Objective To establish a known HPA/HLA genotype platelet donor database in Nanjing,analyze the poly-morphism of HPA-1～6w,-15 and HLA-A,-B and evaluate the matching probability and appropriate capacity of the database for platelet matching transfusion.Methods HPA-1～6w,-15 and HLA-A,-B were genotyped by PCR-SSP and PCR-SBT,respectively.The allele frequency and haplotype frequency of HPA-1～6w,-15 and HLA-A,-B were calculated with SHEsis software,and then the matching probability and appropriate capacity were obtained according to the haplotype frequencies.Results The population genetic polymorphisms data of HPA-1～6w,-15 and HLA-A,-B in Nanjing were obtained.Accord-ing to the subsequent calculating,without considering ABO blood type,in a database size of 527 donors,a patient with hap-lotype frequency＞0.001 has approximate 95％probability to achieve matching of HPA-1～6w,-15 genotype.A database with a total size of 1 875 donors can afford the patient with haplotype frequency＞0.001 to find at least 1 HLA-A,-B matched donor in 95％probability.Conclusion We established a local platelet donor database with known HPA and HLA genotype,which also provided important data support for the subsequent construction,maintenance and clinical application of the data-base.

OBJECTIVE: To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup. METHODS: The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis. RESULTS: Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B.01. This BW.11 allele was also identified in the proband's father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes. CONCLUSION The c.695T>C substitution of the ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.
ABO Blood-Group System/genetics* ; Alleles ; Female ; Genotype ; Humans ; Male ; Pedigree ; Phenotype

【Objective】 To analyze the allele frequencies of the human platelet antigens 1-29 system (HPA-1-29bw) in Nanjing Han platelet donors, so as to provide references for compatible platelet transfusion. 【Methods】 HPA genotyping was performed by Sanger sequencing method in 900 Nanjing Han regular platelet donors who donated at Jiangsu Province Blood Center from February to September 2019. The frequencies of alleles and genotype were calculated using direct counting method. 【Results】 The HPA allele frequencies in Nanjing Han platelet donors were HPA-1a 0.9950, 1b 0.0050, 2a 0.9467, 2b 0.0533, 3a 0.5850, 3b 0.4150, 4a 0.9989, 4b 0.0011, 5a 0.9822, 5b 0.0178, 6a 0.9828, 6b 0.0172, 11a 0.9994, 11b 0.0006, 15a 0.5317, 15b 0.4683, 21a 0.9928 and 21b 0.0072, respectively. Only a allele was detected in HPA-7-10w, -12-14w, -16-20w and -22-29bw systems.The highest mismatch rate of HPA genes in 900 platelet donors was HPA-15 system, followed by HPA-3 system, with the rate of 37.40%(337/900) and 36.77%(331/900), respectively. One heterozygote was detected in HPA-11w system. 【Conclusion】 The chracteristics of HPA alleles frequencies in Nanjing Han platelet donors is that HPA-15 and HPA-3 are the most common heterozygotes, which should be paid attention to in local clinical transfusion.

OBJECTIVE: To screen for Vel- rare blood type donors and determine the frequency of SMIM1 c.64_80del allele in Yili Prefecture of Xinjiang, China. METHODS: DNA pooling and PCR-sequence-specific primers (PCR-SSP) was conducted to screen individuals carrying the SMIM1 c.64_80del variant, and Sanger sequencing of SMIM1 exon 3 was carried out to verify the genotype of those with the variation. SMIM1 intron 2 was also sequenced to identify single nucleotide polymorphisms (SNPs) that may affect the expression of Vel antigen. RESULTS: Among 3328 blood donors, 14 were identified as heterozygotes for the SMIM1 c.64_80del allele, its allele frequency was 0.21%; no homozygous SMIM1 c.64_80 deletions was found. For SNP rs1175550, all of the 14 individuals had an AA genotype, among whom 5 carried heterozygous 7111ins GCA variant in intron 2. CONCLUSION The allelic frequency of SMIM1 c.64_80del in Yili area is approximately 0.21%, which is reported for the first time.
Alleles ; Blood Group Antigens/genetics* ; China ; Gene Frequency ; Genetic Variation/genetics* ; Genotype ; Humans ; Membrane Proteins/genetics* ; Polymorphism, Single Nucleotide/genetics*

Objective To analyze the 10-year survival outcome and failure patterns for patients with nasopharyngeal carcinoma (NPC) after intensity-modulated radiotherapy (IMRT),aiming to provide reference for optimized treatment for NPC.Methods Clinical data of 866 patients with NPC receiving IMRT from January 2001 to December 2008 were retrospectively analyzed.Survival analysis was performed using the Kaplan-Meier estimator.Univariate analysis was carried out by log-rank test and multivariate analysis was performed using Cox proportional hazards model.Results The median follow-up time was 132 months.The 10-year local recurrence-free survival (LRFS),distant metastasis-free survival (DMFS),progression-free survival (PFS) and disease specific survival (DSS) were 92.0％,83.4％,75.7％ and 78.6％,respectively.A total of 210 patients died including 124 patients (59.0％) from distant metastasis,which was the primary cause of death,and 47 (22.3％) from local regional recurrence.Independent negative factors of DSS included age＞50 years (P=0.00),LDH ≥ 245 IU/L (P=0.00),Hb＜ 120 g/L (P=0.01),T2-T4 staging (P=0.00),N1-N3 staging (P=0.00) and GTV-nx＞20 cm3(P=0.00).The 10-year LRFS,DMFS and DSS of stage Ⅱ NPC patients did not significantly differ after IMRT alone and chemoradiotherapy (P=0.83,0.22,0.23).For patients with stage Ⅲ NPC,the 10-year LRFS and DSS in the chemoradiotherapy arm were significantly higher than those in the IMRT alone (P=0.01,0.01),whereas no statistical significance was observed in the DMFS between two groups (P=0.14).The overall survival of stage Ⅳa+Ⅳb NPC patients is relatively poor.Conclusions IMRT can improve the long-term survival of NPC patients.Distant metastasis is the primary failure pattern.Patients with stage Ⅰ-Ⅱ NPC can obtain satisfactory survival outcomes after IMRT alone.The addition of chemotherapy can further enhance the LRFS and DSS of stage Ⅲ NPC patients.However,the optimal therapeutic strategy remains to be urgently investigated for stage a+ Ⅳb NPC patients.

As a kind of intervention measures of traditional Chinese medicine, acupuncture-moxibustion is highly adopted on global clinical practice. Even though the global clinical trial registration system was established more than 10 years ago, the proportion of acupuncture-moxibustion clinical trial registration is still very low; and it is very problematic on the methodological quality and report quality in the published acupuncture-moxibustion clinical trials. In order to manage particularly the acupuncture-moxibustion clinical trials, China Academy of Chinese Medical Sciences, collaborated with China Association of Acupuncture and Moxibustion and World Federation of Acupuncture Societies, established the Acupuncture-Moxibustion Clinical Trail Registry (AMCTR). AMCTR is a secondary registry platform affiliated to the Chinese Clinical Trial Registry (ChiCTR) and WHO International Clinical Trials Registry Platform (ICTRP), specifically for the acceptance and management of clinical trials in the field of acupuncture and moxibustion. It is a nonprofit academic organization, located in China Academy of Chinese Medical Sciences.

OBJECTIVETo analyze an individual with SMIM1 c.64_80 heterozygous deletional mutation and his family members.

METHODSBased on the molecular basis of Vel negative blood type, PCR primers specific for SMIM1 wild-type allele and c.64_80del allele were designed. PCR-sequence specific primer (PCR-SSP) and Sanger sequencing were employed to determine the genotype of all subjects. Inheritance of the Vel blood group system was investigated by pedigree analysis.

RESULTSPCR-SSP and DNA sequencing demonstrated that the proband was heterozygous for the SMIM1 c.64_80del allele. Pedigree investigation showed that his father had the same mutation, while his mother and elder sister were of wide type. No individual with homozygous c.64_80del allele was found.

CONCLUSIONPCR-SSP and DNA sequencing confirmed that the proband was heterozygous for the c.64_80del mutation. The mutation inherits form his father.

Adult ; Blood Group Antigens ; genetics ; Female ; Gene Deletion ; Genetic Testing ; Homozygote ; Humans ; Male ; Membrane Proteins ; genetics ; Pedigree ; Sequence Analysis, DNA

Objective To investigate the protective effects and possible mechanism of hydrogen sulfide (H2S) against oxidative stress injury induced by hydrogen peroxide (H2O2) in retinal ganglion cell-5 (RGC-5).Methods RGC-5 cells were divided into four groups:RGC-5 group (normal control group),RGC-5 + H2O2 (RGC-5 were cultured in 500 μmol · L-1 H2O2 for 24 hours) group,RGC-5 + NaHS (RGC-5 were cultured in 50 μmol · L-1 NaHS for 30 minutes) + H2O2 (RGC-5 were cultured in 500 μmol · L-1 H2 O2 for 24 hours) group,and RGC-5 + NaHS (RGC-5 were cultured in 50 μmol · L-1 NaHS for 30 minutes) group.Western blots were applied to measure the expression of cytochrome c (Cyt.c) and optic atrophy 1 (OPA1).The fluorescent dye JC-1 assay was chosen to detect the mitochondrial membrane potential (△Ψm).Furthermore,transmission electron microscope was used to observe the morphology of mitochondria.Results Compared with RGC-5 group,the expression of Cyt.c in RGC-5 + H2O2 group decreased in mitochondria,and increased in cytoplasm (all P ＜ 0.05),but there was no statistical difference between RGC-5 group and RGC-5 + NarHS + H2O2 group (all P ＞0.05).Compared with RGC-5 group,the expression of Cyt.c in RGC-5 + NaHS group increased in mitochondria,and decreased in cytoplasm (all P ＜ 0.05).Compared with RGC-5 group,the expression of OPA1 in RGC-5 + H2O2 group decreased in mitochondria,and increased in cytoplasm (all P ＜ 0.05).In RGC-5 + NaHs + H2O2 group and RGC-5 + NaHS group,the expression of OPA1 within and outside the mitochondria had no significant difference compared with RGC-5 group (all P ＞ 0.05).Compared with other three groups,the mitochondrial membrane potential in RGC-5 + H2O2 group obviously decreased,but there was no statistical difference among other three groups (P ＞ 0.05).The mitochondria were globular swelled in RGC-5 group,but in other three groups,the mitochondria had slightly swelled.Conclusion H2S can protect the mitochondrial morphology and functions of RGC? 5 from H2O2-induced oxidative stress via preventing OPA1 release from mitochondria.

Background: Salvage treatment for locally recurrent nasopharyngeal carcinoma (NPC) is complicated and relatively limited. Radiotherapy, combined with effective concomitant chemotherapy, may improve clinical treatment out?comes. We conducted a phase II randomized controlled trial to evaluate the efcacy of intensity?modulated radio?therapy with concomitant weekly cisplatin on locally recurrent NPC. Methods: Between April 2002 and January 2008, 69 patients diagnosed with non?metastatic locally recurrent NPC were randomly assigned to either concomitant chemoradiotherapy group (n = 34) or radiotherapy alone group(n= 35). All patients received intensity?modulated radiotherapy. The radiotherapy dose for both groups was 60 Gy in 27 fractions for 37 days (range 23–53 days). The concomitant chemotherapy schedule was cisplatin 30 mg/m2 by intravenous infusion weekly during radiotherapy. Results: The median follow?up period of all patients was 35 months (range 2–112 months). Between concomitant chemoradiotherapy and radiotherapy groups, there was only significant difference in the 3?year and 5?year overall survival (OS) rates (68.7% vs. 42.2%, P = 0.016 and 41.8% vs. 27.5%, P = 0.049, respectively). Subgroup analysis showedthat concomitant chemoradiotherapy significantly improved the 5?year OS rate especially for patients in stage rT3–4 (33.0% vs. 13.2%, P = 0.009), stages III–IV (34.3% vs. 13.2%, P = 0.006), recurrence interval >30 months (49.0% vs. 20.6%,P= 0.017), and tumor volume >26 cm3 (37.6% vs. 0%, P = 0.006). Conclusion: Compared with radiotherapy alone, concomitant chemoradiotherapy can improve OS of the patients with locally recurrent NPC, especially those with advanced T category (rT3–4) and stage (III–IV) diseases, recurrence intervals >30 months, and tumor volume >26 cm3.

OBJECTIVETo explore the acute toxic effects and early curative efficacy of concurrent chemotherapy with different doses of cisplatin for Chinese nasopharyngeal carcinoma (NPC) patients using intensity-modulated radiation therapy (IMRT).

METHODSEighty-eight untreated stage II/III nasopharyngeal cancer patients receiving IMRT and concurrent cisplatin were randomized into two groups receiving different doses of cisplatin. The standard group (DDP 100 mg/m² q3w, n = 44) and the study group (DDP 80 mg/m² q3w, n = 44). The acute toxic effects and 3-month therapeutic efficacy (early curative efficacy) in patients of the two groups who completed treatment were compared and analyzed.

RESULTSDuring the treatment, grade III-IV acute toxic effects were observed in more patients of the standard group compared with that in the study group (72.7% vs. 59.1%), but the difference was statistically not significant (P = 0.18). Significant difference was only seen in upper gastrointestinal reaction (P = 0.01) and anemia (P = 0.03) among the non-hematological and hematological adverse events. No significant differences in other adverse events were found between the two groups (P < 0.05). Three months after the completion of radiotherapy, 80 cases of the whole group achieved complete remission (CR) in the nasopharynx and neck MRI. In both the standard group and study group, 40 patients had CR and 4 patients had residual disease, respectively, showing a non-significant difference (P = 0.51) between the two groups.

CONCLUSIONSDuring the IMRT course, patients received cisplatin 80 mg/m² q3w, experienced less grade III-IV acute toxic effects. Concurrent chemoradiotherapy with cisplatin 80 mg/m² q3w or 100 mg/m² q3w, demonstrate similar early curative efficacy in II/III stage NPC patients in endemic regions of China.

Anemia ; Antineoplastic Agents ; administration & dosage ; therapeutic use ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Carcinoma ; Chemoradiotherapy ; China ; Cisplatin ; administration & dosage ; therapeutic use ; Humans ; Nasopharyngeal Neoplasms ; therapy ; Neoplasm Staging ; Prospective Studies ; Radiotherapy, Intensity-Modulated ; Remission Induction