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Form Gene Clustering Method about Pan-Ethnic-Group Products Based on Emotional Semantic 被引量:6
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作者 CHEN Dengkai DING Jingjing +2 位作者 GAO Minzhuo MA Danping LIU Donghui 《Chinese Journal of Mechanical Engineering》 SCIE EI CAS CSCD 2016年第6期1134-1144,共11页
The use of pan-ethnic-group products form knowledge primarily depends on a designer's subjective experience without user participation. The majority of studies primarily focus on the detection of the perceptual deman... The use of pan-ethnic-group products form knowledge primarily depends on a designer's subjective experience without user participation. The majority of studies primarily focus on the detection of the perceptual demands of consumers from the target product category. A pan-ethnic-group products form gene clustering method based on emotional semantic is constructed. Consumers' perceptual images of the pan-ethnic-group products are obtained by means of product form gene extraction and coding and computer aided product form clustering technology. A case of form gene clustering about the typical pan-ethnic-group products is investigated which indicates that the method is feasible. This paper opens up a new direction for the future development of product form design which improves the agility of product design process in the era of Industry 4.0. 展开更多
关键词 emotional semantic pan-ethnic-group products gene extract gene coding form gene clustering
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Correlation between the Xba Ⅰ polymorphism of apoB gene and serum lipid profiles in Li ethnic group 被引量:2
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作者 Yue-Li Liu Yun-Bo Zhang +5 位作者 Ying Li Rui-Lian Ma Wang-Wei Cai Li Lin-Jiang Tian-Song Wang Zhen Yao 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2014年第1期63-66,共4页
Objective:To study correlation between the Xba I polymorphism of apoB gene and plasma lipid profiles in Li ethnic group.Methods:Total 1S1 cases of healthy Li people were recruited randomly by cluster sampling and 200 ... Objective:To study correlation between the Xba I polymorphism of apoB gene and plasma lipid profiles in Li ethnic group.Methods:Total 1S1 cases of healthy Li people were recruited randomly by cluster sampling and 200 Han people were recruited as control;blood was drawn to analyze Xba I polymorphism distribution of apoB gene and serum lipid levels.Results:There were lower serum total cholesterol(TC)and low density lipoprotein cholesterol(LDL-C)levels in serum of Li people;while,high density lipoprotein cholesterol(HDL-C),X^-/X^-genotype and X^+allele frequencies exhibited higher levels than Han people.Interestingly,HDL-C level was reduced,while LDL-C level was enhanced in subjects carrying heterozygous(X^-/X^-)genotype compared to homozygous(X^-/X^-)genotype.Additionally,there were no difference in serum level of triglyceride,TC,apoprotein A(apo A)and apoprotein B(apo B)between Li and Han people,the same results were showed between X^-/X^+and X^-/X^-genotype carriers.Conclusions:XbaⅠpolymorphism of apoB gene is correlated to the profiles of serum lipid level,X^-/X^+genotype carriers are phenotyped with higher LDL-C level and lower level of HDL-C in Li ethnic group. 展开更多
关键词 Xba I POLYMORPHISM APOB gene LIPID profile LI ETHNIC group
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Genetic screening of 5 blood group systems of Li ethnic group in Hainan province and establishment of rare blood group bank
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作者 FU Xiao-ling CAI Xing-quan XIA Lan 《Journal of Hainan Medical University》 2022年第20期6-12,共7页
Objective:To screen the blood group system genes of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province and provide laboratory data for the rare blood group database in this ar... Objective:To screen the blood group system genes of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province and provide laboratory data for the rare blood group database in this area.Methods:The alleles of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of 300 voluntary participants of Li ethnic group in Hainan were detected by sequence-specific primer polymerase chain reaction,and the polymorphism was analyzed.Results:The allele frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic groups in Hainan Province are 0.9583 for Fy^(a),0.0417 for Fy^(b),0.8350 for Au^(a),0.1650 for Au^(b),0.4500 for Jk^(a),0.5500 for Jk^(b),0.0667 for Di^(a),0.9333 for Di^(b),0.1017 for Doa and 0.8983 for Dob,respectively.The antigen incompatibility rates of Fy^(a)/Fy^(b),Au^(a)/Au^(b),Jk^(a)/Jk^(b),Di^(a)/Di^(b),Doa/Dob of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems were 7.67%,23.76%,37.25%,11.67%and 16.60%,respectively.Conclusion:The gene frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province are polymorphic,and the antigen incompatibility rates of alleles are higher,which is quite different from that of other nationalities in China and with unique ethnic distribution characteristics.It is of great significance to establish the rare blood group database in this region. 展开更多
关键词 Blood group gene gene frequency Rare blood group bank Li ethnic
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The survey of the frequency of gene of ABO blood group in Dali
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《中国输血杂志》 CAS CSCD 2001年第S1期363-,共1页
关键词 ABO The survey of the frequency of gene of ABO blood group in Dali gene
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Observation on Baseline Sensitivity of <i>Erysiphe necator</i>Genetic Groups to Azoxystrobin
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作者 Hajaj Ramadan Hajjeh 《American Journal of Plant Sciences》 2012年第11期1640-1645,共6页
Powdery mildew, caused by Erysiph necator, is a common and severe fungal disease of grapevine all over the world. The disease costs millions of dollars to vine growers, due to intensive use of fungicides and yield los... Powdery mildew, caused by Erysiph necator, is a common and severe fungal disease of grapevine all over the world. The disease costs millions of dollars to vine growers, due to intensive use of fungicides and yield losses. Recently in population of E. necator two genetic groups have been described, the two groups seem to occupy different temporal niches, with a temporal alternation that is clear-cut in vineyards intensively treated with chemical fungicides. QoI-STAR (Quinol Outside Inhibitors-Strobilurin Type of Action and Resistance) fungicides are widely used to control the disease, and generally carry a high risk of pathogen resistance development. To clarify the behaviors of the biotrophic fungus when treated with azoxystrobin as a representative of QoI-STAR, baseline sensitivity of laboratory isolates were determined. A leaf bioassay and the primers RSCBF1 and RSCBR2 designed on the highly conserved regions of cytb gene in fungi were used. Partial sequence of E. necator cytb gene were obtained. Attempts to obtain a laboratory mutant were not totally successful. The sensitivity to azoxystrobin (EC50) in isolates of genetic group B was significantly higher than in isolates of group A, to which all the isolates collected later in the season belonged. The higher sensitivity to azoxystrobin fungicides observed in group B isolates can be at the basis of their precocious disappearance in vineyards, and can have important implications for powdery mildew control strategies. 展开更多
关键词 Powdery MILDEW FUNGICIDE Sensitivity QoI-STAR FUNGICIDE genetic groups cytb gene
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Polycomb Group蛋白复合体与干细胞的发育调控 被引量:1
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作者 黄冰洋 潘晓燕 +3 位作者 李质馨 王正朝 于永生 窦肇华 《中国医学科学院学报》 CAS CSCD 北大核心 2012年第3期281-285,共5页
Polycomb group(PcG)蛋白是表观遗传调控因子中一个非常重要的家族,参与维持特定基因的沉默,在调控干细胞增殖与分化的过程中起着非常重要的作用。PcG蛋白可通过形成不同的蛋白复合物引起不同的染色质修饰来调控干细胞的生命活动,其复... Polycomb group(PcG)蛋白是表观遗传调控因子中一个非常重要的家族,参与维持特定基因的沉默,在调控干细胞增殖与分化的过程中起着非常重要的作用。PcG蛋白可通过形成不同的蛋白复合物引起不同的染色质修饰来调控干细胞的生命活动,其复合物主要包括两个重要的表观遗传调控因子:PRC1(polycomb repressive complex 1)和PRC2(polycomb repressive complex 2)。为了阐明PcG蛋白在干细胞增殖与分化中的调控作用,本文分别从PcG蛋白复合体的组成、在靶基因中的定位、募集和在干细胞发育中的调控等方面进行了综述,旨在为进一步研究干细胞的发育调控机制提供理论依据。 展开更多
关键词 POLYCOMB group蛋白 干细胞 基因沉默 表观遗传修饰
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福州旗山野生蕉(Musa spp.,AB Group)试管苗Mn-SOD基因克隆及生物信息学分析 被引量:1
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作者 张锐 赖钟雄 《热带作物学报》 CSCD 北大核心 2014年第11期2215-2222,共8页
以旗山野生蕉(Musa spp.,AB group)试管苗幼嫩叶片为材料,利用RT-PCR结合RACE技术克隆获得野生蕉试管苗Mn-SOD基因c DNA序列。结果表明:旗山野生蕉Mn-SOD的c DNA全长序列共831 bp,其中5′UTR为137 bp,3′UTR为151 bp,3′端含有17个poly... 以旗山野生蕉(Musa spp.,AB group)试管苗幼嫩叶片为材料,利用RT-PCR结合RACE技术克隆获得野生蕉试管苗Mn-SOD基因c DNA序列。结果表明:旗山野生蕉Mn-SOD的c DNA全长序列共831 bp,其中5′UTR为137 bp,3′UTR为151 bp,3′端含有17个poly(A)尾。开放阅读框(ORF)共有543个碱基组成,编码181个氨基酸。蛋白理化性质预测结果显示:Mn-SOD蛋白分子量为20 108.8 u,等电点7.92,属于碱性蛋白。 展开更多
关键词 旗山野生蕉(Musa spp. AB group) 试管苗 基因克隆 Mn—SOD基因 生物信息学分析
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福州宦溪野生蕉(Musa spp.,AB group)CHUP1基因克隆及其生物信息学分析 被引量:1
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作者 刘炜婳 赖钟雄 《热带作物学报》 CSCD 北大核心 2013年第5期875-883,共9页
CHUP1(chloroplast unusual positioning 1)参与了叶绿体移动信号转导过程,对植物避免光伤害及提高光合效率方面具有重要作用,并且与植物抗寒性有密切关系。本研究以福州宦溪野生蕉(Musa spp.AB group)叶片为材料,采用同源克隆的方法,... CHUP1(chloroplast unusual positioning 1)参与了叶绿体移动信号转导过程,对植物避免光伤害及提高光合效率方面具有重要作用,并且与植物抗寒性有密切关系。本研究以福州宦溪野生蕉(Musa spp.AB group)叶片为材料,采用同源克隆的方法,分离出CHUP1基因cDNA和DNA序列,GenBank登录号分别为JX123753、JX880084,命名为Mu-CHUP1。Mu-CHUP1 cDNA全长3 232 bp,ORF 2 931 bp,编码976个氨基酸。福州宦溪野生蕉Mu-CHUP1 cDNA序列与小果野蕉(M.acuminata,AA Group)全基因组测序中的CHUP1 cDNA序列的相似性为84.71%;福州宦溪野生蕉Mu-CHUP1 ORF的DNA序列含8个内含子、9个外显子,而小果野蕉全基因组测序中的CHUP1基因组DNA序列则有11个内含子、12个外显子,两者相差较大。生物信息学预测分析表明,Mu-CHUP1磷酸化位点多达62个,并且含有3个保守结构域,可能与其行使多样性的功能有关。 展开更多
关键词 福州宦溪野生蕉(Musa spp. AB group) CHUP1 基因克隆 内含子分析 生物信息学
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Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy 被引量:7
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作者 RN Zárate R F Arias +3 位作者 E Bandres E Cubedo R Malumbres J García-Foncillas 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第37期6032-6036,共5页
AIM: To evaluate the potential association of xeroderma pigmentosum group D (XPD) codon 751 variant with outcome after chemo-radiotherapy in patients with resected gastric cancer. METHODS: We used PCR-RFLP to evaluate... AIM: To evaluate the potential association of xeroderma pigmentosum group D (XPD) codon 751 variant with outcome after chemo-radiotherapy in patients with resected gastric cancer. METHODS: We used PCR-RFLP to evaluate the genetic XPD Lys751Gln polymorphisms in 44 patients with stage Ⅲ (48%) and Ⅳ (20%) gastric cancer treated with surgery following radiation therapy plus 5-fluorouracil/ leucovorin based chemotherapy. RESULTS: Statistical analysis showed that 75% (12 of 16) of relapse patients showed Lys/Lys genotype more frequently (P = 0.042). The Lys polymorphism was an independent predictor of high-risk relapse-free survival from Cox analysis (HR: 3.07, 95% CI: 1.07-8.78, P = 0.036) and Kaplan-Meir test (P = 0.027, log-rank test). CONCLUSION: XPD Lys751Gln polymorphism may be an important marker in the prediction of clinical outcome to chemo-radiotherapy in resected gastric cancer patients. 展开更多
关键词 Xeroderma pigmentosum group D gene POLYMORPHISM Gastric cancer RADIOTHERAPY
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An Improved Elastic Net for Cancer Classification and Gene Selection 被引量:7
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作者 LI Jun-Tao JIA Ying-Min 《自动化学报》 EI CSCD 北大核心 2010年第7期976-981,共6页
关键词 癌症 弹性网络 基因组 计算方法
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A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia 被引量:2
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作者 Shi-min WU Jin-zhi GAO +3 位作者 Bin HE Wen-jun LONG Xiao-ping LUO Ling CHEN 《Current Medical Science》 SCIE CAS 2020年第1期172-177,共6页
X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the n... X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms. 展开更多
关键词 nuclear receptor subfamily 0 group B member 1 gene hypogonadotropic hypogonadism X-linked adrenal hypoplasia congenita
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DNA repair gene XRCC1 polymorphisms and susceptibility to childhood acute lymphoblastic leukemia: a meta-analysis 被引量:4
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作者 Juan Du Cong Lu +2 位作者 Guohui Cui Yan Chen Jing He 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2013年第4期405-415,共11页
Objective: To estimate the relationship between genetic polymorphisms of X-ray repair cross- complementing group 1 (XRCC1) and the susceptibility to childhood acute lymphoblastic leukemia (ALL). Methods: Relevan... Objective: To estimate the relationship between genetic polymorphisms of X-ray repair cross- complementing group 1 (XRCC1) and the susceptibility to childhood acute lymphoblastic leukemia (ALL). Methods: Relevant case-control studies were enrolled in the meta-analysis. We applied Rev Man 4.2 software to pool raw data and test studies' heterogeneity and to calculate the incorporated odds ratio (OR) and 95% confidence interval (95% CI). Results: Our data showed that the OR for the Gln allele of the Arg399Gln polymorphism, compared with the Arg allele, was 1.35 (95% CI, 1.16-1.57; P〈0.0001) for childhood ALL patients. Similarly, the homozygous genotype Gln/Gln and heterozygous genotype Arg/Gln both significantly increased the risk of childhood ALL compared with the wild genotype Arg/Arg (OR =1.58; 95% CI, 1.13-2.21; P=0.008; OR =1.51; 95% CI, 1.21-1.87; P=0.0002). The dominant model of Arg399Gln was associated with childhood ALL risk (OR =1.54; 95% CI, 1.25-1.89; P〈0.0001). The ethnic subgroup analysis demonstrated that the Gln allele in all five ethnic groups was prone to be a risk factor for childhood ALL just with different degrees of correlation while Arg194Trp SNP showed a protective or risk factor or irrelevant thing in different races. Conclusions: XRCC1 399 polymorphism may increase the risk of childhood ALL. Different ethnic groups with some gene polymorphism have different disease risks. 展开更多
关键词 X-ray repair cross-complementing group 1 (XRCC1) gene polymorphism CHILDHOOD acute lymphoblastic leukemia (ALL)
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ABO血型变异的分子基础研究 被引量:1
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作者 雷航 王学锋 +2 位作者 程晓文 张慧 蔡晓红 《中国输血杂志》 CAS 2024年第4期385-391,共7页
目的 对临床ABO血型变异标本进行ABO亚型、类孟买血型与基因型关联性研究,以探讨这2种血型产生的可能分子背景,为ABO血型的准确鉴定与预判提供精确的基因检测靶点和理论依据。方法 对2022年2—12月瑞金医院2.42万名血型鉴定患者,以及期... 目的 对临床ABO血型变异标本进行ABO亚型、类孟买血型与基因型关联性研究,以探讨这2种血型产生的可能分子背景,为ABO血型的准确鉴定与预判提供精确的基因检测靶点和理论依据。方法 对2022年2—12月瑞金医院2.42万名血型鉴定患者,以及期间来自外院送检10例ABO疑难标本(疑似ABO亚型3例,疑似类孟买血型7例)进行血清学分析,对血清学鉴定为ABO亚型、类孟买血型的行DNA直接测序或克隆后测序分析ABO、FUT1、FUT2基因序列。结果 在共计2.42万血型鉴定患者中检出7例ABO亚型;外院送检的10例疑难标本检出2例ABO亚型、1例正常A型、7例类孟买血型。我们共鉴定出:1)9例ABO亚型,表型及其对应基因型分别为:1例A_(el)(AEL.02/O.01.02)、1例A_(el)B(AEL.05/B.01)、3例B_(3)(2例B3.03/O.01.01、1例B3.03/O.01.02)、1例B(A)(BA.02/O.01.01)、1例AB_(weak)(A1.02/BW.07)、1例B_(weak)(BW.31/O.01.02)、1例A_(2)B_(weak)(A2.05/BW.31);2)7例类孟买血型,表型及其对应基因型分别为:1例AB_(m)^(h)(FUT1^(*)01N.13/FUT1^(*)01N.13)、4例A_(m)^(h)(3例FUT1^(*)01N.06/FUT1^(*)01N.13、1例FUT1^(*)01N.13/FUT1^(*)01N.13)、2例B_(m)^(h)(FUT1^(*)01N.06/FUT1^(*)01N.06、FUT1^(*)01N.06/FUT1^(*)01N.13),7例类孟买的FUT2基因型均为FUT2^(*)01/FUT2^(*)01。结论 ABO血型变异标本需联合血清学与分子生物学方法进行鉴定,方能提高对血型变异标本的鉴定准确率,从而为临床安全输血、器官移植、胎母免疫性溶血病的预测与防治提供参考。 展开更多
关键词 ABO亚型 类孟买血型 基因突变 分子机制
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Correlation between X-ray cross-complementing group 1 polymorphisms and the onset risk of glioma A meta-analysis 被引量:1
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作者 Xinquan Gu Hongyan Sun +4 位作者 Liping Chang Ran Sun Hongfeng Yang Xuewen Zhang Xianling Cong 《Neural Regeneration Research》 SCIE CAS CSCD 2013年第26期2468-2477,共10页
OBJECTIVE: To evaluate the association of X-ray cross-complementing group 1 (XRCC1) Arg399GIn, Arg194Trp and Arg280His polymorphisms with the risk of glioma. DATA SOURCES: A systematic literature search of papers ... OBJECTIVE: To evaluate the association of X-ray cross-complementing group 1 (XRCC1) Arg399GIn, Arg194Trp and Arg280His polymorphisms with the risk of glioma. DATA SOURCES: A systematic literature search of papers published from January 2000 to August 2012 in PubMed, Embase, China National Knowledge Infrastructure database, and Wanfang da- tabase was performed. The key words used were "glioma", "polymorphism", and "XRCC1 or X-ray repair cross-complementing group 1". References cited in the retrieved articles were screened manually to identify additional eligible studies. STUDY SELECTION: Studies were identified according to the following inclusion criteria: case-control design was based on unrelated individuals; and genotype frequency was available to estimate an odds ratio (OR) and 95% confidence interval (CI). Meta-analysis was performed for the selected studies after strict screening. Dominant and recessive genetic models were used and the relationship between homozygous mutant genotype frequencies and mutant gene frequency and glioma incidence was investigated. We chose the fixed or random effect model according to the heterogeneity to calculate OR and 95%CI, and sensitivity analyses were conducted. Publication bias was examined using the inverted funnel plot and the Egger's test using Stata 12.0 software. MAIN OUTCOME MEASURES: Association of XRCC1 Arg399GIn, Arg194Trp, and Arg280His polymorphisms with the risk of glioma, and subgroup analyses were performed according to differ- ent ethnicities of the subjects.RESULTS: Twelve articles were included in the meta-analysis. Eleven of the articles were concerned with the Arg399GIn polymorphism and glioma onset risk. Significantly increased glioma risks were found only in the dominant model (Gin/Gin + GIn/Arg versus Arg/Arg: OR = 1.26, 95%CI= 1.03-1.54, P = 0.02). In the subgroup analysis by ethnicity, significantly increased risk was found in Asian subjects in the recessive (OR = 1.46, 95%CI= 1.04-2.45, P = 0.03) and dominant models (OR = 1.40, 95%CI= 1.10-1.78, P = 0.007), and homozygote contrast (OR = 1.69, 95%CI= 1.17-2.45, P = 0.005), but not in Caucasian sub- jects. For association of the Arg194Trp (eight studies) and Arg280His (four studies) polymorphisms with glioma risk, the meta-analysis did not reveal a significant effect in the allele contrast, the recessive genetic model, the dominant genetic model, or homozygote contrast. CONCLUSION: The XRCC1 Arg399GIn polymorphism may be a biomarker of glioma susceptibility, espe- cially in Asian populations. The Arg194Trp and Arg280His polymorphisms were not associated with overall glioma risk. 展开更多
关键词 neural regeneration META-ANALYSIS GLIOMA X-ray cross-complementing group 1 gene polymorphism meta-analysis susceptibility onset risk gene mutation grants-supported paper neuroregeneration
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B亚型新等位基因803delC的分子生物学研究 被引量:2
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作者 王立萍 于晓梅 +4 位作者 李书杰 李希 冀宝军 李新菊 孙福廷 《中国输血杂志》 CAS 2024年第3期344-347,共4页
目的分析研究1例新的B亚型等位基因血清学特点和分子生物学机制。方法应用血清学方法检测患者ABO血型。应用序列特异性引物-聚合酶链反应(PCR-SSP)检测ABO血型基因。应用Sanger基因序列分析检测ABO基因1~7外显子编码区域,确定基因突变... 目的分析研究1例新的B亚型等位基因血清学特点和分子生物学机制。方法应用血清学方法检测患者ABO血型。应用序列特异性引物-聚合酶链反应(PCR-SSP)检测ABO血型基因。应用Sanger基因序列分析检测ABO基因1~7外显子编码区域,确定基因突变位点。结果血清学鉴定患者正定型为O型,反定型为B型。PCR-SSP基因分型结果为A/O型,存在A基因,与血清学结果不符。进一步Sanger双链测序结果显示该标本在ABO^(*)B.01/ABO^(*)O.01.01的基础上,第7外显子803位置缺失C碱基。该突变最终导致多肽链上发生p.Ala268Gly和p.Phe269Ser的氨基酸替换,并且从269位置开始产生新的开放阅读框,新的开放阅读框第20号氨基酸为终止密码子,导致B基因表达终止。进一步ABO基因克隆测序证明该突变点位于ABO*B.01基因上,该突变已提交NCBI数据库,收录编号为OR343908。结论在中国人群中发现1种新的导致B变异型的ABO等位基因,基因检测方法可辅助鉴定血清学正、反定型不符的疑难血型。 展开更多
关键词 B亚型 新等位基因 基因序列分析 血清学 疑难血型
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新疆地区急性淋巴细胞白血病患儿核苷酸焦磷酸酶15基因多态性分析
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作者 冯杰 王婷婷 +2 位作者 张惠兰 姚彤 李红健 《儿科药学杂志》 CAS 2024年第7期1-4,共4页
目的:分析核苷酸焦磷酸酶15(NUDT15)基因多态性在新疆维吾尔族、汉族、哈萨克族及蒙古族急性淋巴细胞白血病(ALL)患儿中的分布情况。方法:筛选患有ALL的新疆地区多民族患儿入组,收集入组患儿临床基线资料。采集患儿外周静脉血并提取白细... 目的:分析核苷酸焦磷酸酶15(NUDT15)基因多态性在新疆维吾尔族、汉族、哈萨克族及蒙古族急性淋巴细胞白血病(ALL)患儿中的分布情况。方法:筛选患有ALL的新疆地区多民族患儿入组,收集入组患儿临床基线资料。采集患儿外周静脉血并提取白细胞,采用荧光染色原位杂交法测定NUDT15基因型。采用χ^(2)分析比较我国新疆地区不同民族ALL患儿NUDT15基因多态性差异。结果:共纳入207例患儿,其中46.9%为男性,年龄1~17(7.0±4.0)岁,包括维吾尔族108例,汉族44例,哈萨克族37例,蒙古族18例。中国新疆哈萨克族与汉族患儿NUDT15 c.415C>T TT基因型频率显著高于维吾尔族患儿(P=0.020)。哈萨克族与汉族患儿T等位基因型频率显著高于维吾尔族与蒙古族患儿(P=0.008)。结论:ALL患儿NUDT15 c.415C>T基因多态性分布在新疆地区不同民族间存在显著差异。 展开更多
关键词 NUDT15 民族 基因多态性 急性淋巴细胞白血病 新疆
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潍坊地区患者ABO血型鉴定困难原因分析
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作者 王立萍 李书杰 +4 位作者 吴晓春 刘凯 李新菊 冀宝军 孙福廷 《医学检验与临床》 2024年第6期11-15,54,共6页
目的:探讨分析潍坊地区患者ABO血型鉴定困难原因,解决疑难输血问题。方法:应用全自动血型分析仪对2020年12月-2023年10月潍坊地区239388例患者血型标本进行ABO血型初检,正反定型不符的标本加做试管法+镜检、不规则抗体筛查等实验,仍无... 目的:探讨分析潍坊地区患者ABO血型鉴定困难原因,解决疑难输血问题。方法:应用全自动血型分析仪对2020年12月-2023年10月潍坊地区239388例患者血型标本进行ABO血型初检,正反定型不符的标本加做试管法+镜检、不规则抗体筛查等实验,仍无法确定血型的,应用PCR-SSP法检测ABO血型基因,SSP荧光PCR染料法鉴定血型亚型,必要时进行Sanger基因序列分析。结果:239388份标本检出正反不符标本248份,研究分析结果为:①ABO亚型所致95例(4.0/万),其中B基因发生突变频率(65/95)明显高于A基因(28/95);②抗原减弱所致94例(3.9/万),其中B抗原表达减弱(62/94)比A抗原减弱(29/94)更常见;③不规则抗体阳性所致34例(1.4/万),其中抗M抗体(25/34)检出率最高;④反定型抗体减弱/缺失所致25例(1.0/万),其中抗B抗体减弱或缺失(22/25)最常见。结论:血清学与分子生物学结合可以准确鉴定患者血型,有效解决患者血型鉴定困难导致的疑难输血问题。 展开更多
关键词 潍坊地区 ABO血型 基因序列分析
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铁蓄积大鼠食管黏膜组织差异表达基因的筛选及生物学功能分析
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作者 刘国红 任雨轩 +2 位作者 邵谦毅 梁硕 王丽萍 《山东医药》 CAS 2024年第12期37-41,共5页
目的筛选铁蓄积大鼠食管黏膜组织差异表达基因,并分析差异表达基因的生物学功能。方法12只6周龄雄性SD大鼠随机分为铁蓄积组和对照组,每组6只,铁蓄积组隔天腹腔注射蔗糖铁溶液制备铁蓄积模型,对照组注射等量生理盐水,14周后取血和食管... 目的筛选铁蓄积大鼠食管黏膜组织差异表达基因,并分析差异表达基因的生物学功能。方法12只6周龄雄性SD大鼠随机分为铁蓄积组和对照组,每组6只,铁蓄积组隔天腹腔注射蔗糖铁溶液制备铁蓄积模型,对照组注射等量生理盐水,14周后取血和食管、肝等组织,应用血清学、组织学方法鉴定铁蓄积造模是否成功;剥离两组食管黏膜组织,采用转录组测序技术筛选差异表达基因,并对差异表达基因进行基因本体(GO)功能富集分析及真核生物蛋白相邻类的聚簇(KOG)分类富集分析。结果筛选出9个差异表达基因,5个上调基因包括昼夜相关转录抑制因子(Ciart)、液泡蛋白质分选因子25(Vps25)、甲状腺激素应答蛋白(Thrsp)、UDP-N-乙酰氨基葡萄糖焦磷酸化酶1(Uap1)、血清解整合素—金属蛋白酶33(Adam33),4个下调基因包括过氧化物酶基因(Pxdn)、硫酸乙酰肝素蛋白多糖基因2(Hspg2)、中心体相关蛋白2(Cep2)、G蛋白信号转导调节因子4(Rgs4)。GO功能富集分析显示,上调基因的生物过程(BP)集中在节律过程、代谢过程、行为、生物过程调节、特定位置运动、生物过程的负调控、生物调节、定位、细胞过程、多细胞生物过程;细胞组成(CC)主要集中在膜封闭腔、细胞器部分、细胞器、膜、细胞外区域部分、膜部分、细胞部分、细胞;分子功能(MF)主要集中在结合、结构分子活性、催化活性。下调基因的BP主要集中在解毒、刺激反应、细胞组成或生物形成、信号、生物过程的负调控、生物过程的正调节、发育过程、细胞过程、生物过程调节、生物调节、代谢过程;CC主要集中在细胞外基质、细胞外基质组成、细胞外区域部分、细胞外区域、细胞器、膜、细胞部分、细胞;MF主要集中在酶调节活性、抗氧化活性、分子功能调节剂、受体调节活性、结构分子活性、结合、催化活性。KOG分类富集分析显示,表达上调的基因中有3个获得功能注释,Uap1被注释到细胞壁/膜/包膜生物形成,Adam33被注释到翻译后修饰,蛋白质折叠和伴侣蛋白,Vps25被注释到功能预测。表达下调的基因中有2个获得功能注释,Rgs4被注释到信号转导机制,Hspg2被注释到翻译后修饰,蛋白质折叠和伴侣蛋白。结论铁蓄积大鼠食管黏膜组织中共筛选出9个差异表达基因,包括5个表达上调基因和4个表达下调基因。GO功能富集分析显示差异表达基因主要参与的BP包括节律过程、代谢过程、细胞过程、生物过程调节等,主要参与的CC包括细胞器、膜、细胞外区域部分等,主要参与的MF包括结合、催化活性、结构分子活性。有5个差异基因获得KOG功能注释,包括翻译后修饰、蛋白质折叠和伴侣蛋白、信号转导等,主要参与细胞周期、细胞代谢、细胞增殖及氧化应激等通路。 展开更多
关键词 铁蓄积 差异表达基因 基因本体功能富集 真核生物蛋白相邻类的聚簇分类富集
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ABO血型基因外显子1上新变异的鉴定
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作者 薛阳 李抄 +5 位作者 辛文龙 曾星 马涛 陈芳芳 曹晨 高宏军 《中国实验血液学杂志》 CAS CSCD 北大核心 2024年第4期1212-1216,共5页
目的:应用血清学和分子生物学方法鉴定1例ABO正反定型不一致患者的血型,并探讨其遗传学特点。方法:采用试管法鉴定该患者的ABO表型,荧光PCR法测定患者及其父母的ABO血型基因型,并对ABO基因7个外显子进行直接测序分析。结果:本例患者血... 目的:应用血清学和分子生物学方法鉴定1例ABO正反定型不一致患者的血型,并探讨其遗传学特点。方法:采用试管法鉴定该患者的ABO表型,荧光PCR法测定患者及其父母的ABO血型基因型,并对ABO基因7个外显子进行直接测序分析。结果:本例患者血清学初步鉴定为Bel亚型;基因分型检测患者及其父亲的基因型为B/O1,其母亲的基因型为O1/O1;测序发现在患者及其父亲ABO基因外显子1上有新的c.16_17delins TGTTGCA杂合变异。结论:外显子1上新的变异导致该患者ABO血型出现Bel亚型,并具有遗传性。 展开更多
关键词 ABO血型 Bel亚型 分子生物学 基因 外显子
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ERCC1、K-ras、TP-73在替雷利珠单抗联合TP化疗方案治疗非小细胞肺癌中的评估价值
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作者 王亚飞 张振军 +1 位作者 宋长亮 杨琼 《标记免疫分析与临床》 CAS 2024年第3期496-501,共6页
目的研究探讨核苷酸切除修复交叉互补基因1(ERCC1)、Kirsten-Rous肉瘤病毒蛋白(K-ras)、肿瘤蛋白P73(TP73)在替雷利珠单抗结合紫杉醇+顺铂(TP)化疗方案治疗NSCLC中的评估价值。方法选取2020年1月至2021年12月本院收治的126例NSCLC肺癌... 目的研究探讨核苷酸切除修复交叉互补基因1(ERCC1)、Kirsten-Rous肉瘤病毒蛋白(K-ras)、肿瘤蛋白P73(TP73)在替雷利珠单抗结合紫杉醇+顺铂(TP)化疗方案治疗NSCLC中的评估价值。方法选取2020年1月至2021年12月本院收治的126例NSCLC肺癌患者为研究对象,按随机抽签法分为对照组、观察组,各63例。对照组以TP化疗方案治疗,观察组增加替雷利珠单抗治疗。评估组间临床疗效、肿瘤标记蛋白、免疫指标、生存周期、不良反应。结果观察组患者的客观缓解率为69.84%(44/63)高于对照组患者为52.38%(33/63),观察组疾病控制率为82.54%(52/63),高于对照组患者为66.67%(42/63)(P<0.05)。化疗1周期、化疗3周期、化疗6周期时,观察组ERCC1、K-ras、TP-73水平均低于对照组(P<0.05)。治疗后观察组免疫功能补体C3、补体C4、CD40细胞低于对照组,NK细胞高于对照组(P<0.05)。观察组患者的TTP、PFS、总生存期均高于对照组(P<0.05)。观察组不良反应发生率为19.05%(12/63),对照组为12.70%(8/63),组间比较差异无统计学意义(P>0.05)。结论替雷利珠单抗联合TP化疗方案治疗肺癌有良好的治疗效果,能够改善患者免疫功能,延长患者生存周期,治疗安全性较好,且ERCC1、K-ras、TP-73水平变化可反映替雷利珠单抗联合TP化疗方案在肺癌治疗中的效果,在综合疗效评估中有较高的应用价值。 展开更多
关键词 替雷利珠单抗 紫杉醇 顺铂 核苷酸切除修复交叉互补基因1 基因Kirsten-Rous肉瘤病毒蛋白 肿瘤蛋白P73 非小细胞肺癌
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