Hemoglobinopathy is a kind of hereditary hematonosis caused by the disproportion among normal hemoglobins or formation of abnormal hemoglobins.Hemoglobin analysis plays an important role in screening and diagnosing hemoglobinopathy.Emerging methods have been applied continuously to hemoglobinometry since the early 20th century.Nowadays,agarose gel electrophoresis,high performance liquid chromatography and capillary electrophoresis are widely used with mass spectrometry as the latest applied method.All these methods have their own features.Appropriate combination of these methods will lead to more scientific and reliable results.

Objective To explore microRNA (miRNA) expression patients with β-thalassemia major.Methods MiRNA differential expression were detected in β-thalassemia major by miRNA microarray analysis and quantitative real-time PCR.Results The results of miRNA array showed that 26 differential expression miRNAs were up regulated and 30 differential expression miRNAs were down regulated.Hsa-miR-618 which expression was up regulated and hsa-miR-103a-2-5p which expression was down regulated were selected for quantitative real-time PCR detection.It was showed that the expression tendency of hsa-miR-618 and hsa-miR-103a-2-5p were consistent.So the method of miRNAs array was reliable.The target genes of 17 miRNAs which were up regulated and 24 miRNAs which were down regulated were predicted by using database software.Conclusion It is notable that the differential expression of miRNAs in patients with β-thalassemia major.It will be afforded new direction and thinking for the mechanism research and disease treatment through the further research of the miRNAs regulation pathway in β-thalassemia major.

Objective To investigate 13 high-risk types of HPV (HR HPV) infection rates in women with different grades of cervical lesions.Methods A total of 350 women, who were hospitalized in the department of gynecology in Bao′an Maternity & Child health hospital, were enrolled for the study.TCT technology was used to evaluate the cervical epithelium.The group were divided according to the cytology results.Multiplex real time PCR (mRT PCR) was used to detect the viral loads.HR HPV infection rate of different groups were analyzed using χ2 test or Fisher exact test.HR HPV viral loads of patients in different grades of cervical lesion groups were compared using Kruskal-Wallis or Wilcoxon test, and the age distribution of HR HPV positive group and negative group was analyzed by using Wilcoxon test.Results The HR HPV infection rates of NILM, ASCUS, LSIL, HSIL were 3.4% (10/295), 20.0% (7/35), 78.6% (11/14) and 100.0% (6/6), respectively.HR HPV positivity in NILM was lower than ASCUS (χ2=14.43,P<0.01) and LSIL (χ2=107.69,P<0.01), HR HPV positivity in ASCUS was lower than LSIL (χ2=14.76,P<0.01). The median of HR HPV viral loads in NILM, ASCUS, LSIL and HSIL were 4.10 (3.38-6.27), 5.33 (3.63-6.66), 5.77 (4.01-7.01) and 5.58 (4.19-5.85) respectively (copies/ml,lg).Combined ASCUS, LSIL and HSIL groups into cervical lesion group, HR HPV viral load of which was higher than that of NILM (U=43.0, P<0.05).The median Ages of HR HPV positive group and negative group were 36 and 33, respectively.No statistical significance was found between them (U=4 544, P>0.05).Conclusions The present study revealed that HR HPV infection was related to cervical lesion, but there was no correlation between viral load and cervical lesion grade. In additional, no difference in age distribution was found between HR HPV positive group and negative group.

Objective To analysis of the detection result of amniotic fluid chromosome which in NIPT high-risk pregnant women.Methods Amniotic fluid cells via amniotic cavity puncture were cultured and analyzed,the chromosome karyotypes were observed.Results The highest positive predictive value of NIPT was for trisomy 21(85.00%),then trisomy 18(75.00%),sex chromosome abnormalities(68.00%),other chromosome abnormalities(41.67%),trisomy 13 (25.00%).Conclusion The highest accuracy of NIPT was shown in detection of Down''s syndrome by NIPT.NIPT was screening test which is effective and noninvasive in prenatal diagnosis.Amniotic fluid Chromosomal karyotype analysis was the gold standard in the diagnosis of fetal chromosomal disease.

Objective To compare real time PCR with PCR-reverse dot blot hybridization (PCR-RDB)for detecting human pap-illomavirus (HPV)infection in women.Methods A total of 109 genital specimens from women were collected in the study.All specimens were tested HPV by using real time PCR and PCR-RDB,discrepant samples were tested again by PCR-xMAP.Results The concordant rate was 83.5%(91/109)between real time PCR and PCR-RDB (kappa=0.671),the other 18 discrepant samples were retested by PCR-xMAP,7 of those were identical with real time PCR and 11 with PCR-RDB.No differences of PCR-RDB pos-itive rates were found between the high and low viral load groups (χ2 =1.476,P =0.224).Conclusion It demonstrated moderate consistency between real time PCR and PCR-RDB.The HPV positive rates of PCR-RDB were stable when the viral loads were 103-108 .

Objective To evaluate the clinical usefulness of Treponema pallidum IgM Western blot (TP-IgM-WB) test in the diagnosis of neonatal congenital syphilis. Methods Eight cases of neonatal congenital syphilis, whose mothers were diagnosed as syphilis at different pregnant stages, were tested by TRUST, TPPA, FTA-ABS-19S-IgM and TP-IgM-WB. The results and clinical manifestations were analysed. Results Three of 8 cases presented clinical manifestations of congenital syphilis, including typical cutaneous lesions, syphilitic pneumonia, and multi-system failure. The others were asymptomatic. In all 8 cases TP-IgM-WB was positive. Of them 7 cases FTA-ABS-19S-IgM was positive. Six cases (including 3 symptomatic) were positive to all four tests. One case was positive to FTA-ABS-19S-IgM and TP-IgM-WB, but negative to TRUST and TPPA. One case was negative to FTA-ABS-19S-IgM, but positive to TPPA, TP-IgM-WB and TRUST, and TRUST titer was 4 times as high as her mother. Conclusions In view of its high specificity and sensitivity, TP-IgM-WB could be used as a confirmatory test for the diagnosis of both symptomatic and asymptomatic neonatal congenital syphilis.

Objective To investigate the female human papillomavirus(HPV)infection situation in Baoan district,the HPV pos-itive rates in different age groups and the subtypes distribution.Methods PCR followed with reverse dot blot was performed to ex-amine 23 kinds of HPV genotypes in 2 627 female patients in our hospital from the January 2011 to December 2012.Results In 2 627 samples,the positive rate of HPV was 23.94% (629 cases),in which the infection rate of single low-risk type was 15.1%(95 cases),the main HPV genotype was HPV43 (7.79%);the infection rate of high-risk type was 55.17% (347 cases),the 3 most prevalent HPV genotypes were HPV52 (12.56%),HPV16 (9.86%)and HPV58 (7.79%).The multiple HPV infection ac-counted for 29.73% (187 cases).The HPV infection rates in different age groups were 50.0% in age 15-20 years,24.7% in age 21-30 years,20.8% in age 31-40 years,25.8% in age 41 -50 years,42.1% in age >50 years respectively,the differences had statistical significance.Conclusion The HPV infection rate is 23.94% in Bao′an district.The most prevalent HPV genotypes are HPV 52,16,58,43.Women in age 15-20 years old have a higher infection rate.

Objective To explore the clinical feature of severe enterovirus 71 (EV71) associated hand foot and mouth disease (HFMD),and genotype of EV71.Methods Fluorescent quantitation PCR was done for detecting EV71.RT-PCR was performed to amplify VP1 for sequencing and identifying genotype.A retrospective analysis was performed based on the clinical data of 15 cases with severe EV71 infection.Results EV71 nucleotide was positive in all 15 cases.The genotype of EV71 was C4.All cases had abnormal temperature and followed with nervous symptoms in the early stage.Average time was 1.26 days from onset to severe complications appearance.Eleven cases progressed to neurogenic pulmonary edema.Four cases accepted nasal continuous positive airway pressure.Eleven cases accepted oral trachea cannula mechanical ventilation.Except for 3 cases died,one case abandoned,others 11 cases were cured.Conclusion The isolated strains of EV71 in this study are all C4 genotype.All cases with severe EV71 infection were followed with nervous symptoms in the early stage,most of whom would progress to neurogenic pulmonary edema.The mortality would be cut down by using mechanical ventilation in early stage.

β-thalassemia is caused by β-globin gene mutations.However,heterogeneous phenotypes were found in individuals with same genotype,and still undescribed mechanism underlies such variation.We collected blood samples from 30 β-thalassemia major,30 β-thalassemia minor patients,and 30 matched normal controls.Human lncRNA Array v2.0 (8 × 60 K,Arraystar) was used to detect changes in long non-coding RNAs (lncRNAs) and mRNAs in three samples each from β-thalassemia major,β-thalassemia minor,and control groups.Compared with normal controls,1424 and 2045 lncRNAs were up-and downregulated,respectively,in β-thalassemia major patients,whereas 623 and 349 lncRNAs were up-and downregulated,respectively,in β-thalassemia minor patients.Compared with β-thalassemia minor group,1367 and 2356 lncRNAs were up-and downregulated,respectively,in β-thalassemia major group.We selected five lncRNAs that displayed altered expressions (DQ583499,X-inactive specific transcript (Xist),lincRNA-TPM1,MRFS16P,and lincRNA-RUNX2-2) and confirmed their expression levels in all samples using real-time polymerase chain reaction.Based on coding-non-coding gene co-expression network and gene ontology biological process analyses,several signaling pathways were associated with three common organ systems exhibiting β-thalassemia phenotypes:hematologic,skeletal,and hepatic systems.This study implicates that abnormal expression levels of lncRNAs and mRNA in β-thalassemia cases may be correlated with its various clinical phenotypes.

Objective To determine the genetic polymorphisms of DC-SIGN and DC-SIGNR among HIV negative Chinese female sex workers. Methods The 69 bp tandem repeat numbers in exon 4 of the DC-SIGN and DC-SIGNR were examined by PCR in 234 HIV-1-seronegative female commercial sex workers. Results It was found that 4 of 234 individuals were heterozygous in DC-SIGN. For DC-SIGNR, the allele frequencies were seven times repeated in 65.2%, 5 in 18.4%, and 9 in 11.9%. Those patterns of alleles frequencies were significantly different compared with those reported in the Caucasians residing in Europe. Conclusion Polymorphisms of DC-SIGN repeat region seem to be infrequent in Chinese female sex workers and those of DC-SIGNR are different from what reported in other races.