[Identification and pedigree analysis of ABO subgroup B303].

OBJECTIVE: To explore the molecular mechanism of a case of ABO discrepancies based on the results of blood group serology. METHODS: Five cases of the two-generation pedigrees were analyzed. ABO genotypes were determined using serological tests. DNA sequence analysis was performed on exon 6, exon 7 and intron 3 of the 5 cases to confirm the genotypes of a proband with B subgroup and 4 family members. RESULTS: There were 3 cases of subgroup AB3 and 1 case of subgroup B3 among the 5 family members. The genotypes were identified as A102/B303 and O02/B303, respectively. B303 differed from B101 by intron 3 point mutation (intron3 + 5G>A). CONCLUSION: The point mutation of intron 3 (intron 3+5G>A) is specific in B303.

Transformation of iodide by Fe(II) activated peroxydisulfate.

This work investigates the transformation of iodide (I-) by Fe(II)-activated peroxydisulfate (PDS). The transformation of I- into iodate (IO3-) is a two-step process, involving reactive iodine species, such as hypoiodous acid (HOI), as a key intermediate, and IO3- as the final product. In the first step, SO4•- produced by Fe(II)-activated PDS is mainly responsible for the transformation of I- into HOI. In the second step, Fe(IV) formed by the reaction of Fe(III) with PDS is required, to facilitate the further oxidation of HOI to IO3-. The disproportionation of HOI and the oxidation by PDS alone contribute negligibly to IO3- formation. The IO3- yield increases to a maximum, before decreasing gradually, with increased PDS and Fe(II) dosages. The transformation of I- into IO3- is favored by lower pH and higher temperature, due to the greater SO4•- production by the reaction of Fe(II) with PDS under these conditions. Humic acid, as a representative natural organic matter, scavenges the formed HOI to form iodinated disinfection byproducts, which largely inhibit the transformation of I- into IO3-. In addition, the transformation of I- into IO3- and iodinated disinfection byproducts by Fe(II) activated PDS was confirmed in the natural waters.

Clinical analysis of four serum tumor markers in 458 patients with ovarian tumors: diagnostic value of the combined use of HE4, CA125, CA19-9, and CEA in ovarian tumors.

PURPOSE: To investigate the diagnostic values of human epididymis protein 4 (HE4), carbohydrate antigen 125 (CA125), carbohydrate antigen 19-9 (CA19-9), and carcinoembryonic antigen (CEA) for ovarian tumors. METHODS: The participants were divided into three groups: 386 healthy women (control group), 262 patients with benign ovarian tumors (the benign group), and 196 patients with malignant pelvic tumors (the malignant group). The serum levels of HE4, CA125, CA19-9, and CEA were analyzed by electrochemiluminescent immunoassay. RESULTS: It showed that serum levels of HE4, CA125, CA19-9, and CEA of patients with malignant ovarian tumors were significantly higher than those in the control group and benign group (P<0.01). HE4 had a high specificity (96.56%) in malignant ovarian tumors. The tumor markers HE4, CA125, CA19-9, and CEA had a sensitivity of 63.78%, 62.75%, 35.71%, and 38.78%, respectively. The combined use of two or more tumor markers (parallel test) had a higher diagnostic sensitivity but lower specificity than a single tumor marker. The combined efficiency of HE4 and CA125 was the highest, with a sensitivity and specificity of 80.10% and 69.08%, respectively. HE4 and CA125 combined with the Risk of Ovarian Malignancy Algorithm provided an efficient means of screening and diagnosis of ovarian malignancies. The diagnostic sensitivity increased to 88.52% when three or four tumor markers were used but showed no significant difference compared with the combination of HE4 and CA125 (P>0.05). CONCLUSION: The combination of three or four tumor markers did not improve the diagnostic efficacy when compared with the combination of HE4 and CA125.

Emodin promotes the arrest of human lymphoma Raji cell proliferation through the UHRF1­DNMT3A­∆Np73 pathways.

Emodin is an active constituent found in the roots and rhizomes of numerous Chinese medicinal herbs. It exerts antitumor activity against Dalton's lymphoma in vivo, although the detailed mechanisms by which emodin induces apoptosis remains to be elucidated. The present study aimed to analyze the mechanisms underlying the response to emodin treatment. Using lymphoma Raji cells, an emodin­induced cell proliferating inhibition model was first established, then flow cytometry, western blotting, reverse transcription­quantitative polymerase chain reaction and luciferase reporter assay were performed. It was found that emodin decreased the percentage of Raji cell viability, induced apoptosis, and increased the activation of caspase 3, caspase 9 and poly (ADP­ribose) polymerase through the downregulation of ubiquitin­like protein containing PHD and RING domains 1 (UHRF1). The emodin­induced downregulation of UHRF1 led to an increase in the level of DNA methyltransferase 3A, which in turn inhibited the activity of p73 promoter 2 and decreased the levels of NH2­terminally truncated dominant­negative p73. The treatment of Raji cells with emodin combined with doxorubicin led increased cell death of Raji cells, indicating that emodin may sensitize Raji cells to doxorubicin­induced apoptosis.

[Molecular and Genetic Mechanism of Three Cases of Para-Bombay Blood Group].

OBJECTIVE: To explore molecular and genetic mechanism of 3 cases of para-Bombay blood group. METHODS: The bood samples of proband and family members were selected to identify their blood groups with conventional serologic methods, and salivary components carrying the ABH antigens were detected. The coding regions of FUT1 as well as exon 6 and 7 of the ABO gene were amplified using polymerase chain reaction(PCR), and the FUT1 gene was directly sequenced. RESULTS: All the 3 cases of proband were confirmed as para-Bombay blood group. Direct sequencing revealed h new2 (nt328G→A) and h1(nt 547 ΔAG) in FUT1 gene of the proband 1, and FUT1 genotype was h1/h new2. However, the genotypes of his parents were H/h1 and H/h new2, which were non-Bombay individuals. The FUT1 genotypes of proband 2 and 3 were h1h2 (nt 547 ΔAG) and h1h2 (nt 880 ΔTT), respectively. CONCLUSION: The technology of molecular biology can be used to detect the base deletion mutations in FUT1 gene, which contributes to the analysis of molecular and genetic mechanism of para-Bombay blood group.

Transcriptome profiling of the cancer, adjacent non-tumor and distant normal tissues from a colorectal cancer patient by deep sequencing.

Colorectal cancer (CRC) is one of the most commonly diagnosed cancers in the world. A genome-wide screening of transcriptome dysregulation between cancer and normal tissue would provide insight into the molecular basis of CRC initiation and progression. Compared with microarray technology, which is commonly used to identify transcriptional changes, the recently developed RNA-seq technique has the ability to detect other abnormal regulations in the cancer transcriptome, such as alternative splicing, novel transcripts or gene fusion. In this study, we performed high-throughput transcriptome sequencing at ~50× coverage on CRC, adjacent non-tumor and distant normal tissue. The results revealed cancer-specific, differentially expressed genes and differential alternative splicing, suggesting that the extracellular matrix and metabolic pathways are activated and the genes related to cell homeostasis are suppressed in CRC. In addition, one tumor-restricted gene fusion, PRTEN-NOTCH2, was also detected and experimentally confirmed. This study reveals some common features in tumor invasion and provides a comprehensive survey of the CRC transcriptome, which provides better insight into the complexity of regulatory changes during tumorigenesis.