This study was aimed to discriminate the alleles in the HLA-C*07:01:01G and HLA-C*07:02:01G groups and analyze their associations with HLA-B locus. Samples previously typed as HLA-C*07:01:01G and HLA-C*07:02:01G were collected. The nucleotide sequences in exons 1 to 7 of the HLA-C locus were sequenced by polymerase chain reaction sequence-based typing (PCR-SBT) and HLA-B genotyping was also preformed by PCR-SBT in these samples. The results showed that 4 samples (30.8%) were confirmed as HLA-C*07:01:01 and 9 samples (69.2%) were HLA-C*07:06 among 13 samples previously typed as HLA-C*07:01:01G. Linkage disequilibrium (LD) analysis showed that HLA-C*07:06 allele was strongly related with HLA-B*44:03. All samples were typed as C*07:02:01 among 102 individuals previously typed as C*07:02:01G. LD analysis showed that C*07:02:01 was strongly related with HLA-B*51:01, B*46:01, B*39:01, B*40:01, B*38:02, B*15:02 alleles. It is concluded that HLA-C*07:01:01 and HLA-C*07:06 alleles are confirmed in the HLA-C*07:01:01G group and HLA-C*07:02:01 is a preferred allele in the HLA-C*07:02:01G.
Alleles ; Base Sequence ; Exons ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; Humans ; Molecular Sequence Data ; Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA

OBJECTIVETo analyze the main death causes among infants in Guangzhou in 2010-2013 and to provide an objective and scientific basis for risk communication of public health emergencies in the future.

METHODSDescriptive epidemiological method was used to analyze the death causes among infants reported in Guangzhou from the National Death Registration Reporting Information System. The death causes among infants were classified by the 10th international classification of diseases (ICD-10). The constitution and rank order of death causes among infants were analyzed according to the underlying causes of deaths.

RESULTSA total of 4 880 cases of infant deaths were reported in Guangzhou from 2010 to 2013 and infant deaths in floating population were 1.8 (3 135/1 745) times of registered population. The deaths of male infants were 1.73 (3 094/1 786) times of female infants. The neonatal group accounted for 52.32% (2 553/4 880) of total infant deaths and early neonatal group accounted for 64.86% (1 656/2 553) of total neonatal deaths. The top five causes of infant deaths followed by perinatal diseases, congenital malformations, respiratory diseases (mainly pneumonia), accidental deaths and communicable diseases. The mortality ratios were respectively 44.12% (2 153 cases) , 24.73% (1 207 cases), 6.86% (335 cases), 3.48% (170 cases), 3.01% (147 cases) , and no vaccine-related death case was reported.

CONCLUSIONThe primary cause of infant deaths in Guangzhou 2010-2013 was perinatal diseases.

Cause of Death ; China ; Communicable Diseases ; Congenital Abnormalities ; Female ; Humans ; Infant ; Infant Death ; Infant Mortality ; Infant, Newborn ; Male ; Perinatal Mortality ; Respiratory Tract Diseases

BACKGROUNDSpinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders that primarily cause the degeneration in the cerebellum, spinal cord, and brainstem. We study the clinical characteristics, radiological features and gene mutation in Chinese families with SCAs.

METHODSIn this study, we investigated 10 SCAs Chinese families with SCA1, SCA3/Machado-Joseph disease (MJD), SCA7, SCA8. There were 27 people who were genetically diagnosed as SCA, of which 21 people showed clinical symptoms, and 6 people had no clinical phenotype that we called them presymptomatic patients. In addition, 3 people with cerebellar ataxia and cataracts were diagnosed according to the Harding diagnostic criteria but failed to be recognized as SCAs on genetic testing. Clinical characteristic analyses of each type of SCAs and radiological examinations were performed.

RESULTSWe found that SCA3/MJD was the most common subtype in Han population in China, and the ratio of the pontine tegmentum and the posterior fossa area was negatively correlated with the number of cytosine-adenine-guanine (CAG) repeats; the disease duration was positively correlated with the International Cooperative Ataxia Rating Scale score; and the CAG repeats number of abnormal alleles was negatively correlated with the age of onset.

CONCLUSIONSCollectively our study is a systematic research on SCAs in China, which may help for the clinical diagnosis and prenatal screening of this disease, and it may also aid toward better understanding of this disease.

Adult ; DNA Repeat Expansion ; genetics ; Female ; Humans ; Machado-Joseph Disease ; genetics ; pathology ; Male ; Mutation ; genetics ; Spinocerebellar Ataxias ; genetics ; pathology ; Trinucleotide Repeat Expansion ; genetics

Objective:To compare the efficacy of stereotactic body radiotherapy(SBRT) and surgery in treating intrapulmonary recurrence of non-small cell lung cancer (NSCLC) after radical surgery.Methods:A retrospective analysis was conducted on NSCLC patients, who underwent radical surgery at the Cancer Hospital Affiliated to University of Chinese Academy of Sciences from November 2012 to December 2018 and then received SBRT or secondary surgery because of postoperative intrapulmonary recurrence. The survival rates of these patients were calculated using the Kaplan-Meier method. The comparison between the two groups was made using the Log-rank method, and the univariate and multivariate analysis was made using the Cox regression method.Results:Among 62 eligible patients, 33 received SBRT and 29 received secondary surgery, and they were divided into the SBRT group and the surgery group accordingly. For the SBRT and surgery groups, the median follow-up time was 45.8 months and 37.4 months, the 3-year locoregional control rate (LRCR) 79.8% and 90.2%, respectively ( P > 0.05), the progression-free-survival (PFS) 58.5% and 42.3%, respectively ( P >0.05), and the overall survival (OS) 78.0% and 85.5%, respectively ( P >0.05). The multivariate analysis suggested that treatment method, Charlson comorbidity index (CCI), and adjuvant drug therapy were independent prognostic factors for PFS ( P = 0.027, 0.013, 0.001). Conclusions:The efficacy of SBRT and surgery is comparable for patients with intrapulmonary recurrence of NSCLC after radical surgery.

OBJECTIVETo investigate the role of epidermal growth factor receptor (EGFR) signaling pathway in bronchial epithelial actin stress fiber (F-actin) rearrangement induced by house dust mite (HDM).

METHODSNormal human bronchial epithelial cells (16HBE) were stimulated with HDM with or without pretreatment with AG-1478, an EGFR inhibitor. The levels of phospho(p)-EGFR, F-actin, E-cadherin and β-catenin in the cell cultures were detected with Western blotting. The localizations of F-actin, E-cadherin and β-catenin in the bronchial epithelial cells were determined with immunofluorescence assay, and the transmembrane electrical resistance (TER) and FITC-dextran flux (FITC-DX) in the cells were measured to assess the barrier function of the bronchial epithelia.

RESULTSHDM stimulation of the cells for 10 min resulted in significantly increased p-EGFR expression (P<0.05) without causing obvious changes in the expression of E-cadherin (P>0.05) or β-catenin (P>0.05). Immunofluorescence assay revealed delocalization of E-cadherin and β-catenin in HDM-treated 16HBE cells, shown by their diffusion from the cell membrane to the cytoplasm. In HDM-treated cells, the TER was significantly decreased to (70.00∓4.33)% and the FITC-DX was significantly increased to (115.98∓4.34)%; Inhibition of EGFR reversed the delocalization of E-cadherin and β-catenin, improved the TER to (90.00∓3.75)% and lowered the FITC-DX to (101.10∓2.10)%. HDM induced increased expression and rearrangement of F-actin, which was obviously inhibited by pretreatment of the cells with AG-1478 (P<0.05).

CONCLUSIONEGFR signaling pathway mediates HDM-induced F-actin rearrangement in human bronchial epithelial cells to contribute to epithelial barrier dysfunction.

OBJECTIVETo investigate the mRNA expression and promoter methylation status of p73 gene in the peripheral blood of children with Wilms' tumor (WT), and their relationship.

METHODSForty-five children with WT were selected as the case group, and 15 sex- and age- matched children (without malignancies) who visited the hospital for physical examination or other reasons were selected as the control group. Peripheral blood was collected from both groups. Real-time quantitative PCR and methylation-specific PCR were used to determine the mRNA expression level and promoter methylation status of p73 gene. Their relationship with clinicopathological features and the effect of promoter methylation on mRNA expression of p73 gene were analyzed in the case group.

RESULTSThe relative quantity (RQ) of p73 mRNA in the case group was significantly higher than in the control group (3.2 ± 0.9 vs 1.6 ± 1.1; P<0.01). The positive rate of p73 gene promoter methylation in the case group was significantly lower than in the control group (20% vs 73%; P<0.01). In the case group, the RQ of p73 mRNA was significantly higher in children with methylated p73 gene promoter than in those with unmethylated p73 gene promoter (P<0.01). In children with methylated p73 gene promoter, the RQ of p73 mRNA was significantly higher in the case group than in the control group (P<0.01). In children with unmethylated p73 gene promoter, there was no significant difference in RQ of p73 mRNA between the case and control groups (P=0.810).

CONCLUSIONSAberrant promoter methylation of p73 gene in peripheral blood is one of the gene expression regulations in children with WT, and it is related to the onset and development of WT. The p73 gene may play a role as oncogene in WT patients with p73 gene promoter methylation and mRNA overexpression is associated with promoter methylation status of p73 gene.

Child, Preschool ; DNA Methylation ; DNA-Binding Proteins ; genetics ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Infant ; Kidney Neoplasms ; genetics ; Male ; Nuclear Proteins ; genetics ; Promoter Regions, Genetic ; RNA, Messenger ; blood ; Tumor Protein p73 ; Tumor Suppressor Proteins ; genetics ; Wilms Tumor ; genetics

Genotype ; Hepatitis B virus ; genetics ; Hepatitis B, Chronic ; physiopathology ; virology ; Humans ; T-Lymphocytes, Cytotoxic

OBJECTIVETo investigate the recombination events between human leukocyte antigen (HLA) loci within two families.

METHODSIdentification of HLA-A, -C, -B, -DRB1 and -DQB1 loci was firstly carried out using polymerase chain reaction-sequence specific oligonucleotide. Then HLA high resolution typing was performed using polymerase chain reaction sequencing-based typing. The recombination between HLA loci was identified by family genetic analysis. The parentage possibility was analyzed by short tandom repeat technique.

RESULTSRecombination between the HLA-A and C loci was identified within two families. One individual inherited a paternal haplotype that was the result of a recombination event between the father's HLA-A and -C loci on his chromosomes. The other individual inherited a maternal haplotype that was the result of a recombination event between the mother's HLA-A and -C loci. The high parentage possibilities were obtained in the family members.

CONCLUSIONThe recombination events of HLA-A and -C have been found in two Chinese families, which may help further study on the mechanism of HLA recombination.

Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Ethnic Groups ; genetics ; Female ; Genetic Loci ; genetics ; HLA-A Antigens ; genetics ; HLA-C Antigens ; genetics ; Haplotypes ; genetics ; Humans ; Male ; Pedigree ; Recombination, Genetic ; genetics

OBJECTIVETo analyze the sequence of the exons 2-4 of human leukocyte antigen (HLA) novel allele HLA-B*15:129.

METHODSDNA of the proband was extracted from whole blood by commercial DNA extraction kit. The amplification for HLA-B exons 2-4 was performed separately by polymerase chain reaction (PCR) with allele group specific primers. The PCR products were digested with enzymes and then directly sequenced for exons 2-4 of HLA-B locus in both directions.

RESULTSSequencing results showed the HLA-B alleles of the proband included B*07:02 and a novel allele. The sequence of the novel allele has been submitted to GenBank (accession no. EF473219) and the allele has been officially named B*15:129 by the WHO Nomenclature Committee. Comparing with the HLA-B*15:01:01:01, the sequence of exons 2-4 of HLA-B*15:129 showed three nucleotide difference in exon 3 at positions 362 and 363 from GG to AT and positions 369 from C to T, which resulted in an amino acid change from Arg to Asn at codon 97.

CONCLUSIONA novel HLA-B allele was identified and has been officially named B15:129 by the WHO Nomenclature Committee.

Alleles ; Base Sequence ; DNA Primers ; Exons ; HLA-B Antigens ; genetics ; Humans ; Male ; Molecular Sequence Data ; Molecular Typing ; Polymerase Chain Reaction

This study was aimed to investigate the molecular genetics basis of a novel allele HLA-A * 2459 in Chinese population. DNA was extracted from whole blood by PEL-FREEZ DNA extraction kit. The amplification of HLA-A exons 2 - 4 of the proband was preformed by allele specific primer PCR and the amplified product was sequenced bidirectionally with primers. The sequencing results showed HLA-A alleles of the proband as A * 1101 and the novel allele. The sequences of the novel allele have been submitted to GenBank (DQ313255, DQ313256, DQ313257). After Blast HLA analysis, the novel allele showed only one nucleotide differences with HLA-A * 24020101 at nucleotide position 527 T to C in exon 3. This results in an amino acid changes from Val to Ala at codon 152. In conclusion, this allele is a novel one and has been officially named HLA-A * 2459 by the WHO Nomenclature Committee.
Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Blood Donors ; China ; HLA-A Antigens ; genetics ; Humans ; Molecular Sequence Data ; Sequence Analysis, DNA