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Objective To establish a ultra performance liquid chromatography(UPLC)fingerprint of extract of Cuscutae Semen,and analyze the relationship between the UPLC fingerprint and antioxidant activity.Methods The fingerprint of 11 batches of extract of Cuscutae Semen were determined by UPLC method,the antioxidant activity of Cuscutae Semen in vitro was determined by 1,1-diphenyl-2-picrylhydrazine radical,2,2-diazo-bis(3-ethylbenzothiazole-6-sulfonic acid)diamine salt,and the correlation between the fingerprints and antioxidant activity was analyzed by orthogonal partial least squares(OPLS)and gray correlation method.The key substances that contributed greatly to the antioxidant activity were selected.Results The extract of Cuscutae Semen contains 21 common peaks,all of which exhibited a similarity of more than 0.97.By comparing with the reference sample,10 peaks were identified,of which peak 5 was neochlorogenic acid,peak 8 was chlorogenic acid,peak 9 was cryptochlorogenic acid,peak 10 was caffeic acid,peak 12 was coumaric acid,peak 15 was hyperin,peak 16 was isoquercitrin,peak 17 was astragaloside,peak 20 was quercetin,and peak 21 was kaempferol.According to the grey correlation degree and OPLS results,the peaks 8,15,16 and 18 were positively correlated with the antioxidant activity,and were thus considered to be main effective components.Conclusion The antioxidant activity of Cuscutae Semen is the result of the combined effect of multiple components.The fingerprint and antioxidant spectrum analysis can provide evidential reference for further research of Cuscutae Semen.
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Fifteen batches of Glycyrrhizeae Radix standard decoction were prepared for determination of the content of the glycyrrhizic acid and liquiritin, then the transfer rate and the extract rate were calculated and a method was established to analyze the fingerprint by HPLC. According to the measurement of 15 batches of samples,the transfer rate of the glycyrrhizic acid and liquiritin were 59.4%-87.4% and 49.8%-78.9% with extract rate of 29.9%-38.9%. Moreover,10 common chromatographic peaks were determined based on their fingerprint by using similarity evaluation system for chromatographic fingerprint of traditional Chinese medicine (TCM)(2012A) .The similarity results of 15 batches of samples were analyzed and compared,and the results showed that the similarity was all higher than 0.9. Fifteen batches of samples,prepared by a standard method,have stable quality and the high similarity.The method displayed good precision,stability and repeatability in fingerprint analysis. Therefore,this study can provide a reference for the quality control of Glycyrrhizae Radix dispensing granules.
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<p><b>OBJECTIVE</b>To study the effect of liposomal transfection of antisense oligonucleotide (ASON) on the erythroid cell alpha-globin gene in the patients with severe beta-thalassemia, and provide a new idea for beta-thalassemia gene therapy.</p><p><b>METHODS</b>A highly effective ASON targeting alpha-globin gene was transfected into severe beta-thalassemic erythroid cells cultured in vitro by liposomal at an optimal concentration. The expression level of alpha, beta, gamma-globin gene, the level of hemoglobin, and the excess alpha-globin chains precipitates in ASON group and control group were carefully analyzed by quantitative real-time PCR(Q-RT-PCR), high performance liquid chromatography (HPLC), and electron microscope, respectively.</p><p><b>RESULTS</b>The mRNA expression of alpha-globin gene was significantly lower in ASON group (9.04 +/- 0.29) than in control group (24.23 +/- 0.29) (P<0.01). Simultaneously, the disequilibrium between alpha- and beta-, gamma-globin gene expression was partly modified by ASON, the ratios of ASON group and control group being 0.79 +/- 0.02 and 2.26 +/- 0.06 respectively (P<0.01). HPLC demonstrated that the levels of HbA2 and HbF increased with downregulation of alpha-globin gene in beta-thalassemic erythroid cells, particularly HbF. The precipitates of alpha-globin chains in ASON group were lessened under electron microscope, particularly in early erythroblast while no change in the control group.</p><p><b>CONCLUSION</b>The high effective ASON contributes to inhibit the alpha-globin gene expression of severe beta-thalassemic erythroid cells, partly modify the disequilibrium between alpha-, beta- and gamma-globin gene expression and obviously reduce the precipitates of alpha-globin chains in erythroid cells. It might provide a new idea for gene therapy of beta-thalassemia.</p>
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Criança , Humanos , Células Cultivadas , Terapia Genética , Lipossomos , Oligonucleotídeos Antissenso , Genética , Transfecção , alfa-Globinas , Genética , Metabolismo , Globinas beta , Metabolismo , Talassemia beta , Genética , Metabolismo , Terapêutica , gama-Globinas , MetabolismoRESUMO
<p><b>OBJECTIVE</b>To explore a new noninvasive method for Hb Bart' s hydrops fetus by using PCR amplification efficiency discrimination between cell-free fetal DNA (cffDNA) and cell-free maternal DNA in maternal plasma.</p><p><b>METHODS</b>CffDNA samples from pregnant women bearing possible Hb Bart's hydrops fetus were collected. Fluorescent PCR and capillary electrophoresis (CE) were performed. Hb Bart's hydrops fetus was conclusively identified by different peak area ratio of products.</p><p><b>RESULTS</b>The peak area ratio of 30 cffDNA samples from Hb Bart' s hydrops fetus was much less than 1. However, the ratio of cffDNA sample from hydrops fetus due to other reasons was approximately equal to 1.</p><p><b>CONCLUSION</b>By using cffDNA fluorescent PCR and CE, a prenatal screening method for Hb Bart' s hydrops fetus was developed.</p>
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Feminino , Humanos , Gravidez , Síndrome de Bartter , Diagnóstico , DNA , Sangue , Hidropisia Fetal , Diagnóstico , Dados de Sequência Molecular , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Diagnóstico Pré-Natal , MétodosRESUMO
Objective To conduct research of β-Thalassemia incidence and genotypes on children below 7 years of age in Nanning, Liuzhou and Baise areas, Guangxi province. Methods A total of 2261 children aged below 7 in Nanning, Liuzhou and Baise areas were studied. Venous blood was detected by routine blood test, hemoglobin analysis and β-Thalassemia genotyping. Results Among 2261 samples, 125 showed high level of HbA2 and were diagnosed as β-Thalassemia (5.53%). Genotypes of the patients were classified as: 59 cases with β-globin gene eondon (CD) 41-42 mutation, 33 cases CD17 mutation, 18 cases with TA TA box nt-28 mutation, 7 with IVS-Ⅱ-654 mutation, 3 with CD43 mutation, 3 with HbE mutation, one with CD71-72 and TATA box nt-29 mutation, respectively. The genotyping frequencies of β-Thalassemia were as follows: 47.20% for CD41-42 mutation, 26.40% for CD17 mutation, 14.40% for TATAbox nt-28 mutation, 5.60% for IVS-Ⅱ -654 mutation, 2.40% for CD43 mutation, 2.40% for HbE mutation, 0.80% for CD71-72 mutation and TATAbox nt-29 mutation respectively. Conclusion This study on children in the area with high incidence of β-Thalassemia reflected the incidence and characteristics of genotypes in this area. Our data also provided evidence for the development of a program on genetic counseling and prevention for thalassemia.
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<p><b>OBJECTIVE</b>To observe the prevalence of hypertension and associated risk factors in the Guangxi Bai Ku Yao populations.</p><p><b>METHODS</b>A total of 1170 subjects of Bai Ku Yao aged 15 and over were surveyed by a stratified randomized cluster sampling. Blood pressure, body height, weight, waist circumference, serum lipid and apolipoprotein levels were measured, and body mass index (BMI) were calculated, matched 1173 subjects of Han Chinese from the same region served as control.</p><p><b>RESULTS</b>The standardized prevalence of hypertension in Bai Ku Yao was significantly lower than that in Han (11.53% vs.16.79%, P < 0.01). The mean levels of systolic, diastolic blood pressure, and pulse pressure in Bai Ku Yao were also significantly lower than those in Han [(115.7 +/- 16.3) vs. (120.0 +/- 16.3) mm Hg (1 mm Hg = 0.133 kPa), P < 0.01; (74.1 +/- 9.4) vs. (75.9 +/- 10.4) mm Hg, P < 0.01; and (41.6 +/- 12.0) vs. (44.2 +/- 11.2) mm Hg, P < 0.01; respectively]. Hypertension was positively correlated with male, age, physical activity, BMI, waist circumference, and the intakes of total energy, total fat, and sodium, and negatively associated with education level in both ethnic groups (P < 0.05 - 0.01), but was positively associated with alcohol consumption only in Han. The rates of awareness, treatment and control of hypertension were significantly lower in Bai Ku Yao than those in Han population [(11.81% vs. 21.76%), P < 0.05; (5.51% vs. 12.95%), P < 0.05; and (2.36% vs. 8.29%), P < 0.05; respectively].</p><p><b>CONCLUSION</b>The prevalence of hypertension was significantly lower in Bai Ku Yao population than in Han population and diet, low sodium intake, life style, and genetic factors might be responsible for the lower hypertension prevalence in Bai Ku Yao population.</p>
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Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , China , Epidemiologia , Comportamento Alimentar , Hipertensão , Epidemiologia , Etnologia , Estilo de Vida , Prevalência , Fatores de RiscoRESUMO
<p><b>OBJECTIVE</b>To conduct prenatal diagnosis on the couples carrying Thailand deletion (--THAI) alpha-thalassemia 1 and at high risk of having fetus with alpha-thalassemia.</p><p><b>METHODS</b>Genotypes of couples and fetuses were analyzed by PCR and DNA sequencing.</p><p><b>RESULTS</b>Four pregnant women were patients with Hb H diseases of --THAI compounding with alpha-thalassemia 2, while their husbands were heterozygote of the Southeast Asian type alpha-thalassemia 1 (--SEA). Another 5 families, either husbands or wives were heterozygote of --THAI or --SEA. The genotypes of their fetuses were as follows: 2 cases with Hb Bart's hydrops fetalis syndrome, 1 Hb H disease, 4 alpha-thalassemia heterozygote and 2 normal. The DNA sequencing approved the PCR results.</p><p><b>CONCLUSION</b>The study on prenatal diagnosis of Thailand deletion alpha-thalassemia 1 is of importance to the genetic counseling and prenatal diagnosis of alpha-thalassemia.</p>
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Adulto , Feminino , Humanos , Masculino , Gravidez , Sequência de Bases , Doenças Fetais , Sangue , Diagnóstico , Genética , Genótipo , Hemoglobinas , Diagnóstico Pré-Natal , Análise de Sequência de DNA , Deleção de Sequência , Genética , Talassemia alfa , Sangue , Diagnóstico , GenéticaRESUMO
<p><b>OBJECTIVE</b>To investigate non-invasive prenatal genetic diagnosis of beta-thalassaemia using a single fetal nucleated erythrocyte (NRBC) from maternal blood by comparing with the genotype obtained from chorionic villus or amniocytes, and to evaluate the diagnostic results in reliability and feasibility of this method.</p><p><b>METHODS</b>Maternal blood samples were obtained from 28 pregnant women at risk of beta thalassaemia during 9 - 34 weeks of gestation. NRBCs in maternal blood were enriched by single density gradient separation, stained with benzidine, and then collected by micromanipulation individually. After primer extension preamplification (PEP) of the entire genome from each single NRBC, short tandem repeat (STR) genotype was analyzed after further amplification of this gene. Single NRBC was tested individually to identify if it was fetal or maternal in origin by STR genotype of NRBC and its corresponding parents. beta-globin DNA fragments were amplified with nested-PCR using PEP product of a single fetal NRBC that was determined to be fetal in origin. Fetal beta-globin genotypes were analyzed by reverse dot-blot hybridization (RDB), the accuracy was evaluated by comparing with genotype which had been determined on DNA obtained from chorionic villus (CVS) or amniocytes.</p><p><b>RESULTS</b>A total of 298 NRBCs were found in all of 28 pregnant women at a range of 4 to 13 per 5 ml venous blood. After PEP, about 43.6% of NRBCs were determined to be fetal in origin by STR typing. Using PEP product of a single fetal NRBC as template, beta-globin DNA fragment was examined on agarose gel after nested-PCR, amplification efficiency was 90.8% (118/130). Fetal beta-globin genotypes were achieved successfully in all cases with RDB. Comparing with the genotypes which were obtained from CVS or amniocytes, the rate of diagnostic accuracy was 85.7% (24/28).</p><p><b>CONCLUSIONS</b>PEP technique and STR genotype analysis provide effective method for identification of single nucleated erythrocyte from maternal blood in origin. With the techniques PEP and RDB, fetal beta-globin genetic diagnosis was achieved using a single fetal NRBC from maternal blood. The method had a high accuracy and reliability in diagnosis. It may become an optional approach to non-invasive prenatal diagnosis of beta-thalassemia.</p>
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Adulto , Feminino , Humanos , Gravidez , Primers do DNA , Eritroblastos , Fisiologia , Repetições de Microssatélites , Genética , Terceiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Métodos , Técnicas do Sistema de Duplo-Híbrido , Talassemia beta , Diagnóstico , GenéticaRESUMO
<p><b>OBJECTIVE</b>To study the relationship between the polymorphism of the variable number of tandem repeats region 3' of the apolipoprotein B gene (3'APOB-VNTR) and serum lipid levels in the Guangxi Heiyi Zhuang population.</p><p><b>METHODS</b>A total of 548 people of Heiyi Zhuang nationatity were surveyed by a cluster sampling. Epidemiological data were collected and serum lipid and apolipoprotein levels were measured. The genotypes and alleles of the 3' APOB-VNTR were determined by polymerase chain reaction combined with gel electrophoresis, and then analyzed by direct sequencing in the most common alleles. The results were compared with those in 496 people of Han nationality also live in that district.</p><p><b>RESULTS</b>There were 19 alleles of the 3'APOB-VNTR in both ethnic groups. They were hypervariable elements (HVEs) 24, 26, 28, 30, 32, 34, 36, 38, 40, 42, 44, 46, 48, 50, 52, 54, 56, 58, 60, 62 and 64, but HVEs 56 and 58 in Heiyi Zhuang nationality and HVEs 48 and 62 in Han nationality were not be detected. The most common allele is HVE32 in Heiyi and Zhuang nationality (25.9%), and HVE34 in Han nationality (27.2%). The frequencies of HVEs 26, 30, 46, heterozygote, and short alleles (< 38 repeats, S) were higher in Heiyi Zhuang nationality than in Han nationality, whereas the frequencies of HVEs 34, 38, 40, homozygote, and long alleles (>or= 38 repeats, L) were lower in Heiyi Zhuang nationality than in Han nationality. The levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) B in Heiyi Zhuang nationality were higher in VNTR-LS (carrier of one long and one short alleles) than in VNTR-LL genotypes (the individual carrying two long alleles) genotypes. The levels of TC, triglycerides, HDL-C and apo B in Heiyi Zhuang nationality were also higher in homozygotes than in heterozygotes. There were no significant differences in the detected lipid parameters between the VNTR-SS (carrier of two short alleles) and VNTR-LS or VNTR-LL genotypes in both ethnic groups.</p><p><b>CONCLUSION</b>The 3'APOB-VNTR polymorphism is found to be significant difference between Heiyi Zhuang nationality and Han populations, and is associated with the serum lipid levels in Heiyi Zhuang nalionality but not in Han nationality.</p>
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Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Apolipoproteínas B , Genética , China , Etnologia , DNA , Etnicidade , Genética , Frequência do Gene , Lipídeos , Sangue , Repetições Minissatélites , Genética , Polimorfismo Genético , Sequências de Repetição em TandemRESUMO
Objective To analyze genetic and clinical features of 14 children with ?-thalassemia intermedia in Guangxi area.Methods ?-thalassemia genes,?-thalassemia genes,single nucleotide polymorphism(SNP) at position-158 of()~G?-globin gene,AT repeats polymorphisms of DNase I-hypersensitive site 2 of the ?-globin gene cluster locus control region(?-LCR-HS2) were detected by PCR techniques.Clinical data were analyzed.Results Genotype:1.Seven cases were homozygous or compound heterozygous for nt-28(A→G).Among them,2 cases′ genotypes were nt-28/nt-28,1 case was ?~E/ nt-28,2 cases were ?~0/nt-28,1 case(?~0/nt-28) co-inherited()~G?158(T) and 1 case(?~0/nt-28) co-inherited simultaneously()~G?-158(T) and——SEA ?-thalassemia-1 genes.2.Three cases with ?~0/?~0 presented()~G?-158(T),and other 3 cases co-inherited——SEA ?-thalassemia-1 genes.3.One patient with ?~0/?~0 co-inherited()~G?-158(T) and——SEA ?-thalassemia-1 genes.4.Six cases carrying()~G?-158(T) had(AT)_9 N_(12)(AT)_(10) sequences in ?-LCR-HS2.Phenotype:The values of Hb,MCV,HbF of 14 patients were(75.9?9.7) g/L,(68.9?5.9) fL,66.9%?16.3%,respectively.Except for 2 cases with genotypes of nt-28/nt-28 and 1 case with ?~E/nt-28 who had never been transfused,the others had more severe symptoms and required irregularly transfusion.Conclusions In the 14 children with ?-thalassemia intermedia from Guangxi area,nt-28(A→G),()~G?-158(T) and——SEA ?-thalassemia-1 gene are main alleviating gene factors.Incidence of(AT)_9 N_(12)(AT)_(10) sequence in ?-LCR-HS2 in these patients is high.Patients who are homozygous for nt-28 or compound heterozygous for ?~E have milder phenotypes.
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<p><b>OBJECTIVE</b>To develop a method for identifying fetal nucleated erythrocytes (NRBCs) in maternal blood.</p><p><b>METHODS</b>NRBCs in maternal blood were detected by benzidine staining and collected by micromanipulation. After primer extension preamplification (PEP) of the entire genome from a single NRBC, short tandem repeat (STR) genotype was analysed after further amplification of this gene. Single NRBC was differentiated as fetal or maternal origin by comparison of STR genotype of NRBC with its corresponding parents.</p><p><b>RESULTS</b>NRBCs were found in all of 28 pregnant women in a range of 4 to 13 per 5 ml venous blood. About 43. 6% of NRBCs were determined to be fetal origin by STR typing.</p><p><b>CONCLUSION</b>This method provides effective identification of fetal NRBCs and allows non-invasive prenatal genetic diagnosis using single fetal NRBC.</p>
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Adulto , Feminino , Humanos , Masculino , Gravidez , Eritroblastos , Contagem de Eritrócitos , Feto , Biologia Celular , Repetições de Microssatélites , Análise de Sequência com Séries de Oligonucleotídeos , Diagnóstico Pré-Natal , Métodos , Talassemia beta , DiagnósticoRESUMO
Objective To evaluate the feasibility of cell free fetal DNA(cffDNA)-based noninvasive prenatal diagnosis,we developed a precise technique for fetal sex determining region of Y chromosome(SRY)gene detection using size-fractionated cell-free DNA in maternal plasma.Methods Peripheral blood samples were collected form 117 pregnant women.cffDNA was extracted based on a column absorbent method and isolated by agarose gel electrophoresis.A dulex-polymerase chain reaction(PCR)was used to detected SRY gene and glycerol-dehyde-phosphate dehydrogenase(GAPDH)gene.Results Both SRY and GAPDH gene were detected in 86 cffDNA samples from women bearing male fetuses.And only GAPDH gene was detected in 71 cffDNA samples from women bearing female fetuses.These results had a coincidence whit those of villus or amniotic fluid samples.The specificity and sensitivity reached 100%(117/117)and 100%(66/66),respectively.Conclusion By agarose gel electrophoresis,re-extratedand and dulex PCR,size-fractionated cell-free fetal DNA in maternal plasma can be selective enriched and used to noninvasive prenatal diagnosis of sex-linked disorders and single gene disorders.
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<p><b>OBJECTIVE</b>To study the prevalence rate of hypertension and the risk factors in Guangxi Hei Yi Zhuang population.</p><p><b>METHODS</b>A total of 1068 people of Hei Yi Zhuang nationality aged 20 and over were surveyed. Blood pressure, height, weight, serum lipid and apolipoprotein levels were measured ,and both body surface areas and body mass index were calculated. Results were compared with those in 933 people of Han nationality living in the same district.</p><p><b>RESULTS</b>The prevalence rates of hypertension in Hei Yi Zhuang population were significantly higher than that in Han population (25.2% vs. 17.3%, P < 0.001) ,as well as the isolated systolic hypertension (12.5% vs. 3.9%, P < 0.001). The mean levels of systolic pressure and pulse pressure in Hei Yi Zhuang population were significantly higher than those in Han population (125.20 +/- 18.62 vs. 121.88 +/- 15.99 mm Hg, P < 0.001 and 48.64 +/- 14.75 vs. 44.98 +/- 11.12 mm Hg, P <.001; respectively). The prevalence rate of hypertension in Hei Yi Zhuang population was positively correlated with triglyceride, sex and age whereas the prevalence rate of hypertension in Han population was positively correlated with total cholesterol, sex, age, and alcohol consumption. Rates of awareness on hypertension in Hei Yi Zhuang and Han population were 8.6% vs. 21.1% (P <.001), patients with treatment rate of established hypertension were 4.5 vs. 15.5 (P < 0.001) with the control rates as 1.9 vs. 10.6 (P < 0.001).</p><p><b>CONCLUSION</b>The prevalence rate of hypertension in Guangxi Hei Yi Zhuang population was significantly higher than that in Han ethnic group. The causes of high prevalence rate of hypertension might be ascribed to special geographical surroundings, unhealthy life style, high sodium intake, low education, and possibly genetic factors. The rates on awareness, treatment and control of hypertension were still under satisfaction.</p>
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Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , China , Epidemiologia , Etnologia , Etnicidade , Conhecimentos, Atitudes e Prática em Saúde , Hipertensão , Epidemiologia , Terapêutica , Modelos Logísticos , Análise Multivariada , Características de Residência , Fatores de RiscoRESUMO
<p><b>OBJECTIVE</b>To investigate the levels of blood pressure and serum lipids, and examine the relationship between hypertension and hyperlipidemia in Hei Yi Zhuang Chinese living in Guangxi.</p><p><b>METHODS</b>A total of 1056 people of Hei Yi Zhuang ethnicity were studied. Blood pressure, body height, body weight, and serum levels of lipids and apolipoprotein were measured. The data were compared with those in 925 people of Han ethnicity, who live in the same region.</p><p><b>RESULTS</b>Systolic blood pressure and pulse pressure were significantly higher in Hei Yi Zhuang than Han Chinese (P < 0.001). The prevalence of isolated systolic hypertension and hypertension was also significantly higher in Hei Yi Zhuang than Han Chinese (P < 0.001). Serum concentrations of total cholesterol, triglycerides, low-density lipoprotein cholesterol, and apolipoprotein (Apo) B, and the prevalence of hypercholesterolemia and hyperlipidemia were significantly lower in Hei Yi Zhuang than Han Chinese (P < 0.05). Serum concentrations of high-density lipoprotein cholesterol and the Apo A1 to Apo B ratio were significantly higher in Hei Yi Zhuang than Han Chinese (P < 0.001). The prevalence of hypertension in Hei Yi Zhuang Chinese was positively associated with triglycerides (r = 0.425, P < 0.05), whereas the prevalence of hypertension in Han Chinese was positively correlated with total cholesterol (r = 0.623, P < 0.001).</p><p><b>CONCLUSION</b>The present study revealed a significant difference in blood pressure and serum lipids between Hei Yi Zhuang and Han ethnic groups, and an association between hypertension and hyperlipidemia.</p>
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Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Povo Asiático , Etnologia , Pressão Sanguínea , China , Epidemiologia , Hiperlipidemias , Epidemiologia , Etnologia , Hipertensão , Epidemiologia , Etnologia , Lipídeos , Sangue , Prevalência , Estudos de AmostragemRESUMO
<p><b>OBJECTIVE</b>To analyze the relationship between genotype and phenotype of homozygous hemoglobin Constant Spring (Hb CS) in Guangxi province, and to explore the reasons of missed diagnosis and the methods for screening and diagnosing.</p><p><b>METHODS</b>Screening Hb CS by acetate fibrous membrane electrophoresis with benzidine staining. Gene mutation of homozygous Hb CS by polymerase chain reaction (PCR) and DNA sequencing.</p><p><b>RESULTS</b>Out of the 9 patients, 4 had no clinical symptoms, 2 showed mild anemia and splenomegaly, 3 were jaundice. Hemoglobin levels were normal or mild anemia. MCVs were normal or reduced. Peripheral blood smear of all the patients displayed hypochromia, anisocytosis, poikilocytosis and target cells. The quantities of HbA(2) + Hb CS were 4.3% - 6.72%, while HbA(2) < 2%. Gene analysis confirmed the diagnosis of homozygous Hb CS.</p><p><b>CONCLUSION</b>There was quite different in clinical symptoms, hematological parameters and hemoglobin quantifications for patients with homozygous Hb CS. They might have no clinical and hematological signs and looked like the phenotype of Hb H disease. Homozygous Hb CS was very easy to miss diagnosis. Gene analysis can be helpful.</p>
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Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Hemoglobinas Anormais , Genética , Mutação , Talassemia alfa , GenéticaRESUMO
<p><b>OBJECTIVE</b>To compare the prevalence of Helicobacter pylori (Hp) infection in children of Zhuang and Mulan ethnic groups, Guangxi Luocheng county, China and in children of Jing ethnic group, Central Vietnam and to analyze the association of HLA-DQA1 alleles of these ethnic groups' children with Hp infection.</p><p><b>METHODS</b>Serodiagnosis by determining Hp antibody with ELISA and determination of serum CagA, VacA and urease antibodies by immunoblotting were performed for 54 Zhuang, 76 Mulan and 109 Jing children. Polymerase chain reaction-single strand polymorphism (PCR-SSP) technique was applied to determine the polymorphism of the HLA-DQA1 locus of these children and then the association of HLA-DQA1 alleles of these minority children with Hp infection was analyzed by SAS software.</p><p><b>RESULTS</b>The prevalence of Hp infection were 39% in Vietnamese Jing nationality, which was significantly lower than that in children of Guangxi Luocheng county (65% in Zhuang nationality and 58% in Mulan nationality) (P < 0.01). The distribution of HLA-DQA1 locus was not significantly different among the 3 groups. The frequency of HLA-DQA1 * 0104 allele was significantly higher in children with Hp infection than in children without Hp infection in each of the 3 groups (P < 0.01).</p><p><b>CONCLUSION</b>The results indicated that the prevalence of Hp infection in Zhuang and Mulan minority ethnic groups in Guangxi, China was higher than that in Vietnamese Jing ethnic group children. HLA-DQA1 * 0104 allele may be associated with susceptibility to Hp infection.</p>
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Criança , Humanos , Alelos , China , Epidemiologia , Antígenos HLA-DQ , Genética , Cadeias alfa de HLA-DQ , Infecções por Helicobacter , Epidemiologia , Genética , Microbiologia , Helicobacter pylori , Polimorfismo Genético , Prevalência , Vietnã , EpidemiologiaRESUMO
<p><b>OBJECTIVE</b>To investigate the relationship of beta-thalassemia mutations and the single nucleotide polymorphism(SNP) at position -158 of (G)Gamma-globin gene to the altered levels of fetal hemoglobin(Hb F) of beta-thalassemia heterozygotes.</p><p><b>METHODS</b>Hb F was quantitated by alkali denaturation; beta-thalassemia mutations were determined by PCR-allelic specific oligonucleotide(PCR-ASO). The SNP at -158 was analyzed by amplification of (G)Gamma gene promoter fragments from the DNA, followed by Xmn I restriction enzyme digestion.</p><p><b>RESULTS</b>Among 63 cases with beta-thalassemia trait, 15 had Hb F levels above 2% (2.06%-10.44%). Six beta-thalassemia mutations were observed in this study, namely CD41/42(-TTCT), CD17(A-->T), nt28 (A-->G), CD71/72(+A), IVS-II-654(C-->T) and IVS-I-1(G-->T). There was no difference in the incidence of beta-thalassemia heterozygotes of CD41/42, CD17, CD71/72 and IVS-II-654 between 15 cases with Hb F>/=2% and 48 cases with Hb F<2%. Ten (15.9%) heterozygotes of (G)Gamma-158(C-->T)were detected among 63 cases, and 8 of them (53.33%) belonged to the group of Hb F>/=2% while the remaining 2 cases (4.17%) were in the group of Hb F<2%.</p><p><b>CONCLUSION</b>beta-thalassemia mutations of CD41/42, CD17, CD71/72, IVS-II-654 had no influence on Hb F levels, but (G)Gamma-158(C-->T) had a strong association with moderately increased Hb F levels in beta-thalassemia heterozygotes in the Guangxi area of China.</p>
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Adulto , Feminino , Humanos , Masculino , Gravidez , Hemoglobina Fetal , Genética , Heterozigoto , Mutação , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Talassemia beta , Genética , gama-Globinas , GenéticaRESUMO
0.05 for all).Conclusions The allelic frequencies of LPL gene at Pvu Ⅱ locus in Hei Yi Zhuang were different from those in Han,but the genotypie frequencies in Hei Yi Zhuang were not different from those in Han.There was no significant correlation between the polymorphism of LPL gene at Pvu Ⅱ site and the serum lipid levels in two ethnic groups.
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Objective To study the distribution of apolipoprotein E(apoE) genotypes and alleles in children with primary nephrotic syndrome(PNS),and to investigate the relationship between apoE gene polymorphism and disturbance of serum lipid metabolism.Methods Forty-six children with PNS were compared with 39 age-sex-matched healthy children.Serum levels of total cholesterol(TC),triglyeride(TG),high density lipoprotein-cholesterol(HDL-C),low density lipoprotein-cholesterol(LDL-C),apoA_1,apoB and apoA_1/B were detected,and polychain reaction single-strand conformation polymorphism(PCR-SSCP) combined with gene sequence determination was used to confirm the apoE genotypes in two groups.Results 1.Serum TC,TG,HDL-C,LDL-C,apoB and apoA_1/B in PNS group were higher than those of control group,respectively(P
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Objective:To investigate the polymorphism of HLA-DQA1 genes in Jing nationality of Central Vietnam.Methods:Applied PCR-SSP tecnique to determine the polymorphism of the HLA-DQA1 alleles of 105 healthy children and youth,unrelated individuals in Central of Vietnam.Results:10 HLA-DQA1 alleles were detected of which DQA1*0104 were the most common allele with frequency of 21.3% and lowest frequency is DQA1*0601.Conclusion:The results indicate that HLA-DQA1 alleles polymorphism of Jing nationality in Central Vietnam is different from the other Chinese. [