Objective To study the Secretor gene (FUT2) molecular structure of Uighur population in Xinjiang area,China. Methods DNA was extracted from 40 Uygur unrelated donors' blood and sequence analysis of FUT2 genes was performed. Results Four mutations in the FUT2 genes of Uighur donors have been identified. The frequencies of mutations were 71.25% for 357T, 28.75% for 357C,77.50% for 385A,22.50% for 385T,70% for 428G,30% for 428A,72.50% for 739G and 27.50% for 739A. Conclusion Based on the characteristics of FUT2 gene structure of Xinjiang Uighur,it cauld be thought that there are some relationships between Xinjiang Uighur, Taiwanese of China and Caucasiany.

Objective To study the correlation between alanie aminotransferase(ALT) unqualified samples and hepatitis B sur‐face antigen(HBsAg) and hepatitis C virus antibody (anti‐HCV) detection and to investigate an effective measure for reducing the discard rate of donated blood .Methods 330 633 blood samples donated by volunteers in Shenzhen Municipal Blood Center from January 1 ,2009 to December 31 ,2013 were performed the ALT ,HBsAg and anti‐HCV detection .Then the correlation between the detection results of ALT and viral hepatitis .Results Among 33 0633 donated blood samples ,there were 932 cases (0 .282% ) of ALT positive and 2 965 cases (0 .897% ) of viral hepatitis positive ,the differences were statistically significant (P<0 .05) .915 cases were unqualified in ALT ,but negative in viral hepatitis ,which accounting for 98 .176% of all ALT unqualified samples ;the blood discard rate generated by ALT disqualification was 0 .277% (915/330633) .Conclusion Our study indicates that the statistical difference exists in the ALT unqualified rate and the viral hepatitis detection rate ,conducting the ALT detection has the lower coin‐cidence rate for expected viral hepatic ,many false positive lead to the discard of normal blood .Therefore ,whether to continue using the ALT detection as the auxillary detection indicator is still being negotiated .

Objective To investigate the pathological and immunohistochemical characteristics of female bladder ectopic skene glands.Methods A female with bladder tumor was treated in our hospital in May 2013.Preoperative so(n)graphy revealed a 0.9 cm×0.6 cm round solid mass in the bottom of bladder wall.Mass was hypoechoic homogeneous with regular shape,blood flow within the mass was noted.The tumor was treated with transurethral resection.Routine pathological examination suggested bladder ectopic Skene glands.Immunohistochemical stains for prostate specific antigen (PSA),prostate spectific acid phosphatase (PSAP),androgen receptor (AR),estrogen receptor (ER),CD10,cytokeratin 14 (CK14),cytokeratin 18 (CK18),P63,high molecular weight cytokeratin (34βE12),α-methylacyl-CoA racemase (AMACR/p504s) were further performed.Results Routine pathological examination showed prostate glands composed of prostate gland epithelial cells and basal cells in a submucosal location.Immunohistochemical stains showed:PSA-,PSAP +,AR +,ER-,CD10+,CK18 +,CK14-,P63 +,34βE12 +,AMACR-.Conclusions Routine pathological examination combined with immunohistochemical stains such as PSA,PSAP,and others,can be used to diagnose ectopic Skene glands disease.Female bladder ectopic Skene glands is a benign lesion,and the prognosis is good.

BACKGROUND: The judgment of the engraftment of hematopoietic stem cells after transplantation mainly depends on various genetic labeling in vivo, which are different in sensitivity and effectiveness, thus a method with powerful differential ability, high sensitivity and not restricted by sex is to be established.OBJECTIVE: To observe the DNA genetic loci of short tandem repeat in the blood samples of both donors and recipients before allo-hematopoietic stem cell transplantation and those of recipients at different time points after transplantation.DESIGN: An observation measurement.SETTING: Laboratory of Immunogenetics, Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center.PARTICIPANTS: Blood samples of 18 pairs of donors and recipients, who were successfully matched and accepted hematopoietic stem cell transplantation, were selected from the Laboratory of Immunogenetics, Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center from February 2004 to December 2005. Among the 18 patients, there were 10 males and 8 females, with a mean age of 35 years old, including 6 cases of them were donated by relatives with blood relationship, and 12 cases by volunteers without blood relationship. Informed consents were obtained from all the participants.METHODS: The blood samples of both donors and recipients before transplantation and the blood samples of recipients after transplantation were collected, and the fluorescence labeling short tandem repeat technique was used to detect the 15 loci for short tandem repeat and Amelogenin sex locus, so that the differential loci between the donor and recipient could be screened. The engraftment and dynamic changes of the short tandem repeat genes of the donors in the recipients after transplantation were observed, the times for the earliest occurrences of short tandem repeat genes of the donors and the complete chimerism were recorded.MAIN OUTCOME MEASURES: ① Differential genes between the donors and recipients before transplantation;②Times for the earliest occurrences of short tandem repeat genes of the donors and the complete chimerism.RESULTS: All the 18 pairs of donors and recipients were involved in the final analysis of results. Satisfactory results of the typing at the 15 loci for short tandem repeat and 1 sex locus in the 18 pairs of samples of both donors and recipients before transplantation and the sample of the recipients after transplantation respectively. Averagely 12.4 (8-15) differential loci for short tandem repeat could be distinguished between the donors and recipients. ②After transplantation, short tandem repeat genes could be detected the earliest at 8 (5-14) days averagely, It took 14 (9-23) days averagely for short tandem repeat loci to convert from recipient type completely into donor type, and the engraftment converted from the recipient chimerism types completely into the donor types.CONCLUSION: The fluorescence labeling compound amplification of short tandem repeat technique can precisely measure the number of PCR products, describe the engraftment of hematopoietic stem cells and the whole process of development. It can also provide accurate and timely information for the early judgement of engraftment, predicting failure of transplantation and controlling recurrence.

Objective To study the molecular genetic background of Bel subtype at ABO blood group.Methods Three samples and fifteen samples were diagnosed as Bel subgroup and normal control samples by serological test,respectively.The extracted DNA was genotyped by sequence specific primer- polymerase chain reaction foilowed by sequencing for Exon6 and exon7 at ABO locus and clones were sequenced.Results A novel Bel variant allele(GenBank EF117687) was identified in a Bel individual.The Bel allele was different from the regular B101 allele by single 952G>A missense mutation in exon7.resulting in an amino acid subsfitution of Val for Met at 318 locus.No mutations were detected in the fifteen control samples and the other two Bel allele samples.Conclusions The mutation position was fimt found to lie on coding region of ABO gene behind nucleotide 930.The mutation of G952A in the al,3 galactosyhransferase gene may be one of the molecular genetic basis of Bel ohenotype.

Objective To investigate the sleep quality and the risk factors for sleep disorders in population at high-risk for stroke:.Methods A cross-sectional survey was conducted in population at highrisk for stroke:in Water Park and Wangdingdi Communities,Nankai District,Tianjin in March 2016.The residents were divided into either a good sleep group or a sleep disorder group according to the Pittsburgh Sleep Quality Index (PSQI).Multivariate logistic regression analysis was used to determine the risk factors affecting sleep quality.They also divided into a stroke history group and a non-stroke history group according to the high-risk population with or without previous history of stroke.The sleep quality was compared between the 2 groups,and the correlation between sleep disorders and stroke outcomes was analyzed.Results A total of 565 residents at high-risk for stroke were enrolled in the study,and 178 01.5％) had sleep disorders.The age in the sleep disorder group was significantly older than that in the good sleep group (66.70 ±8.97 years vs.62.87 ±9.46 years;t =4.540,P＜0.001).The proportions of female (68.0％ vs.49.1％;x2 =16.190,P ＜ 0.001),hypertension (69.7％ vs.57.9％;x2 =7.154,P =0.005),ischemic heart diseases (48.9％ vs.35.4％;x2 =9.253,P =0.002),history of previous stroke or transient ischemic attack (TIA) (30.9％ vs.18.9％;x2 =10.080,P =0.001),and carotid plaques (71.9 vs.53.7％;x2 =16.688,P ＜0.001) in the sleep disorder group were higher than those in the good sleep group.Multivariate logistic regression analysis showed that after adjusting for age and sex,the history of previous stroke or TIA (odds ratio [OR] 1.712,95％ confidence interval [CI] 1.105-2.653;P =0.016),and carotid plaques (OR 1.583,95％ CI 1.003-2.498;P =0.048) were the dependent risk factors for sleep disorders.The total score of PSQI in patients with previous stroke was significantly higher than that in patients without previous stroke (7.25 ±4.71 vs.6.13 ±4.20,t =-2.578,P =0.010).The sleep latency score (1.24 ± 1.06 vs.0.95 ± 1.02;t =-2.868,P =0.004) and sleep disorder score (1.23 ± 0.63 vs.1.07 ± 0.61;t =-2.622,P =0.009) in patients with previous stroke history were significantly higher than those without.According to the modified Rankin Scale scores,the patients with a history of stroke were divided into a good outcome group (0-2) and a poor outcome group (＞2),including 105 (82.0％) and 23 patients (18.0％),resectively.The proportion of patients with sleep disorders (78.3％ vs.35.2％;x2 =14.251,P＜0.001) and the PSQI score (median and four percentile interval:6 [3-8] vs.12 [8-18];Z =-4.392,P ＜0.001) in the poor outcome group were significantly higher than those in the good outcome group.Conclusions The incidence of sleep disorder is high in the high-risk population,the previous stroke or TIA history and carotid plaques are the independent risk factors for sleep disorder in the high-risk population,and sleep disorder is associated with the poor outcomes of strokes.Therefore,attention should be paid to the sleep quality of this stroke high-risk population and control the risk factors of causing sleep disorders,especially for those with a history of stroke.This will help reduce the risk of stroke.

Objective To explore the correlation between illness conception, health seeking behavior and mental health status in recruits. Methods 865 recruits were evaluated by Symptom Checklist 90 (SCL-90), Self-Rating Anxiety Scale (SAS), Self-Rating Depression Scale (SDS) and Self-Rating Scale of Illness Conception and Health Seeking Behavior (SSICHSB) . Results (1) Except interpersonal sensitivity, depression and hostility, there were significantly differences in other factors of SCL-90 between recruit and the national norm. Somatization and anxiety scres were significantly higher ghan the military norm. The scores of SAS and SDS were significantly higher for recruits compared to national norm. (2) There was negative correlation between the total score, each factor score of SCL-90, the total score of SDS, the total score of SAS and SSICHSB; (3) Stepwise lines regression found three factors including anxiety, the total score of SAS and obsessiveness statistically significant, when the dependent variable was the total score of SSICHSB. Conclusion There are obvious somatization,anxiety and depression in recruits. The more obvious the symptoms are, the more passive the illness conception and health seeking behavior are.

Objective To identify novel ABO allele in Chinese population. Methods The ABO blood group was tested by serological method, and then genotyped by sequence-specific primer (PCR-SSP) , gene cloning and sequence analysis. Results A healthy blood dornor who was diagnosed as having A2 subgroup and A2O1genotype was subjected to ABO gene cloning and sequence analysis. The haplotype-specific sequence analysis indicate that two single-base deletions, where G-deletion at nucleotide position 261 and A-deletion at nucleotide position 496 were determined in the O1 allele. The nucleotide sequence of the novelO1 allele were identical to ABO 0101 allele except for A-deletion at nucleotide position 496 in exon7 of ABO locus. Conclusion We defined this 0 allele as a novel O1 variant allele, and its registered number by GenBank is AY374123.

Objective To study the mutation of FUT1 and FUT2 genes in para-Bombay individual.Methods Direct DNA sequencing of FUT1 and FUT2 gene coding region were analyzed in two individuals with para-Bombay phenotype.Results One individual lost one of the three AG repeats located at nucleotides 547~552 of the FUT1 gene, whereas two of the three T repeats located at nucleotides 880~882 were deleted in the other.Conclusion Two frame-shift mutations of FUT1 gene are responsible for the H antigen deficiency

Objective To investigate status of macrolide resistance and determine molecular mechanisms in Mycoplasma pneumoniae.Nethods All of 370 throat swab specimens were cultured to isolate Mycoplasma pneumoniae.Mycoplasma pneumoniae isolates were identified by nested PCR for specific 16SrRNA gene.Antibiotic susceptibility test was done to identify acrolide resistant strains.23SrRNA gene wag amplified by nested PCR followed by direct automatic sequencing method.The DNA sequences were compared to the sequence of Mycoplasma pneumoniae M129(accession no.X68422)to find molecular mechanisms of drug resistance.Results Fifty clinical strains were isolated from 370 specimens.Of 50 strains.4 strains were susceptible to macrulide,46 strains were macrolide resistant with the percentage of 92%.MICs of resistant strains to erythromycin.Azithromycin and josamycin were elevated.The sequence of 23SrRNA gene in 4 Susceptible strains and the reference strain FH was identical to Mycoplagma pneumoniae gene in GenBank.46 resistant strains arbored a point mutation respectively,among them,40 strains had all A to G transition at position 2063.1 strain had an A to C transition at position 2063,the other five strains showed an A to G transition at position 2064.Conclusions Macrolide resistance in Mycoplasma pneumoniae iS very serious health conceru.The point mutation in 23SrRNA.Xpecailly predominant position 2063 mutation contributed to the macrolide resistance in Mycoplagma pneumoniae.The MICs of resistant strains to erythromycin,azithromycin and iosamycin are much higher than Mycoplasma pneumoniae reference strain FH.