 people of child-bearing age admited in department of antenatal care of our hospital from January 2017 to December 2017 were screened by blood cell test and hemoglobin electrophoresis. The gene mutation types and mutation frequency in αandßthalassemia positive cases were diagnosed and analyzied by Gap-PCR and PCR-RDB. RESULTS: The inital screening showed that there were 1 432 cases of thalassemia positive accounting for 22.04%; the gene diagnoses showed that there were 920 cases of thalassemia gene positive accounting for 14.16%. Among 920 cases, 593 cases were α-thalassemia accounting for 64.45% (593/920); the gene mutation types were 19 kinds. The α-deletion type gene was mainly --SEA (47.22%), the α-mutatin type gene was mainly -αcsα(13.66%); 260 cases were the ß-thalassemia accounting for 28.26%, (260/920), the gene mutation types were 9 kinds, out of which the ß41-42 ßN was main (50.38%), followed by ß17/ßN (38.08%)，there were 2 kinds of gene mutation types accounted for 88.46%; the αß-thalassemia numbered 67 cases (7.28%), the mutation types were mainly --SEA/ß41-42 (17.91%) and -α3.7/ß41-42 (17.91%). CONCLUSION: The α-and ß-thalassemia mostly observed in the childbearing population of Laibin city Xinbin district possess the gene comblexity and diversity as well as the significant genetic heterogeneily.The results of this study provide the reference basis for the prevention of thalassemia and eugenic works.

Highly sensitive sensors based on the immobilization of tyrosinase in chitosan.

A novel tyrosinase biosensor has been developed for a subpicomolar detection of phenols, which is based on the immobilization of tyrosinase in a positively charged chitosan film on a glassy carbon electrode. It was found that chitosan cross-linked with (3-aminooryloxypropyl) dimethoxymethylsilane is beneficial for the immobilization of tyrosinase. The large microscopic surface area and porous morphology of chitosan matrix lead to high enzyme loading, and the enzyme entrapped in this matrix can retain its bioactivity and the positively charged surface of chitosan can also display a good anti-interference ability to the substances with positive charge. Hence, the resulting sensor offers a high-sensitivity (150 nA.nM(-1)) for the monitoring of phenols, and the detection limit is as low as 5.0 x 10(-11) M. Its response time is less than 2 s reaching 95% of the steady-state value. It may retain 75% of the activity for at least 70 days.

MED12 mutations in human diseases.

The Mediator Complex plays key roles in activating gene transcription in eukaryotes. Mediator of RNA polymerase II transcription subunit 12 homolog (MED12) is a subunit of the Mediator Complex and regulates the activity of the complex. MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer. This review will discuss the biological function of MED12 and the relationship between MED12 mutations and diseases.