MicroRNAs (miRs) play an important role in regulating diverse cellular processes.It has been reported that miRs are associated with the formation and maturation of erythrocytes, and the expression of globin genes at post-transcriptional level.Compared with normal human enrythrocytes, various miRs are altered in the patients with thalassemia.These changes also happen in the patients with diverse clinical manifestations.In this paper, we systematically summarized the recent progress about the expression dysregulation of miRs in β-thalassemia and their roles in regulating the levels of γ-globin and fetal hemoglobin.During β-like globin gene expression, miRs directly or indirectly regulate the levels of erythroid-specific transcription factors through post-transcriptional action, such as B-cell lymphoma 11A (BCL11A), myeloblastosis oncogene (MYB), specificity protein 1 (Sp1), Kruppel-like factor 3 (KLF3) and GATA1.These effects subsequently regulate the switch between γ-and β-globin gene expression and affect fetal hemoglobin production.Targeting miRs might be a novel therapeutic strategy for β-thalassmeia.

Objective To study the relationship between chromosome aberration and the pathogenesis,development and prognosis of lung carcinoma. Methods Tissue speciments from 30 cases of lung carcinoma and 10 cases of normal lung tissue were detected using FISH with chromosome 6 probe,respectively. Results All of the 30 cases of lung carcinoma were found chromosome 6 aberration,involved monosomy,trisomy,and even heptasomy.But there was no chromosome 6 aberration found in normal lung tissues.The significant difference was between these two groups. Conclusion Chromosome 6 aberration may occur in the early stage of lung carcinoma,which may closely relate with the process of pathogenesis,development of lung carcinoma.The chromosome 6 aberration may have the significant association with clinical phase and pathological differentiation among the patients.

Objective: To study the corrosion resistance of orthodontic magnet with titanium nitride coating in artificial saliva. Methods: 6 samples of magnet in the size 3 mm?5 mm?7 mm were prepared.3 of them were coated with titanium nitride by plasma enhanced chemical vapor deposition,another 3 without coating were used as controls.The samples were immersed into artificial saliva at 37 ℃ for one month. Then the surface characters of two kinds of magnets were observed with the naked eye and by electron-probe microanalysis (EPMA). Results: The surface of the magnets with titanium nitride coating was fine and close in texture and there were no cleft and disintegrated area. However, that of the magnets without titanium nitride coating was uneven and coarse in texture,and there were evident clefts and disintegrated areas. Conclusion: The corrosion resistance of orthodontic magnets with titanium nitride coating is stronger than that without coating.

Objective: To study the corrosion resistance of the ortho do ntic magnets with titanium nitride (TiN) coating. Methods: The m agnets coated TiN film were immersed into artificial saliva at 37 ℃ for two mon ths. During the immersion, the concentration of iron ion in the artificial saliv a was analyzed with atomic absorption spectrophotometry(AAS). After immersion, t he weight change of the magnets was measured.The magnets coated with nickel film and without coating were used as the controls.Results: In all t he groups, iron ion concentration in the artificial saliva increased with the in crease of immersion time(P

Objective To explore the value of maternal serum triple markers screening,consisted of AFP (α-fetal protein),β-human chorionic gonadotropin (β-hCG) and free estriol (uE3),for Down's syndrome,in second trimester.Methods We searched published literatures from PubMed,MEDLINE,China National Knowledge Internet (CNKI) and Wanfang Database from January 1990 to August 2014 and articles met the following criteria were collected:(1) The report was of a screening test;(2) The research purpose was to study the efficiency ofAFP,hCG and uE3 (triple markers) screening for Down's syndrome;(3) The research subjects were pregnant women in second trimester;(4) All of the studied cases were confirmed by amniocentesis and chromosome karyotyping;(5) The pregnant outcomes must be available;(6) Each report should have at least one case of Down's syndrome identified;(7) The literature could be retrieved by Science Citation Index or Chinese core periodicals;(8) When assessed by QUADAS (quality assessment of studies of diagnostic accuracy included in systematic reviews) Quality Assessment Scale,the score should be ≥ 8.Information were extracted,including name of the first author,publication time,sample size,sensitivity,specificity,maternal age,gestational age,cutoff value,β-hCG type and others.MetaDiSc 1.4 software was applied for meta-analysis.I2 was used for heterogeneity,and the fixed or random effects model for calculation of the combined sensitivity,specificity,diagnostic odds ratio (DOR) and the 95％CI.The summary receiver operating characteristic (SROC) curve was drawn.Deek's test in Stata Software was used to validate publication bias.Results A total of 49 literatures were recruited in this study with a total sample size of 960 245.Deck's funnel plot analysis showed that the correlation coefficient and the standard error of bias were-1.067 and 3.64 (t=-0.290,P=0.771).The correlation coefficient and the standard error of the slope were 3.578 and 0.26 (t=13.740,P=0.000).The random effects model showed the pooled sensitivity of the 49 literatures was 0.72 (95％CI:0.70 0.74),the pooled specificity was 0.92 (95％CI:0.92-0.93),and DOR was 33.80 (95％CI:25.03-45.65).The area under the SROC was 0.900 7.DOR of younger age group (including three literatures) was 14.38 (95％CI:3.67-56.42) and 26.64 (95％CI:19.49-36.41) for the older age group (two literatures).For two literatures determining the gestational age based on ultrasonography,the DOR was 50.22 (95％CI:26.91-93.71),and DOR was 33.09 (95％CI:17.33-63.19) for those based on last menstrual period in these two literatures.For eight literatures applied the cutoff value of 1:270,12 applied 1:250 and four applied mixed cutoff value,the DOR was 10.94 (95％CI:3.04-39.38),54.34 (95％CI:42.19-70.01) and 36.37 (95％CI:31.19-42.40),respectively.DOR of total β-hCG group (12 literatures) was 22.06 (95％CI:16.46-29.58) and that of free β-hCG group (ten literatures) was 37.15 (95％CI:30.00-46.02).Conclusions Triple regimen of second trimester maternal serum screening for Down's syndrome is much more efficient.The detection rate could be further improved by determination of the gestational age with ultrasound,and application of 1:250 as the risk cutoff value and free β hCG as a screening marker.

To explore the relations of Morphology Immnuophe-notype Cytogenetics Molecular biology(MICM) detection on diagnosis andtreat,emt of leukemia． Methods: 68 cases of leukemia patients had beenanalyzed by morphology(FAB)． Immunohistochemistry(Flow Cytometry, FCM)． chromosome G banding technique and dual-color fluorescence insitu hybridization (D-FISH)．Technique:All patients were treated bychemotherapy． T test and X2 test of significance． Results: 7 cases have acute leukema aberration antigen expression． 5 out of 47 cases acutemyeliod leukemia patients accompany lymhocytic interrelated antigenexpression． 2/l5 cases acute lymphoid leukemia accompany myelocyteinterrelated antigen expression． 2 cases acute lmphoid leukemia are T cell and B cell interrelated antigen mingle expression． had been examined46,XY,t(8,2l) translocation of chromosome and bcr/abl fusion genes inthe acute leukemia patients． 16 out of 20 chronic myeloid leukemia patientshad philadelphia chromosome． 7 out of 20 patients had complicate karyotype． 5 out of 20 patients had bcr/abl fusion gene, l out of 4 patient had bcr/abl fusion gene that Ph chro mosome showed negative in CML． 3/4 cases patients had complicate chromosome． The ratio of CR use l time chemotherapy and the total ratio of CR using 2 times chemotherapywith aberration antigen expression in acute leukemia was significantly lessthan those of the acute leukemia patient had single system antigenexpression(P<0.05)． The time of CML-BC with complicate c hromosome karyotype was significantly short than those of Ph showed negative in CML(P<0.05)． Conclusion: The MICM classification is more acc urate for diagnosis of leukemia and more significant in guiding the leukemiatreamen．

Objective To study the levothyroxine doses and related factors in the treatment of pregnant women with subclinical hypothyroidism (SCH).Methods Fifty-six pregnant women with SCH (diagnosed before 12 weeks of gestation) were recruited and divided into 2 groups according to the baseline TSH levels,SCH group 1 (2.5 mIU/L ≤ TSH ≤ 5.0 mIU/L,n =24) and SCH group 2 (TSH＞5.0 mIU/L,n =32).Thyroid autoantibodies [thyroid peroxidase antibody(TPOAb) and thyroglobulin antibody(TGAb)] were detected.All the subjects were treated with levothyroxine and the doses were adjusted according to the TSH level.The therapeutic target was to keep the TSH levels under control,0.3 to 2.5 mIU/L for the first trimester and 0.3 to 3.0 mIU/L for the second and third trimesters.Results There was a positive correlation between the levothyroxine doses and baseline TSH levels (r =0.533,P＜0.01) in pregnant women with SCH.A significant difference in the levothyroxine doses between SCH group 1 and SCH group 2 was found [(0.583 ± 0.341) vs (0.961 ± 0.405) μg/kg,t =-3.695,P＜ 0.01].The levothyroxine doses in SCH group 2 were 64.84％ higher than those in group 1.There was a significant difference in the levothyroxine doses between thyroid autoantibody negative and positive subjects [(0.680 ± 0.370) vs (0.918 ±0.440) μg/kg,t =-2.197,P =0.032].The levothyroxine doses in thyroid autoantibody positive subjects were 35 ％ higher than those in the negative subjects.In addition,there was a significant difference in the levothyroxine doses between subjects with negative and positive thyroid autoantibody [(0.421 ± 0.192) vs (0.720 ± 0.385)μg/kg,t =-2.331,P =0.029] in SCH group 1.While in SCH group 2,the difference did not reach statistical significance.Conclusion The baseline TSH levels and status of thyroid autoantibodies may affect the levothyroxine dosage in pregnant women with SCH.

Objective To investigate mutation spectrums of α- and β-haemoglobin genes in thalassemia patients and carriers in Yunnan province,and to establish procedures on prenatal gene diagnosis.MethodsTotally 10 033 counseling couples and pregnant women,and 22 cases of children with moderate or severe thalassemia were recruited from 5 parts of Yunnan Province,middle,western,eastern,southern and northern areas, during July 2009 to July 2011.Medical records, including results of haemoglobin electrophoresis,blood routine examination,and gene diagnosis of subjects were collected and saved in an database in Excel software by the Key Laboratory for Birth Defects and Genetic Diseases.Using multiple gap-PCR and PCR-reversed dot blotting kits, DNA samples collected from 1077 cases of haematological positive thalassemia patients and carriers were tested to determine common mutations of the α-or β-haemoglobin genes.The codon regions of haemoglobin genes were sequenced by the Sanger sequencing in cases that the mutation tests were negative.Mutation spectrums of α- and β-haemoglobin genes were concluded.Prenatal gene diagnosis was offered to fetuses who had risk of thalassemia major.Results( 1 ) In 1077 cases of haemological screen positive subjects,deletions and mutations of α-haemoglobin gene were tested in 119 subjects among 347 cases suspected as α-thalassemia patients and carriers.Five kinds of deletions and mutations on α-haemoglobin gene were found.In 104 subjects,four kinds of common deletions and mutations onα-haemoglobin gene were determined:--SEA, -α3.7, αCS α,-α4.2.Other 14 subjects were double heterozygotes with haemoglobin H disease and severe α-thalassemia phenotypes.A rare mutation of insertion and deletion in α2 haemoglobin gene intron,α301-24-301-23 indel,was found in one carrier subject.(2)In 1077 cases of haemological screen positive subjects,deletions and mutations of β-haemoglobin gene were tested in 297 subjects among 730 cases suspected as β-thalassemia patients and carriers.Sixteen kinds of β-haemoglobin gene mutations were found,including 7 cases of rare abnormal haemoglobinopathy patients with β-haemoglobin gene mutations.In one case with β + phenotype patient,the Codon 5 (-CT)mutation at β-haemoglobin gene was found (firstly reported in China ). (3) Three fetuses with high riskS of α-thalassemia were accepted for prenatal diagnosis.One case of Hb Bart's hydrops syndrome fetus with the genotype --SEA/--SEA,and one case of mild α-thalassemia fetus with the genotype αCS α/αα were found.Another one fetus was found with normal α-haemoglobin.In 6 fetuses accepted for prenatal diagnosis due to high risks of β-thalassemia,one case of β-thalassemia major with the genotype CD17( A→T)/-28 (A→G) was found,3 fetuses were heterozygote carriers,and 2 fetuses had normal genotypes without mutations found in their parents.Medical terminations for 2 fetuses with severe thalassemia were made according to the choice of pregnant women.Other 7 pregnancies continued to term.Anemia or growth retardation was not found in the 7 infants when following up after given-birth 6 to 12 months.Conclusions The mutation spectrums of α- and β-haemoglobin genes of thalassemia patients and αarriers.in Yunnan province are special,in which β-haemoglobin gene exits more polymorphism in the mutation spectrum.Carrier screening in pregnant women,and offering prenatal gene diagnosis to the high risk pregnancies should be an efficient strategy to prevent thalassemia major.

Subclinical hypothyroidism during pregnancy is associated with some adverse outcomes during maternal pregnancy.The present study investigated thyroid function parameters measured by electroehemiluminescence (ECL) immunoassays in subclinical hypothyroid women treated with levothyroxine (L-T4) during pregnancy.The results showed that in evaluating thyroid function with ECL immunoassays during replacement with L-T4,determination of serum TT4 appears to have a closer correlation with TSH and may better reflect the effìcacy of treatment.

Objective:To research on the genetic polymorphism distributions of fifteen short tandem repeat ( STR ) loci (D8S1179,D21S11,D7S820,CSF1PO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,VWA,TPOX,D18S51,D5S818, FGA) in Han race of Yunnan. Methods:A total of 313 specimens were collected from the unrelated individuals in Yunnan Han popu-lation. Genome DNA was extracted and amplified by multiplex PCR technique,the PCR products were analyzed by ABI-3130 genetic analyzer capillary electrophoresis detection, collected statistics of each STR loci genotypic frequency, and carried out the Hardy-Weinberg Genetic balance test. Results: No significant deviation from the Hardy-Weinberg Equilibrium was observed ( P>0. 05 ) , the heterozygosity of the fifteen STR loci in Yunnan Han population were found to be 0. 636-0. 901, Probability match was 0. 034-0. 220. Discrimination power of signal STR loci was 0. 780-0. 966, power of paternity exclusion was 0. 336-0. 797, polymorphism information content was 0. 555-0. 860,the combined accumulation discrimination power and exclusion probability for the 15 STR loci in Yunnan Han population were determined to be more than 0. 999 999 99 and 0. 999 998 408. The allele frequency of the 15 STR loci had a similarity compared with other areas in China,but also had a slight regional differences. Conclusion: The 15 STR loci( D8S1179, D21S11,D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA ) demonstrate high genetic polymorphism in Yunnan Han population, they have a high forensic science application value in paternity testing and individual identification.