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1.
Article in Chinese | WPRIM | ID: wpr-928407

ABSTRACT

OBJECTIVE@#To analyze the clinical features and genetic variant in a patient with Usher syndrome.@*METHODS@#Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus.@*RESULTS@#The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year.@*CONCLUSION@#The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.


Subject(s)
Cadherin Related Proteins , Cadherins/genetics , Child , China , Female , Genetic Testing , Humans , Infant, Newborn , Pedigree , Pregnancy , Prenatal Diagnosis , Usher Syndromes/genetics
2.
Article in Chinese | WPRIM | ID: wpr-928363

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).@*METHODS@#PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.@*RESULTS@#The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.@*CONCLUSION@#The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.


Subject(s)
Adenosine Deaminase/genetics , China , Female , Humans , Mutation , Pedigree , Pigmentation Disorders/congenital , RNA-Binding Proteins/genetics
3.
Article in Chinese | WPRIM | ID: wpr-882791

ABSTRACT

Objective:To investigate the genetic etiology of a child with epilepsy accompanied by motor retardation.Methods:A patient with epilepsy and motor retardation in Henan Provincial People′s Hospital in January 2020 and his parents′ peripheral blood 2 mL were collected.G-banded karyotyping and array-based comparative genomic hybridization (aCGH) were used to analyze the duplication / deletion of chromosome segments in child and her pa-rents.Results:The karyotype of the patient revealed 46, XX, and add(19)(p13.3→qter), whereas aCGH detected a 9.50 Mb duplication at 19q13.33q13.43[arr(hg19)(49593920_59092570)×3]. This region contains 471 genes.No abnormality was discovered in the karyotyping and aCGH analysis of the patient′s parents.The phenotypes of the patient conformed to the previously reported clinical characteristics of 19q13.3 duplication.Conclusions:The de novo 19q13.3 duplication is the cause of epilepsy and motor development retardation for the patient.Combined with aCGH, the traditional G banding is valuable to diagnose the patient with developmental delay.

4.
Article in Chinese | WPRIM | ID: wpr-826551

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with supravalvular aortic stenosis.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.@*CONCLUSION@#The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.


Subject(s)
Aortic Stenosis, Supravalvular , Genetics , Child , Chromosome Banding , Chromosomes, Human, Pair 7 , Genetics , Comparative Genomic Hybridization , Gene Deletion , Genetic Testing , Humans , Williams Syndrome , Genetics
5.
Article in Chinese | WPRIM | ID: wpr-797500

ABSTRACT

Objective@#To explore the influence of uniparental disomy (UPD) on bipartite and tripartite paternity testing.@*Methods@#Two cases of paternity testing were analyzed by multiplex amplification and capillary electrophoresis typing. Suspected UPD was verified by using single nucleotide polymorphism array (SNP array). Parental power index was calculated by using a bipartite or tripartite model.@*Results@#The two cases were found to harbor respectively three short tandem repeats on chromosome 2 and two short tandem repeats on chromosome 15. SNP array verified that both cases were of UPD. Case 1 had a parental power index of 122274987565.23 by a tripartite model, while case 2 had a parental power index of 13500.8463 by a bipartite model. Based on the technical specification, the conclusions supported a biological parent-child relationship in both cases.@*Conclusion@#UPD may lead to misjudgment of paternity testing. The possibility of UPD should be considered when certain loci which do not conform to Mendelian inheritance have aggregated to one chromosome.

6.
Article in Chinese | WPRIM | ID: wpr-776770

ABSTRACT

OBJECTIVE@#To explore the influence of uniparental disomy (UPD) on bipartite and tripartite paternity testing.@*METHODS@#Two cases of paternity testing were analyzed by multiplex amplification and capillary electrophoresis typing. Suspected UPD was verified by using single nucleotide polymorphism array (SNP array). Parental power index was calculated by using a bipartite or tripartite model.@*RESULTS@#The two cases were found to harbor respectively three short tandem repeats on chromosome 2 and two short tandem repeats on chromosome 15. SNP array verified that both cases were of UPD. Case 1 had a parental power index of 122274987565.23 by a tripartite model, while case 2 had a parental power index of 13500.8463 by a bipartite model. Based on the technical specification, the conclusions supported a biological parent-child relationship in both cases.@*CONCLUSION@#UPD may lead to misjudgment of paternity testing. The possibility of UPD should be considered when certain loci which do not conform to Mendelian inheritance have aggregated to one chromosome.


Subject(s)
Chromosomes, Human, Pair 2 , Genetics , Humans , Microsatellite Repeats , Paternity , Polymorphism, Single Nucleotide , Uniparental Disomy , Genetics
7.
Article in Chinese | WPRIM | ID: wpr-688161

ABSTRACT

<p><b>OBJECTIVE</b>To provide prenatal diagnosis for a pregnant woman with a history of Williams-Beuren syndrome pregnancy.</p><p><b>METHODS</b>The karyotypes of the fetus and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected for the fetus and his parents. aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus.</p><p><b>CONCLUSION</b>The 2p13.3-p12 microdeletion carried by the fetus was de novo. As it has involved dosage-sensitive genes SPR and DCTN1, the deletion is probably pathogenic.</p>

8.
Article in Chinese | WPRIM | ID: wpr-335140

ABSTRACT

<p><b>OBJECTIVE</b>To study the genetic polymorphisms and mutations of 20 frequently used autosomal microsatellites among ethnic Hans from Henan.</p><p><b>METHODS</b>Peripheral blood samples of 2604 individuals were collected. DNA was amplified and genotyped using a PowerPlex(TM) 21 system. The frequencies, forensic parameters and mutation rates of the 20 short tandem repeat (STR) loci were analyzed.</p><p><b>RESULTS</b>A total of 323 alleles were found in this population and the allelic frequencies have ranged from 0.0003 to 0.5144. Except for D3S1358, TH01 and TPOX, mutations have been found in all of the remaining 17 STR loci, which totaled 47, with mutation rates ranging from 0 to 3.46 × 10.</p><p><b>CONCLUSION</b>The 20 STR loci selected by the PowerPlex(TM) 21 system are highly polymorphic among ethnic Hans from Henan, and may be of great value in forensic and human population studies. As no similar study has been carried out previously, above results may be of great value for individual discrimination and paternal testing.</p>


Subject(s)
Adolescent , Adult , Alleles , Asians , Ethnology , Genetics , Child , Child, Preschool , China , Ethnology , Female , Genotype , Humans , Male , Microsatellite Repeats , Mutation , Pedigree , Polymorphism, Genetic , Young Adult
9.
Chongqing Medicine ; (36): 3517-3519, 2015.
Article in Chinese | WPRIM | ID: wpr-479630

ABSTRACT

Objective To analyze the clinical characteristics,therapy and follow-up of the patients with ulcerative colitis (UC).Methods Collect the date of 77 inpatients with UC at the Second Affiliated Hospital of Chongqing Medical University be-tween November,2009 and october,2014,and assigned the patients randomly.Results 69.9% of the patients who were in the ac-tivity stage were moderate severity.E2 (46.6%,34/73)and E3 (50.7%,37/73)were the common lesions range.The main clinical manifestations were abdominal pain,diarrhea,mucopurulent bloody stool and bloody stool.The enteroscopy mostly showed that in-testinal mucosa hyperemia,eddma,erosion,and small ulcers had the common features of UC.The common biopsy results were chro-nic inflammation and/or erosion.The average value of serum ALB decreases while the severity of UC patients increases.Drug thera-py was the main treatment of UC.The maintenance therapy was aminosalicylic acid,the effective ratio of treatment is 89.0%(55/73).Conclusion UC treatment plan basically follow the consensus and we should enhance the follow-up of UC patients.

10.
Article in Chinese | WPRIM | ID: wpr-299793

ABSTRACT

Nine morphologic traits, plant height, ground diameter, leaf length, leaf width, leaf area of plant, leaf fresh weight, blades, length/width ratio, plant fresh weight of Anoectochilus roxburghii from 13 different areas were determined for correlation analysis, path analysis and principal components analysis. Different source of morphological trait variation coefficient of A. roxburghii was 2.96% -12.59%, plant fresh weight was significant positively correlated with ground diameter, plant height and leaf number, and positively correlated with leaf fresh weight. Path analysis showed that plant height had the largest positive direct effect on plant fresh weight, the leaf fresh weight and blades number had indirect effects on the plant fresh weight. Through principal component analysis, morphological traits of A. roxburghii can be divided into "Determinants of high-yielding morphology" and "Determinants of leaf production". In the actual process of production and breeding of A. roxburghii, we should pay attention to plant height, leaf fresh weight, blades numbers and other traits.


Subject(s)
China , Orchidaceae , Chemistry , Classification , Phenotype , Plant Leaves , Chemistry
11.
Chinese Journal of Hepatology ; (12): 915-920, 2014.
Article in Chinese | WPRIM | ID: wpr-337065

ABSTRACT

<p><b>OBJECTIVE</b>To explore the effect of microRNA-30a-5p (miRNA-30a-5p) on the biological behavior of human hepatoma cells.</p><p><b>METHODS</b>The liver cancer cell line SMCC-7721 cells and the normal liver cell line L02 cells (control) were transiently transfected with miRNA-30a-5p mimics and an miRNA-30a-5p inhibitor by Lipofectamine 2000 (Life Technologies). miR-30a-5p mRNA expression was detected by quantitative real-time (q)PCR. Cell proliferation was evaluated using the Cell Counting Kit-8 (CCK-8) assay and apoptosis was assessed by flow cytometry.Invasion and migration were measured by transwell chamber assays. The SMCC-7721 cells was injected subcutaneously into nude mice to establish a tumor animal model.</p><p><b>RESULTS</b>The SMCC-7721 cells transfected with miRNA-30a-5p mimics showed significantly higher miRNA-30a-5p mRNA expression than the non-transfected SMCC-7721 cells and the transfected control L02 cells (P<0.01). The miRNA-30a-5p mRNA expression was significantly lower in the SMCC-7721 cells transfected with the miRNA-30a-5p inhibitor than the non-transfected SMCC-7721 cells the control L02 cells (P<0.01). The overexpression of miRNA-30a-5p inhibited the viability, colony formation rate, and invasion and migration abilities, as shown in the cells transfected with the miRNA-30a-5p mimics (P<0.05); in addition, the miRNA-30a-5p promoted proliferation of cells (P<0.05), as shown by more S phase cells detected by flow cytometry. SMCC-7122 cells transfected with miRNA-30a-5p mimics produced tumors with significantly higher average weight than tumors produced by SMCC-7122 cells that were untransfected or transfected with empty vector (both P<0.01).</p><p><b>CONCLUSION</b>Overexpression ofmiR-30a-5p had an inhibitory effect on cell proliferation, induced apoptosis, increased the number of cells in S phase, and markedly inhibited invasion and migration of SMCC-7721 HCC cells in vitro and in vivo.</p>


Subject(s)
Animals , Apoptosis , Carcinoma, Hepatocellular , Cell Line, Tumor , Cell Movement , Cell Proliferation , Gene Expression Regulation, Neoplastic , Humans , Liver Neoplasms , Mice , Mice, Nude , MicroRNAs , Neoplasm Invasiveness , Transfection
12.
Article in Chinese | WPRIM | ID: wpr-291741

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association of polymorphisms of human leukocyte antigen DRB1 gene (HLA-DRB1) with susceptibility to unexplained recurrent spontaneous abortion (URSA).</p><p><b>METHODS</b>The HLA-DRB1 gene was typed with polymerase chain reaction-specific sequence primers (PCR-SSP) method in 200 couples with URSA and 200 couples with a normal pregnancy history.</p><p><b>RESULTS</b>The frequencies of DRB1*09 and DRB1*13 alleles were significantly greater in the URSA group compared with the control group (14.50% vs. 9.50%, and 7.00% vs. 4.38%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (7.13% vs. 10.75%, and 8.63% vs. 14.38%, both P<0.05). For females from the URSA group, the frequency of DRB1*09 allele (14.00%) was significantly higher compared with the controls (9.25%) (P=0.036), whilst the frequency of DRB1*12(8.50%) allele was significantly lower (14.00%) (P=0.014). For males in the URSA group, the frequencies of DRB1*09 and DRB1*13 alleles were significantly higher than those of the controls (15.00% vs. 9.75%, and 9.25% vs. 4.00%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (5.75% vs. 12.25%, and 8.75% vs. 14.75%, P<0.05).</p><p><b>CONCLUSION</b>The DRB1*09 and DRB1*13 alleles may contribute to the susceptibility of URSA, while DRB1*04 and DRB1*12 alleles may confer a protective effect factors. For females, however, no significant association of DRB1*13 and DRB1*04 alleles with URSA was found.</p>


Subject(s)
Abortion, Spontaneous , Ethnology , Genetics , Alleles , Asians , Ethnology , Genetics , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , HLA-DRB1 Chains , Genetics , Humans , Male , Polymorphism, Single Nucleotide , Pregnancy , Young Adult
13.
Article in Chinese | WPRIM | ID: wpr-321385

ABSTRACT

The growing status of Anoectochilus roxburghii seedling was observed and the survival rate of seedlings, height, stem diameter and plant fresh weight under the conditions of different transplanting substrate compositions, planting density, shading rate were measured. The results showed that the effects of different transplanting substrates, planting densities, shading rates and nutrient solutions on the growing status of A. roxburghii plantlets varied greatly. A. roxburghii plantlets demonstrated a high survival rate and better growing status under the Following conditions: the ratio of peat and river sand as 2: 1, the planting density as 3 cm x 3 cm, the shading rate as 70%, and the nutrient solution as 1/4MS. The findings of the study provide a solid technical solution for the artificial cultivation of A. roxburghii plantlets.


Subject(s)
Breeding , Methods , Culture Media , Chemistry , Pharmacology , Orchidaceae , Seedlings , Survival Analysis
14.
Article in Chinese | WPRIM | ID: wpr-439825

ABSTRACT

Objective To explore pathogenes and pathogenesis of acute cerebral infarction (ACI) from the perspective of integrated traditional and western medicine.Methods To categorize the tongue and pulse manifestation of 64 ACI patients and calculate their frequency,constituent ratios.Meanwhile,patients' blood pressure and laboratory examination results are given descriptive and statistical analysis,showing their means and standard deviations,etc.Results The frequency of dark-red tongue,thin-greasy tongue fur,greasy-yellow tongue fur and taut-slippery is respectively 48,34,20,and 41,constituting 77.4%,54.8%,32.3%,64.1% of the patients examined respectively; Mean and standard deviation of systolic blood pressure (SBP),total cholesterol (TC),white blood cell (WBC),neutrophil percentage (NEUT%),fasting plasma glucose (FPG),and hemoglobin A1c (HbA1c) is respectively (141.20± 19.20)mm Hg (1 mm Hg=0.133 kPa)、(4.47±0.97) mmol/L、(7.83±2.63) × 109/L、(71.61±9.65)%、(6.16±2.25)mmol/L、and (6.60±1.66)%.Conclusion In terms of pathogens,wind,stasis,heat (fire) and turbid pathogen (phlegm,dampness,etc.) are important factors in bringing out ACI; In respect of ACI pathogenesis characteristics,healthy qi is slightly damaged and pathogenic qi is exuberant.Yet,the role of modern medical examination results,such as blood pressure,blood glucose,blood lipids etc.in the assessment of ACI pathogens and pathogenesis awaits further exploration.

15.
Article in Chinese | WPRIM | ID: wpr-232209

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the efficiency of multiplex ligation-dependent probe amplification (MLPA) combined with short tandem repeat (STR) linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Gender of the fetus was first determined by the presence of Y chromosome sex-determining gene (SRY). Subsequently, combined MLPA and STR linkage analysis were applied for the probands, pregnant women and fetuses in 45 affected families.</p><p><b>RESULTS</b>Among the 45 families, 31 SRY-positive fetuses were identified, among whom six were diagnosed with DMD. For 14 SRY-negative fetuses, four were diagnosed as carriers. The remainders were normal.</p><p><b>CONCLUSION</b>MLPA can detect mutations in the exons of dystrophin gene, whilst STR linkage analysis can determine whether the fetus has inherited the maternal X chromosome bearing the mutant gene. As the result, the method can detect affected fetuses in which no exonic mutations are detected with MLPA. By combining the two methods, the diagnostic rate for DMD can be greatly improved.</p>


Subject(s)
Dystrophin , Genetics , Exons , Female , Genetic Linkage , Heterozygote , Humans , Male , Microsatellite Repeats , Multiplex Polymerase Chain Reaction , Muscular Dystrophy, Duchenne , Diagnosis , Genetics , Mutation , Pregnancy , Prenatal Diagnosis
16.
Article in Chinese | WPRIM | ID: wpr-430032

ABSTRACT

Objective To investigate the clinical value of non-invasive prenatal diagnosis using cell free fetal DNA(cff-DNA)in maternal blood.Methods From Sep.2010 to Mar.2012,103 pregnant women who came to Henan Province People's Hospital in the first trimestcr for prenatal diagnosis of scx-linked inherited diseases were included in the first trimester group.From Oct.2010 to Jan.2012,205 pregnant women undergoing amniotic fluid sampling for fetal karyotype analysis in the same hospital were included in the second trimester group.Real time quantitative PCR and fluorescent PCR were used to detect sex determining region of Y chromosome gene(SRY)and amelogenin gene(AML)on cff-DNA of the first trimester group.Moreover,12 Y chromosome STR loci analysis were performed for 33 male fetuses and their fathers.Massively Parallel Signature Sequencing(MPSS)was used for aneuploidy analysis in cff-DNA of the second trimester group.Results(1)In the first trimester group,there were 53 SRY positive and 50 SRY negative.Compared with the results of cff-DNA of chorionic villus samples,there was one SRY false positive and one false negative results,with a sensitivity of 98% and specificity of 98%.For the AML gene test,there were two PCR products of male fetuses:102 bp fragment originating from X chromosome(AML X)and 108 bp fragment from Y chromosome(AML Y);but only AML X was found in products from female fetuses.In the first trimester group,102 bp and 108 bp fragments were detected in 52 cases,and only 102 bp fragment was found in the other cases.Compared to AML results from chorionic villus samples,there were 2 false negative results,with a sensitivity of 96% and specificity of 100%.(2)For cff-DNA with plasma SRY over 30 copy/ml,Y STR loci were analyzed on cff-DNA of 33 fetuses and their fathers.The Y STR loci less then 200 bp were successfully detected,while Y STR loci with PCR products between 200-300 bp showed low signal or could not be amplicated;and no PCR products more than 300 bp were detected from cff-DNA.Comparing the detected Y STR loci of cff-DNA to the fathers,32 fetuses were concordant with their fathers'.Exogenous contamination was found in the rest one sample.(3)In the second trimester group,6 fetuses with abnormal karyotype(two trisomy 21,three trisomy 18 and one 45,XO)were detected by cff-DNA and were proved by karyotype analysis.Moreover,the MPSS results of cff-DNA revealed one 45,Y and one trisomy 16 whose karyotype analysis showed normal results.And in one case,MPSS suggested less chrX or chrY,that was proved to be 47,XYY by karyotype analysis.Conclusions(1)Cff-DNA in maternal blood can be used to determine fetal gender in early prenancy with considerable sensitivity and specificity.But the trace cff-DNA and the high maternal DNA background might have impact on the result.(2)Analysis of cff-DNA in maternal blood of the second trimester women showed that MPSS could be used for prenatal screening of trisomy 21 and trisomy 18.However,further research should be done for other chromosomes aneuploidy detection.

17.
Article in Chinese | WPRIM | ID: wpr-423618

ABSTRACT

Objective To explore the relationship between the polymorphism of methionine synthase reductase(MTRR) A66G and the susceptibility to unexplained repeated spontaneous abortion (URSA).Methods Total of 200 Henan Han couples with URSA (URSA group) and 76 Henan Han healthy couples without URSA (control group)were enrolled in this study.Their MTRR A66G genotypes were determined by PCR restriction fragment length polymorphism (PCR-RFLP).Results (1) The allele frequencies of MTRR A66G:the frequencies of allele A and allele G in URSA group were 76.5% (153/200)in husband and 72.8% (146/200) in wife,23.5% (47/200) in husband and 27.2% (54/200) in wife,respectively.The frequencies of allele A and allele G in control group were 78.9% (60/76) in husband and 78.3% (59/76) in wife,21.1% (16/76) in husband and 21.7% (16/76) in wife,respectively.The frequencies of allele A and allele G were not significantly different between female and male subjects within the same experimental group (P > 0.05),and also there were not significantly different between the same gender subjects at URAS and control groups(P > 0.05).(2) The genotype frequencies of MTRR A66G:the frequencies of genotype AA,AG and GG in URSA group were 57.0% (114/200) in husband and 52.0% (104/200) in wife,39.0% (78/200) in husband and 41.5% (83/200) in wife,4.0% (8/200) in husband and 6.5% (13/200) in wife,prepectively.The frequencies of genotype AA,AG and GG in control group were 59.2% (45/76) in husband and 59.2% (50/76) in wife,39.5% (30/76) in husband and 38.2% (29/76) in wife;1.3 % (1/76) in husband and 2.6% (2/76) in wife,prepectively.The frequencies of genotype AA,AG and GG were not significantly different between female and male subjects within the same group (P > 0.05),and also there were not significantly different between the same gender subjects at URSA and control groups (P >0.05).(3) Combined genotype of couples:the combined genotype frequencies of GG + GG,GG + AG,GG +AA,AG + AG,AG + AA and AA + AA in URSA group were 1.0% (2/200),2.5% (5/200),6.0% (12/200),20.0% (40/200),38.0% (76/200),and 32.5 % (65/200),prepectively ; the combined genotype frequencies in control group were 0,1.3% (1/76),2.6% (2/76),17.1% (13/76),42.1% (32/76),36.8% (28/76),prepectively.The combined genotype analysis between the two groups were also not significantly different (P > 0.05).Conclusion The polymorphism of MTRR A66G gene was not associated with the susceptibility to URSA (P > 0.05),and so it was not the inherited genetic risk factor of URSA.

18.
Chinese Acupuncture & Moxibustion ; (12): 1071-1074, 2012.
Article in Chinese | WPRIM | ID: wpr-246327

ABSTRACT

<p><b>OBJECTIVE</b>To verify the efficacy on Parkinson's disease combined with depression treated with electroacupuncture and medication and to explore the therapeutic mechanism.</p><p><b>METHODS</b>Sixty cases of Parkinson's disease combined with depression were randomized into an acupuncture + medication group and a medication group, 30 cases in each one. The conventional therapeutic program of oral administration of madopar and fluoxetine was applied in both groups. In the acupuncture + medication group, on the basic treatment as the above, electroacupuncture was applied to Baihui (GV 20), Yintang (EX-HN 3), Sishencong (EX-HN 1), Taichong (LR 3) and Sanyinjiao (SP 6), etc. The level of the serum brain-derived neurotrophic factor (BDNF) and the score of Hamilton depression scale (HAMD) were observed and compared before treatment and after 3 months of treatment. The efficacy was assessed in two groups.</p><p><b>RESULTS</b>The level of BDFN was improved significantly after treatment as compared with that before treatment in two groups (both P < 0.05) and the result in the acupuncture + medication group was superior to the medication group (P < 0.05). HAMD scores were reduced significantly after treatment as compared with those before treatment in two groups (both P < 0.05) and the result in the acupuncture + medication group was superior to the medication group (P < 0.05). The total effective rate was 90.0% (27/30) in the acupuncture + medication group, which was better than 83.3% (25/30) in the medication group (P < 0.05).</p><p><b>CONCLUSION</b>The combined therapy of electroacupuncture and medication achieves the significant efficacy on Parkinson's disease combined with depression. This therapy regulates effectively serum BDNF level, relieves depression symptoms of the patients. The efficacy of electroacupuncture combined with medication is superior to the simple medication.</p>


Subject(s)
Acupuncture Points , Adult , Aged , Brain-Derived Neurotrophic Factor , Blood , Depression , Blood , Therapeutics , Electroacupuncture , Female , Humans , Male , Middle Aged , Parkinson Disease , Blood , Therapeutics
19.
Article in Chinese | WPRIM | ID: wpr-349031

ABSTRACT

<p><b>OBJECTIVE</b>To identify the gene causing hereditary multiple exostoses in a Chinese pedigree.</p><p><b>METHODS</b>Linkage analysis was carried out in the family using microsatellite markers close linkage to the EXT1 and EXT2 genes to define the candidate gene. Then the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced.</p><p><b>RESULTS</b>The disease-causing gene of the family was linked to the EXT2 gene. A nonsense mutation of 536G>A in exon3 of the EXT2 gene was detected, which was co-segregated with the disease phenotype. The mutation resulted in a stop codon in codon 180. A nonpenetrant case was found in the family.</p><p><b>CONCLUSION</b>The mutation 536G>A in the EXT2 gene is the disease-causing mutation in the pedigree with hereditary multiple exostoses.</p>


Subject(s)
Adolescent , Adult , Asians , Genetics , Base Sequence , Child , Child, Preschool , China , Codon, Nonsense , Exostoses, Multiple Hereditary , Genetics , Female , Humans , Infant , Male , Molecular Sequence Data , N-Acetylglucosaminyltransferases , Genetics , Pedigree , Young Adult
20.
Article in Chinese | WPRIM | ID: wpr-329389

ABSTRACT

<p><b>OBJECTIVE</b>To study the prokaryotic expression of extracellular ligand binding domains of chick tie-2, the purification, refolding conditions of the recombinant protein, and its anti-angiogeneic effect.</p><p><b>METHODS</b>A DNA fragment encoding extracellular ligand binding domains of chick tie-2 was obtained by PCR amplification using a previous constructed plasmid as a template. The amplified fragment was then inserted into prokaryotic expression vector pQE30, and was expressed in E.Coli XL-1 blue by adding isopropyl-beta-D-thiogalactoside(IPTG). The recombinant protein in inclusion bodies was purified by nickel-nitrilotriacetic acid (Ni-NTA) affinity chromatography under denatured conditions. Then the refolding of the purified protein was performed with gradient dialysis. The target protein was injected s.c. into mouse, and the antibody was detected by ELISA and Western blot analysis. The antibody was purified from the antiserum and then incubated with human umbilical endothelial vein cell (HUEVC) to find its anti-angiogenesis in vitro by using propidium iodide(PI) dying through FACS. Alginate encapsulated tumor cell assays were performed and micro-vessel density was determined by counting per high power field in the sections stained with an antibody reactive to CD31 to test its inhibition of angiogenesis.</p><p><b>RESULTS</b>The recombinant protein was highly expressed in E.Coli XL-1 blue, and the antibody produced in mouse could specifically recognize the recombinant protein. The purified antibody could induce apoptosis of HUEVC in vitro. The anti-angiogenic effect of the antibody could also be found in alginate-encapsulate tumor cell assay and by counting micro-vessel density.</p><p><b>CONCLUSION</b>The protein of extracellular ligand binding domains of chick tie-2 can be expressed at high level in the prokaryotic expression system, and the expressed protein can induce immune response in mouse. Furthermore, the antibody can induce the anti-angiogenic effect.</p>


Subject(s)
Angiogenesis Inhibitors , Pharmacology , Animals , Binding Sites , Blotting, Western , Chickens , Enzyme-Linked Immunosorbent Assay , Escherichia coli , Genetics , Mice , Mice, Inbred BALB C , Mice, Inbred C57BL , Platelet Endothelial Cell Adhesion Molecule-1 , Receptor, TIE-2 , Chemistry , Metabolism , Recombinant Proteins , Pharmacology
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