Objective To investigate the killer cell immunoglobulin-like receptor (KIR) genes, KIR2DS4 and its variant KIR1D for an association with syphilis in the comparison between syphilis patients and unrelated healthy subjects. Methods One hundred and ninety syphilis patients and 192 unrelated healthy subjects were performed to determine the KIR genotypes by PCR-SSP method. The gene frequencies of KIR2DS4 and KIR1D were analyzed for an association with syphilis in the patients and healthy people who belonged to KIR gene haplotype A. Results Of 192 healthy individuals, 187 were identified with a KIR2DS4 gene. And 91 individuals were classified as homozygous haplotype A with the percent of 48.7% (91/187) in 187 KIR2DS4 positive individuals. Of 190 syphilis patients, 181 were identified with a KIR2DS4 gene. And 89 individuals were classified as homozygous haplotype A with the percent of 49.2% (89/181) in 181 KIR2DS4 positive individuals. The frequency of KIR1D/KIR1D in syphilis patients classified as haplotype A was 16.9%, and was significantly higher than that in the control group (6.6%, P=0.032). However, there was no significant difference for the frequencies of KIR2DS4/KIR2DS4 and KIR2DS4/KIR1D between the two groups (P>0.05). Conclusion KIR1D/KIR1D might be associated with syphilis in the comparison between syphilis patients and unrelated healthy controls who were classified as homozygous haplotype A.

Objective To analyze the distribution of HLA-C alleles in Shandong Han population of China.Methods One hundred and fifty unrelated potential donors,self-claimed as Han population from Shandong province,were selected from China Marrow Donor Program.Genotypes of HLA-C with the donors were identified by PCR-SBT.The frequencies of allele were calculated with direct counting method and the differences with other populations were analyzed with SPSS16.0 x2 software.Results A total of 25 alleles of HLA-C were observed and the most common alleles were C * 06:02 and C * 07:02 with the frequency of more than 10.00％.Moreover,there were 16 kinds of alleles with the frequency of more than 1.00％ accounting for 95.33％ of the total alleles.The distribution of HLA-C alleles in Shandong Han population was similar to that in northern Han population,but had some differences with that in southern Han population.In addition,the distribution of HLA-C alleles in Shandong Han population significantly differed from that of German/African American.Conclusion This study on the distribution of HLA-C alleles in Shandong Han population provides valuable references for further studies on the genetics of HLA,cross-match for organ transplantation and other genetic-associated diseases in this population.

[Objective]To evaluate the effects of sutureless technique in comparison to conventional techniques for repair of total anomalous pulmonary venous connection(TAPVC)with the method of propensity score analysis.[Methods]From October 2007 to December 2013,179 consecutive patients were enrolled in this study. Patients were operated with sutureless technique(n = 81)or Conventional technique(n=98),and followed up at an interval of 1 month,3 months,6 months and then once a year post-operation. During analysis,three type of propensity-score matching methods,including nearest neighbor caliper matching,Mahalanobis metric matching with propensity score ,optimal full matching were used to create balanced groups of patients receiving each treatment. Surgeons’performance difference was assessed with random frailty proportional hazards models with gamma. Composite endpoints was defined by postoperative death or late death or postoperative pulmonary venous obstruction(PVO),which was evaluated with Kaplan-Meier curve and multivariable Cox proportional hazard model,adjusted by Preoperative-PVO,age,gender,weight and TAPVC type.[Results]Nearest neighbor caliper matching method was the best choice during propensity score analysis. After matching ,sutureless group included 73 patients and Conventional group73 patients. In sutureless group,cardiopulmonary bypass(CPB)time(Z=2.18, P=0.030),cross-clamp time(Z=3.63,P<0.001),rate of composite endpoints(HR 95%CI=0.20(0.06~0.61),P=0.005),late death(HR 95%CI=0.03(0.01~0.55),P=0.017)were significantly better than that in Conventional group. In subgroup analysis ,for patients with pre-PVO,decreased composite endpoints was seen in sutureless group.[Conclusion]Comparison using thepropensity score analysis demonstrated that sutureless strategy for primary repair of TAPVC may associate with decreased mortality rate of post-PVO and CPB time and cross-clamp time.

Objective To identify a novel HLA allele, HLA-B*4086, in Chinese population and to investigate its pedigree. Methods An exceptional reaction pattern was detected in routine HLA typing of a CMDP (China Marrow Donor Programme) sample by PCR-sequence specific oligonucleotide primer (PCR-SSOP) assay. A new HLA-B allele was confirmed by sequence-based typing. Then family investigation was performed. Results DNA sequencing confirmed a new HLA allele. Compared with the closest macthing allele HLA-B*40060101, the novel allele has a difference at nt419 (A→T) in exon 3, which resulted in an amino acid change from Tyr to Phe at codon 140. Family investigation indicated the new allele derives from mother of the carrier. Conclusions One novel HLA allele was confirmed by sequencing based typing and it had been designated as HLA-B*4086 by the WHO Nomenclature Committee. This novel allele was inherited from mother of the carrier.

Objective:To explore the environmental risk factors of different categories of congenital heart defects ( CHD) and provide evidence for further risk factors and prevention research of CHD pheno-types. Methods:Data of Guangdong CHD Register Study from 2004 to 2012 were used. In the study, 3 038 CHD cases and 3 038 paired controls from 34 hospitals distributed in 17 cities were registered and related information were collected using uniform, and structured questionnaires. All the CHD phenotypes were coded according to the International Classification of Diseases 10th Revision (ICD-10) and classified into 6 categories according to their pathological features. Univariate analyses were adopted to filter poten-tial risk factors for each category of CHD. Then multivariate conditional Logistic regression was used to calculate the odds ratios of the risk factors for each category of CHD. Results:The risk factors for left-to-right shunt CHD included low ( OR=2 . 63 , 95%CI:2 . 04 -3 . 39 ) or over birth weight ( OR =2 . 21 , 95%CI:1 . 47-3 . 32 ) , premature delivery ( OR=1 . 95 , 95%CI:1 . 53-2 . 49 ) , polyembryony ( OR=1. 99, 95%CI: 1. 22 -3. 26), maternal low education, mother as factory worker (OR =1. 62, 95%CI:1 . 32-1 . 98 ) , parity≥2 ( OR =1 . 38 , 95%CI: 1 . 13 -1 . 69 ) , maternal abnormal reproduction history ( OR=2 . 29 , 95%CI:1 . 75-3 . 01 ) , fever ( OR=2 . 38 , 95%CI:1 . 26-4 . 48 ) , virus infection ( OR=1 . 80 , 95%CI:1 . 29 -2 . 51 ) , medicine usage ( OR=1 . 73 , 95%CI:1 . 11 -2 . 69 ) , passive smoking ( OR=1 . 69 , 95%CI:1 . 26-2 . 29 ) , chemical agent contact ( OR=8 . 71 , 95%CI:2 . 33 -32 . 58 ) , living in newly decorated houses ( OR=2 . 56 , 95%CI:1 . 60-4 . 09 ) or room close to the main road ( OR=1 . 40 , 95%CI:1 . 14-1 . 72 ) in the first 3 months of pregnancy and father as factory worker ( OR=1 . 46 , 95%CI:1 . 23-1 . 73 ) . The risk factors for pulmonary outflow tract obstruction CHD in-cluded low ( OR =5 . 98 , 95% CI: 2 . 88 -12 . 44 ) or over birth weight ( OR = 6 . 56 , 95% CI:1. 19-36. 26), maternal low education, parity≥2 (OR=2. 08, 95%CI:1. 03-4. 22), virus infection in the first 3 months of pregnancy ( OR =4 . 30 , 95%CI: 1 . 27 -13 . 45 ) . The risk factors for left ventricular outflow tract obstruction CHD included father as factory worker ( OR=6 . 01 , 95%CI:1 . 05-34. 59). The risk factors for transposition of the great arteries included low birth weight (OR=12. 93, 95%CI:1. 14-146. 26), maternal low education, mother as factory worker (OR=3. 69, 95%CI:1. 53-8. 91). The risk factors for conditions with intra cardiac mixing of oxygenated and deoxygenated blood in-cluded parity=2 ( OR=3 . 45 , 95%CI:1 . 42-8 . 38 ) . The risk factors for other CHD included over birth weight (OR=4. 87, 95%CI:1. 19-19. 94), maternal abnormal reproduction history (OR=2. 96, 95%CI:1. 14 - 7. 68 ), virus infection ( OR = 4. 92, 95% CI: 1. 56 - 15. 47 ), medicine usage (OR=4. 90, 95%CI:1. 22-19. 77) or passive smoking (OR=10. 31, 95%CI:1. 25-85. 05) in the first 3 months of pregnancy. Conclusion:The environmental risk factors were discrepant among different categories of CHD. Further risk factors study of CHD phenotypes should be performed specially. To prevent CHD, attention should be paid to the risk factors which are related to multi or complex categories of CHD.

OBJECTIVETo verify 3 novel HLA-A alleles A*24:224, A*24:225 and A*24:257 identified in Chinese Han individuals.

METHODSNo full matched results were obtained at HLA-A locus in HLA typing for China Marrow Donor Program (CMDP) using bi-allelic Sequence-Based Typing (SBT). The novel HLA alleles were identified with allele-specific amplification SBT.

RESULTSAll of the three probands had a novel nucleotide sequence at HLA-A locus. All of the 3 new sequences are most close to HLA-A*24:02:01:01 except for 1 or 2 nucleotide substitution in exon 2, which resulted in different changes in corresponding codons and encoded amino acids.

CONCLUSIONThree novel HLA-A alleles were confirmed and officially named as HLA-A*24:224, HLA-A*24:225 and HLA-A*24:257 under the GenBank accession numbers JQ899198, JQ924283 and HG003642 by the WHO Nomenclature Committee for Factors of the HLA System in November 2012 and November 2013, respectively.

Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; Base Sequence ; China ; ethnology ; Genetics, Population ; HLA-A24 Antigen ; genetics ; Histocompatibility Testing ; Humans ; Molecular Sequence Data ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

Objective: To identify a novel human leukocyte antigen (HLA) B allele in a Chinese Han individual and construct its three-dimensional structure. Methods: The initial HLA genotyping was performed by PCR-sequence-based typing (PCR-SBT). The ambiguous allele was confirmed with single-strand DNA sequencing. The DNA sequence was analyzed to identify the difference between the novel allele and its closest matching allele. Finally, the three-dimensional molecular structure of the novel allele was constructed using a Swiss-Model. Results: One allele of the subject at the HLA-B locus was B*44: 03: 01, whilst the other was a novel allele which differed from the closest matching allele B*51: 01: 01: 01 by nucleotide (nt) 329 A>C in exon 2, resulting in an amino acid change at codon 86 (p.Asn86Thr). Conclusion A novel HLA-B allele has been identified and officially named as HLA-B*51: 159 by the WHO Nomenclature Committee for Factors of the HLA System. The three-dimensional structure of B*51: 159 was simulated.

Objective This retrospective cohort study aims to evaluate and compare the prognosis of surgical repair for total anomalous pulmonary venous connection(TAPVC) with different drainage type.Methods From January 2006 to Decem-ber 2013, 328 consecutive patients were enrolled in this study .The distribution of the defects was 109 cases with cardiac, 161 with supracardiac, 32 with infracardiac, and 26 with mixed type of the drainage into the systemic circulation .The clinical re-cords of all the patients were reviewed.Studied variables were extracted from the clinical records.Followed-up was conducted at an interval of 1 month, 3 months, 6 months and then once a year post-operation.Prevalence of peri-operative conditions were compared among four different types.Studied endpoints was defined by postoperative total death or pulmonary venous obstruc-tion(PVO), which was evaluated with Kaplan-Meier curve and multivariable Cox proportional hazard model, adjusted by differ-ent surgical strategy, emergency operation, preoperative-PVO, neonates, weight, combing with other complex cardiac defects,NYHA cardiac function, severe pulmonary hypertension and severe tricuspid regurgitation.Results There were significant discrepancyof preoperative conditions among four types of TAPVC.Patients with infracardiac TAPVC presented the most criticalsymptoms and clinical indexes, which included having largest proportion of neonates, preoperative PVO, severe NYHA grading,pulmonary hypertension and tricuspid regurgitation, having lowest body weight at operation and youngest age.The cardiopulmonarybypass time, aortic crossclamp time and mechanical ventilation time were significantly longer in infracadiac and mixedTAPVC comparing to the other two types.For early mortality(death in hospital), infracadiac(9.4%) and mixed(11.5%)TAPVC demonstrated higher rates of death than cardiac(4.6%) and supracardiac(7.5%)TAPVC, although had no statisticalsignificance.For intermediate-term results, mortality in infracadiac(21.9%) and mixed(30.8%) TAPVC were significantlyhigher than cardiac ( 8.3%) and supracardiac (11.8%) TAPVC.Reoperation was more frequently required in mixed(19.2%), then infracadiac(15.6%)TAPVC.Mixed and infracadiac types are independent risk factors for TAPVC prognosis,after adjusting by the confounding factors.Conclusion Mixed and infracadiac types are independent risk factors for postoperativedeath and PVO among TAPVC patients.This study provided evidence for clinical assessment and management strategy fordifferent types of TAPVC.

OBJECTIVE: To study the polymorphism of human platelet antigen (HPA) system 10 among ethnic Han Chinese from Shandong, China so as to supplement the data of platelet donor bank in the region. METHODS: Peripheral blood samples of platelet donors from the region were genotyped for HPA-10 alleles by PCR-sequence specific primer (PCR-SSP) and direct sequencing. RESULTS: Among 1401 donors, a rare heterozygote carrier of HPA-10w (a+b+) was identified, which gave an allelic frequency of approximately 0.035%. CONCLUSION The detection of rare HPA-10bw antigen allele among ethnic Han Chinese from Shandong is useful for the diagnosis and prevention of neonatal alloimmune thrombocytopenia and post-transfusion purpura in the region.
Alleles ; Antigens, Human Platelet/genetics* ; Asians/genetics* ; Gene Frequency ; Genotype ; Humans ; Infant, Newborn ; Polymorphism, Genetic

OBJECTIVE: To characterize a novel HLA allele, A*24:191, its DNA sequence, MHC modeling structure, and the possible influence of the amino-acid residue variations on the molecule. METHODS: The HLA sequence was determined by Luminex PCR-SSO and PCR-SBT. Its MHC molecular structure and the possible effects of the amino-acid residue variations were modeled and analyzed with Phyre2, RCSB PDB and HistoCheck software. RESULTS: The PCR-SBT revealed the novel A*24:191 differs from A*24:02 in exon 2 at position 256, 265, 270 with G>C, G>C, A>T. The MHC molecular structure prediction showed that, compared with A*24:02, the 62nd residue of A*24:191 changed from the acidic E to a neutral Q, both with the side chain extending outside the α helix pointing forward the groove, (Risler's score, R=2), the 65th changed from the smaller neutral G extending inside the helix to a basic R with a long-chain extending upward outside the helix (R=52), and the 66th changed from the basic K to a neutral N both with a long side chain extending inside the groove (R=31). The above residues are located on the α helix of the α 1 domain which constituting the side wall of the peptide-binding groove. The DSS Score=3.85. From the surface image of the molecule, it can be clearly seen that the variations of the properties, sizes and configurations of the residues caused significant changes in the shape of the surface structure of the α helix. CONCLUSION It suggested that the residue variations are likely to change the peptide binding properties as well as the TCR and antibody binding characteristics of the molecule.
Alleles ; Amino Acid Sequence ; HLA-A Antigens ; Humans ; Peptides ; Protein Binding ; Protein Conformation