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Angiotensin-converting Enzyme Gene Insertion/Deletion Polymorphism in Children with Henoch-Schonlein Purpua Nephritis 被引量:17
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作者 周建华 田雪飞 徐钦儒 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2004年第2期158-161,共4页
This study investigated the relationship between angiotensin-converting enzyme (ACE) gene insertion/deletion polymorphism and the occurrence, severity, prognosis of HSPN. The polymorphism of ACE gene in 103 HSPN case... This study investigated the relationship between angiotensin-converting enzyme (ACE) gene insertion/deletion polymorphism and the occurrence, severity, prognosis of HSPN. The polymorphism of ACE gene in 103 HSPN cases and 100 healthy children was studied by using the polymerase chain reactions (PCR). Its relation to the clinical manifestation, pathological classification and prognosis of HSPN was analyzed accordingly. The results showed that: (1) there was a significantly higher frequency for DD genotype in HSPN children (P<0.01); (2) DD genotype was more frequently seen in HSPN children with gross hematuria and massive proteinuria (P<0.05), while DI genotype was more common in HSPN children group with renal insufficiency (P<0.05); (3) although mesangial proliferative lesion was most frequently observed in 21 biopsied HSPN children, and DD genotype frequency was still higher in children with severe pathology (Class Ⅲ Ⅳ); (4)II genotype was significantly frequent in HSPN children with complete remission in the follow-up of 32 HSPN children. It was concluded that the deletion allele of ACE gene might play a role, at least to some extent, in the occurrence, deterioration and progression in juvenile HSPN. 展开更多
关键词 angiotensin-converting enzyme gene insertion/deletion polymorphism Henoch-Schonlein purura nephritis children
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Association study between the angiotensin converting enzyme gene insertion/deletion polymorphism and Qinghai Han Chinese with congenital heart disease 被引量:1
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作者 Jing ZHAO Lin LU +2 位作者 Yong-nian LIU Zhan-hai SU Ying-zhong YANG 《中国应用生理学杂志》 CAS CSCD 2016年第6期499-503,共5页
Objective: The aim of this work is to determine whether the angiotensin converting enzyme(ACE) I/D(insertion/deletion) polymorphism is associated with the susceptibility to congenital heart disease(CHD) in the Qinghai... Objective: The aim of this work is to determine whether the angiotensin converting enzyme(ACE) I/D(insertion/deletion) polymorphism is associated with the susceptibility to congenital heart disease(CHD) in the Qinghai Han Chinese. Methods: This study enrolled 59 CHD patients and 193 CHD controls from Qinghai Cardiovascular Diseases Vocational Hospital. Blood samples were collected from each of the patient and control groups. The ACE-I/D polymorphism was detected by polymerase chain reaction(PCR). Results: The genotype frequencies of ACE-I/D for II, ID, DD in patients and controls were 0.475, 0.441, 0.085 and 0.430, 0.446, 0.124, respectively. The allelic frequencies of I and D were 0.650, 0.350 and 0.695, 0.305, respectively. The OR of ID, DD and D alleles relative to II for CHD was 1.116(0.604-2.060), 1.619(0.564-4.648) and 1.211(0.777-1.889). There was no significant difference of the genotypic and the allelic frequencies in ACE-I/D polymorphism between the patient and control groups. Conclusion: There is no relation between ACE-I/D polymorphism and CHD in current Qinghai Han Chinese. 展开更多
关键词 血管紧张素转换酶基因 基因多态性 先天性心脏病 插入/缺失 青海 汉族 等位基因频率 基因型频率
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微课-INSERT AND DELETE的使用的设计与制作
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作者 董雪 王一雄 +1 位作者 王克 王岩 《黑龙江科技信息》 2016年第14期173-173,共1页
随着现代信息科学技术的不断发展,一种新型的教学模式——"微课"开始走进学生的生活,"微课"以其潜在的优势在学生的学习生活中发挥了积极作用。与此同时在数据库中对数据库的录入和删除尤为重要,因此我们结合微课... 随着现代信息科学技术的不断发展,一种新型的教学模式——"微课"开始走进学生的生活,"微课"以其潜在的优势在学生的学习生活中发挥了积极作用。与此同时在数据库中对数据库的录入和删除尤为重要,因此我们结合微课的使用和SQL中的INSERT INTO...VALUES、delete的作用,制作和设计了该微课,本微课主要针对INSERT INTO...VALUES和delete的定义和特点以及微课设计及制作进行了介绍,生动形象的展现了数据的录入和删除的作用。 展开更多
关键词 微课 insert INTO...VALUES delete
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Two new SINE insertion polymorphisms in pig Vertnin(VRTN)gene revealed by comparative genomic alignment 被引量:1
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作者 ZHENG Yao CHEN Cai +6 位作者 CHEN Wei WANG Xiao-yan WANG Wei GAO Bo Klaus WIMMERS MAO Jiu-de SONG Cheng-yi 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2020年第10期2514-2522,共9页
Despite one SINE retrotransposon insertion polymorphism(sRTIP)in the vertebrae development-associated(VRTN)gene was identified in pigs,the structural variations(SVs)in VRTN gene and its proximal flank regions were lar... Despite one SINE retrotransposon insertion polymorphism(sRTIP)in the vertebrae development-associated(VRTN)gene was identified in pigs,the structural variations(SVs)in VRTN gene and its proximal flank regions were largely unknown.VRTN genic and flanking sequences from 14 breeds were assembled or downloaded from whole genome shotgun contings(WGS)database,and aligned to identify the SVs with Clustalx,and retrotransposons in VRTN gene were annotated by RepeatMasker,the splicing patterns of VRTN gene were predicted by Genescan,and large SVs were evaluated by PCR.A total of 12 small SVs and three large SVs in intron of VRTN,derived from SINE insertion polymorphisms.were identifed,and two of them(VRTN-sRTIP2 and VRTN-sRTIP3)were not reported before.These VRTN-sRTIPs may affect the splicing patterns of VRTN.They displayed polymorphisms in most detected eight breeds.VRTN-sRTIP2 and VRTN-sRTIP3 showed Hardy-Weinberg equilibrium distributions in most populations except the Chinese local Erhualian pigs,while VRTN-sRTIP1 showed genetic equilbrium in Erhualian pigs.Three VRTN-sRTIPs were identified,and displayed polymorphisms in pigs,and two of them were not reported before.These SVs provide a useful molecular markers for genetic analysis in pigs,and offer new information to facilitate the understanding the SVs of VRTN gene and their putative roles in the variation of vertebral number. 展开更多
关键词 VRTN gene structural variations SINE insertion polymorphism PIG
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Glutathione S-transferase M1 polymorphism and esophagealcancer risk:An updated meta-analysis based on 37 studies 被引量:4
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作者 Quan-Jun Lu Ya-Cong Bo +7 位作者 Yan Zhao Er-Jiang Zhao Wolde Bekalo Sapa Ming-Jie Yao Dan-Dan Duan Yi-Wei Zhu Wei-Quan Lu Ling Yuan 《World Journal of Gastroenterology》 SCIE CAS 2016年第5期1911-1918,共8页
AIM: To evaluate the relationship between glutathione S-transferase M1(GSTM1) polymorphism and susceptibility to esophageal cancer(EC).METHODS: A comprehensive search of the United States National Library of Medicine ... AIM: To evaluate the relationship between glutathione S-transferase M1(GSTM1) polymorphism and susceptibility to esophageal cancer(EC).METHODS: A comprehensive search of the United States National Library of Medicine Pub Med database and the Elsevier, Springer, and China National Knowledge Infrastructure databases for all relevant studies was conducted using combinations of the following terms: "glutathione S-transferase M1", "GSTM1", "polymorphism", and "EC"(until November 1, 2014). The statistical analysis was performed using the SAS software(v.9.1.3; SAS Institute, Cary, NC, United States) and the Review Manager software(v.5.0; Oxford, England); crude odds ratios(ORs) with 95% confidence intervals(CIs) were used to assess the association between the GSTM1 null genotype and the risk of EC.RESULTS: A total of 37 studies involving 2236 EC cases and 3243 controls were included in this metaanalysis. We observed that the GSTM1 null genotype was a significant risk factor for EC in most populations(OR = 1.33, 95%CI: 1.12-1.57, P_(heterogeneity) < 0.000001, and I2 = 77.0%), particularly in the Asian population(OR = 1.53, 95%CI: 1.26-1.86, P_(heterogeneity)< 0.000001, and I2 = 77.0%), but not in the Caucasian population(OR = 1.02, 95%CI: 0.87-1.19, P_(heterogeneity) = 0.97, and I2 = 0%).CONCLUSION: The GSTM1 null polymorphism may be associated with an increased risk for EC in Asian but not Caucasian populations. 展开更多
关键词 META-ANALYSIS GLUTATHIONE S-transferaseM1 polymorphism ESOPHAGEAL cancer deletIONS
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A polymorphism within ErbB4 is associated with risk for hepatocellular carcinoma in Chinese population 被引量:1
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作者 Qiang Yu,Chun-Xiao Zhou,Nan-Sheng Chen,Shu-Dan Zheng,Li-Ming Shen,Jin-Kun Zhang,Department of Gastroenterology,Suzhou Municipal Hospital,Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou 215002,Jiangsu Province,China 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第4期383-387,共5页
AIM:To investigate the association between hepatocel-lular carcinoma (HCC) susceptibility and a 12-bp inser-tion/deletion polymorphism (rs6147150) in the 3'UTR of ErbB4.METHODS:Using a case-control design,the rs61... AIM:To investigate the association between hepatocel-lular carcinoma (HCC) susceptibility and a 12-bp inser-tion/deletion polymorphism (rs6147150) in the 3'UTR of ErbB4.METHODS:Using a case-control design,the rs6147150 genotypes in 270 patients with HCC and 270 healthy controls were determined by direct polymerase chain reaction and polyacrylamide gel electrophoresis.Logistic regression was used to analyze the association between the polymorphism and cancer risk.RESULTS:Computational modeling suggested that rs6147150 was located in the seed region of hsa-let-7c,a potential target sequence in ErbB4 3'UTR.Logistic re-gression analysis showed that,compared with individu-als homozygous for wild-type,heterozygotes [adjusted odds ratio (OR)=1.48,95% confidence interval (CI)= 1.03-2.17,P=0.034] and individuals homozygous for 12-bp del/del (OR=2.50,95% CI=1.37-4.56,P=0.001) were at significantly higher risk of HCC.Car-riers of the "del" allele of rs6147150 had a 1.59-fold increased risk for HCC (95% CI=1.22-2.07,P=0.003).CONCLUSION:rs6147150 may be associated with HCC risk,in part through let-7c-mediated regulation,and may be involved in the pathogenesis of HCC in Chi-nese populations. 展开更多
关键词 原发性肝癌 中国人口 多态性 Logistic回归分析 风险 聚丙烯酰胺凝胶电泳 聚合酶链反应 DEL
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Correlation between the Insertion/Deletion Mutations of Prion Protein Gene and BSE Susceptibility and Milk Performance in Dairy Cows 被引量:1
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作者 Shen-rong Hu Yong-tao Huai +3 位作者 Chuan-ying Pan Chu-zhao Lei Hong Chen Xian-yong Lan 《国际感染病学(电子版)》 CAS 2013年第4期153-162,共10页
Objective To investigate the 23 bp and 12 bp insertion/deletion(indel)mutations within the bovine prion protein(PRNP)gene in Chinese dairy cows,and to detect the associations of two indel mutations with BSE susceptibi... Objective To investigate the 23 bp and 12 bp insertion/deletion(indel)mutations within the bovine prion protein(PRNP)gene in Chinese dairy cows,and to detect the associations of two indel mutations with BSE susceptibility and milk performance.Methods Based on bovine PRNP gene sequence,two pairs of primers for testing the 23 bp and 12 bp indel mutations were designed.The PCR amplification and agarose electrophoresis were carried out to distinguish the different genotypes within the mutations.Moreover,based on previous data from other cattle breeds and present genotypic and allelic frequencies of two indels mutations in this study,the corrections between the two indel mutations and BSE susceptibility were tested,as well as the relationships between the mutations and milk performance traits were analyzed in this study based on the statistical analyses.Results In the analyzed Chinese Holstein population,the frequencies of two"del"alleles in 23 bp and 12 bp indel muations were more frequent.The frequency of haplotype of 23del-12del was higher than those of 23del-12ins and 23ins-12del.From the estimated r2and D’values,two indel polymorphisms were linked strongly in the Holstein population(D’=57.5%,r2=0.257).Compared with the BSE-affected cattle populations from the reported data,the significant differences of genotypic and allelic frequencies were found among present Holstein and some BSE-affected populations(P<0.05 or P<0.01).Similarly,there were significant frequency distribution differences of genotypes and alleles among Chinese Holstein and several previous reported healthy dairy cattle(P<0.05 or P<0.01).Moreover,association of genotype and combined genotypes of two indel polymorphisms with milk performance and resistant mastitis traits were analyzed in Holstein population,but no significant differences were found(P>0.05).Conclusions These observations revealed that the influence of two indel mutations within the bovine PRNP gene on BSE depended on the breed and they did not affect the milk production traits,which layed the foundation for future selection of resistant animals,and for improving health conditions for dairy breeding against BSE in China. 展开更多
关键词 Dairy cows Prion protein(PRNP) gene Bovine spongiform encephalopathy(BSE) insertion/deletion(indel) mutation Association Milk performance
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Association of NFkB1 Gene Polymorphism with Inflammatory Markers in Patients of Type 2 Diabetes Mellitus with or without Renal Involvement in Eastern India
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作者 Sonalika Behera Andrew Abel Lamare +2 位作者 Roma Rattan Bijan Patnaik Sidhartha Das 《Journal of Diabetes Mellitus》 2020年第3期169-181,共13页
<strong>Aims: </strong>To evaluate the association of Nuclear factor kappa B1(NFkB1) gene polymorphism with inflammatory markers Urinary Monocyte Chemoattractant Protein 1 (UMCP1) and Tumor Necrosis Factor... <strong>Aims: </strong>To evaluate the association of Nuclear factor kappa B1(NFkB1) gene polymorphism with inflammatory markers Urinary Monocyte Chemoattractant Protein 1 (UMCP1) and Tumor Necrosis Factor alfa (TNF alfa) in Patients of diabetes mellitus with or without renal involvement in Eastern India. <strong>Material and Methods: </strong>Consecutive Patients of Type 2 Diabetes Mellitus (DM) with or without microalbuminuria attending SCB MEDICAL COLLEGE and HOSPITAL Medical OPDs in between September 2018 to September 2019 were recruited in this study. Patients were subjected to blood and urine investigations. DNA extraction and Restriction fragment Length Polymorphism (RFLP) was done in Department of Biochemistry. Controls were unrelated healthy attendants with no history of Diabetes Mellitus, HTN, Chronic Kidney Disease (CKD). <strong>Results:</strong> Mean Systolic BP, Fasting Blood Glucose, Post Prandial Blood Glucose, HBA1c, Total Cholesterol were significantly higher in diabetes mellitus and diabetic nephropathy groups than control group. Estimated Glomerular Filtration Rate was significantly lower in diabetic nephropathy (p value < 0.001). UMCP1, Urinary Albumin Creatinine Ratio, TNF alfa were higher in diabetes mellitus and nephropathy with p value (<0.001, 0.006 < 0.001) respectively. In between DM and Diabetic Nephropathy groups nfkb1 gene expression, umcp1 and tnf alfa levels were significantly increased in Diabetic nephropathy with p value 0.019, <0.01, 0.001 respectively. Insertion/insertion NFkB1 gene polymorphisms were more in diabetic nephropathy group and were positively correlated with inflammatory markers UMCP1 (r = 0.517, p < 0.01) and TNF alfa (r = 0.172, p = 0.19). <strong>Conclusion:</strong> insertion/insertion NFkB1 gene polymorphism increases the risk of nephropathy by 2.52 times (OR = 2.52, 95% CI: 0.04 - 0.63, p value = 0.019) in diabetes patients in eastern India. 展开更多
关键词 DN: Diabetic Nephropathy UACR: Urinary Albumin Creatinine Ratio UMCP1: Urinary Monocyte Chemoattractant Protein 1 TNF Alfa: Tumor Necrosis Factor Alfa NFkB1: Nuclear Factor Kappa B Ins/Ins polymorphism: insertion/insertion polymorphism Del/Del polymorphism: deletion/deletion polymorphism Ins/Del polymorphism: insertion/deletion polymorphism
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Study of Angiotensin Converting Enzyme Gene Polymorphism in Egyptian Type 2 Diabetes Mellitus with Diabetic Kidney Disease
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作者 Rizk A. El-baz Alaa M. Wafa +2 位作者 El-Shaimaa Marrawan Ahmed Ragab A. El-Tawab Zeinab Ibraheam Aly 《International Journal of Clinical Medicine》 2018年第8期629-643,共15页
Objective: Diabetic kidney disease DKD (Diabetic nephropathy DN) is considered one of the chronic micro vascular complications of diabetes mellitus and considered the commonest cause leading to chronic renal failure a... Objective: Diabetic kidney disease DKD (Diabetic nephropathy DN) is considered one of the chronic micro vascular complications of diabetes mellitus and considered the commonest cause leading to chronic renal failure and chronic renal dialysis. Genetic susceptibility has been implicated in DKD. The angiotensin converting enzyme (ACE) is one of the key roles in the renin angiotensin system cascade by converting angiotensin I to angiotensin II which plays a key role in regulation of blood pressure as well as electrolytes and fluid balance. This study addressed the association of (ACE) gene polymorphisms with DN in Egyptian (T2DM) patients. Methods: Our research comprised of 75 cases of T2DM with diabetic kidney disease, 100 cases of T2DM without DKD and 94 healthy volunteers. Different genotypes of ACE gene were determined by SSP-PCR analysis. Results: Gene polymorphism of ACE (DD, ID, II) in diabetic patient with DKD is 44%, 52%, 4% respectively and for T2DM individuals without DKD is 23%, 72%, 5% respectively. (DD) had significant higher frequencies in T2DM patients with DKD compared to those without DKD (p < 0.005) and (ID) had significant higher frequencies in T2DM without DKD (p < 0.0001). These results indicated that there is an association between ACE gene polymorphisms and susceptibility of diabetic patients to be affected by diabetic kidney disease. Conclusion: From our results, we can conclude that genotype of ACE in Egypt DD is the genotype of cases diabetic kidney disease. So the presence of D allele has a significant relation with diabetic kidney disease. Our data confirm the role of ACE in its relationship with diabetic kidney disease in Egyptian type 2 diabetic patients. 展开更多
关键词 ACE Gene polymorphism insertion/deletion Type 2 DIABETES MELLITUS T2DM DIABETIC Kidney Disease DIABETIC NEPHROPATHY MICROVASCULAR Complications of DIABETES MELLITUS
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Association of four GSTs gene polymorphisms with Parkinson disease: A meta-analysis
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作者 Dongjun Dai Yunliang Wang +15 位作者 Lingyan Wang Jinfeng Li Hanlin Zhou Qingqing Ma Xingyu Zhou Jun Pan Guanghui Pan Cheng Chen Limin Xu Ping Ru Hui Wang Shengqian Zhu Yuelong Lv Leiting Xu Meng Ye Shiwei Duan 《Advances in Bioscience and Biotechnology》 2014年第2期100-107,共8页
Parkinson disease (PD) is a neurological disorder with huge destruction to human body, which affects approximately 2% of the population aged 65 years or older. As antioxidants in the stress defence systems, glutathion... Parkinson disease (PD) is a neurological disorder with huge destruction to human body, which affects approximately 2% of the population aged 65 years or older. As antioxidants in the stress defence systems, glutathione S-transferases (GSTs) are dimeric cytosolic enzymes with an important role in the pathogenesis of PD. The aim of this study was to evaluate the association between the polymorphisms of GST genes and PD. Meta-analyses were conducted from 17 studies (38 stages) among 3419 cases and 5686 controls between four polymorphisms (GSTT1 deletion polymorphism;GSTM1 deletion polymorphism;GSTP1-104: rs1695;GSTP1-114: rs1799811) and PD. There is no significant association between the four GST gene variants and PD. A further subgroup study by ethnicity observed a risky role of GSTM1 deletion polymorphism with PD in Europeans (p = 0.013, OR = 1.126, 95% CI = 1.025-1.236), and a protective role of GSTM1 deletion polymorphism with PD in Latin Americans (p = 0.032, OR = 0.750, 95% CI = 0.577-0.975). Our meta-analysis suggested that GSTM1 deletion polymorphism increased the risk of PD in Europeans, but reduced the risk of PD in Latin Americans. Future large-scale studies might be needed to confirm the ethnic difference of GSTM1 deletion polymorphism, and to check whether there was significant association of PD for other GST genetic polymorphisms. 展开更多
关键词 Parkinson GSTM1 deletion polymorphism META-ANALYSIS Europeans GSTT1 GSTP1
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The Frequency of Y Alu Polymorphism (YAP) Indel in the Minangkabau Malays in Peninsular Malaysia
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作者 Wan Nurhayati Wan Hanafi Muhd Shah Jehan Abd Razak +3 位作者 Azzura Abdullah Nor Hazwani Ghani NurAzimah Osman Farida Zuraina Mohd Yusuf 《Journal of Life Sciences》 2014年第9期783-788,共6页
关键词 马来西亚半岛 遗传多态性 频率 状态迁移 琼脂糖凝胶 PCR产物 苏门答腊 Y染色体
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基于重测序的23份香菇种质资源全基因组序列分析
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作者 宋琳琳 陈红芝 +3 位作者 毋柳柳 李畅 孟丽 孔维丽 《中国瓜菜》 CAS 北大核心 2024年第3期28-34,共7页
为了对河南香菇主产区的主栽品种进行鉴定,并分析其遗传多样性,将河南主栽的23份香菇种质资源进行重测序,对单核苷酸多态性(single nucleotide polymorphism,SNP)和小片段插入缺失(insertion-deletion,InDel)等数据进行统计和分析,并基... 为了对河南香菇主产区的主栽品种进行鉴定,并分析其遗传多样性,将河南主栽的23份香菇种质资源进行重测序,对单核苷酸多态性(single nucleotide polymorphism,SNP)和小片段插入缺失(insertion-deletion,InDel)等数据进行统计和分析,并基于SNP变异对23份香菇资源进行遗传结构分析、进化树构建和主成分分析。结果表明,在23份香菇样本中,比对到参考基因组上的reads数目占总数的比例范围为72.53%~90.60%,样品平均测序深度范围为12.83~19.99,覆盖率范围为91.89%~99.32%。SNP位点共计14115075个,InDel共计1909516个。23份香菇样本的群体遗传结构及系统发育分析表明其包含3个谱系,遗传距离0.05490~0.65689,推测它们至少有3个祖先遗传成分。结合主成分分析法明确各菌种间的亲缘关系远近,证明了菌种分支具有明显的地域性。综合分析表明,以基因序列相似度、遗传距离差异及亲缘关系远近为主要依据特点,有助于对香菇地方品种命名和其特征特性关系的认识,促进优异种质资源的交流与利用。 展开更多
关键词 香菇 重测序 单核苷酸多态性 插入缺失变异 群体遗传结构
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人恶性胸膜间皮瘤DNA从头测序及基因突变分析
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作者 邱璐 王播勇 +3 位作者 田梦丽 高顺玉 熊海波 熊伟 《楚雄师范学院学报》 2024年第3期38-49,共12页
通过DNA从头测序分析人胸膜间皮瘤发生的高关联度突变基因。提取恶性胸膜间皮瘤(MPM)组织和正常胸膜组织DNA,构建基因文库,用Illumina HiSeqX Ten PE 150平台测序,将测序结果与人类基因组数据库的参考序列进行比对、注释,并对测序结果... 通过DNA从头测序分析人胸膜间皮瘤发生的高关联度突变基因。提取恶性胸膜间皮瘤(MPM)组织和正常胸膜组织DNA,构建基因文库,用Illumina HiSeqX Ten PE 150平台测序,将测序结果与人类基因组数据库的参考序列进行比对、注释,并对测序结果进行过滤、错误率分布检查、GC含量分布检查分析。MPM组织DNA平均过滤37829946 bp,错误率小于0.12%,GC含量占41.17%,而正常胸膜组织DNA平均过滤39089681 bp,错误率小于0.1%,GC含量占41.7%,两者测序质量均在Q 30(≥80%)以上,MPM为87.43%,正常胸膜为88.36%。以上高质量测序数据通过BWA比对到参考基因组(GRCh 37/hg 19),得到最初比对序列,利用重复标记后的比对序列进行覆盖度、深度等统计,覆盖深度达到10 X以上该突变位点可信。结果显示,实验病例XL14覆盖深度达到10 X的占98.59%,覆盖率达到99.83%;对照病例Z5占98.50%,覆盖率达到99.79%。对该序列进行基因注释分析,发现一系列单核苷酸多态性、基因插入缺失、基因结构变异、基因拷贝数变异,筛选出总变异位点数29277个,可能致病的变异位点数22个,致病性的变异位点数5个,不确定变异有害性的位点数为3353个,其余变异位点均为良性。进一步对突变基因进行富集、关联性分析,预测出突变基因TXNDC2与人胸膜间皮瘤的发生高度相关,相关系数达到0.8以上;突变基因PIEN、ABCC1、UGT1A7、UGT1A3、UGT1A4、UGT1A9、ALDH3B1、UGT1A5等与人胸膜间皮瘤有一定关联性,关联度在0~0.2之间。基因TXNDC2、PIEN、ABCC1、UGT1A7、UGT1A3、UGT1A4、UGT1A9、ALDH3B1、UGT1A5的变异可能与人胸膜间皮瘤的发生发展有关。本实验为人胸膜间皮瘤分子诊断提供了参考。 展开更多
关键词 人胸膜间皮瘤 从头测序 单核苷酸多态性 基因插入缺失 基因结构变异 基因拷贝数变异
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一株具有插入和缺失突变特征鸭腺病毒B2毒株的分离鉴定
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作者 郭博伦 李雅汝 +5 位作者 郑欣 江丹丹 曾丽 陈少莺 马燕梅 陈仕龙 《福建农业学报》 CAS CSCD 北大核心 2024年第2期125-130,共6页
【目的】对一份疑似鸭腺病毒B2(Duck adenovirus B2,DAdV B2)感染的番鸭白肝病的病例进行确诊,并对分离株进行测序,为福建省DAdV B2流行病学研究提供参考。【方法】开展病料PCR检测,并进行病毒的分离鉴定、全基因二代测序,利用MegAlign... 【目的】对一份疑似鸭腺病毒B2(Duck adenovirus B2,DAdV B2)感染的番鸭白肝病的病例进行确诊,并对分离株进行测序,为福建省DAdV B2流行病学研究提供参考。【方法】开展病料PCR检测,并进行病毒的分离鉴定、全基因二代测序,利用MegAlign和SnapGene软件对测序结果进行同源性及遗传进化分析,再进行动物回归试验,确定对雏番鸭的致病性。【结果】病料样本检测为DAdV B2阳性,并成功分离到一株DAdV B2毒株,命名为DAdV B2/BG48。该分离株感染鸡肝癌细胞(LMH)后细胞变大变圆、最后死亡崩解,形成特征性细胞病变;感染MDEF后细胞由长梭形变为圆形并聚集,细胞间出现空隙。测序结果表明,BG48基因组在pX基因区域中有3 bp的插入,在ORF19B基因区域有33 bp的插入,在ORF64和ORF67基因区域的交界处有42 bp的缺失,ORF67基因起始密码子往后第133位碱基为G,没有突变为终止密码子,其他编码基因与CH-GD-12-2014、实验室之前鉴定的BG27和BG18无特征性差异。动物回归试验显示,2日龄的番鸭对DAdV B2分离株BG48易感,致病率为50%,死亡率为0,发病鸭可见与自然感染病鸭相似的临床症状和病理变化。【结论】成功从番鸭白肝病病例中分离鉴定1株DAdV B2突变株BG48,BG48具有多位点插入和缺失特征,提示DAdV B2毒株容易突变,临床流行毒株复杂。本结果为DAdV B2的分子流行病学调查和遗传进化研究提供了参考。 展开更多
关键词 番鸭白肝病 鸭腺病毒B2 分离鉴定 插入和缺失 ORF67
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高血压患者ACE基因Insertion/Deletion多态性中的罕见突变1例
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作者 李娅亨 王倩 +1 位作者 杨杉 李亚峰 《中国分子心脏病学杂志》 CAS 2024年第2期6069-6072,共4页
高血压是最强的心血管危险因素之一,目前我国高血压的患病人数已达约2.45亿[1]。《中国心血管健康与疾病报告2021》数据显示,我国≥18岁成人高血压知晓率41.0%,治疗率34.9%,控制率仅11.0%。在高血压的用药治疗方面,由于用药种类繁多,且... 高血压是最强的心血管危险因素之一,目前我国高血压的患病人数已达约2.45亿[1]。《中国心血管健康与疾病报告2021》数据显示,我国≥18岁成人高血压知晓率41.0%,治疗率34.9%,控制率仅11.0%。在高血压的用药治疗方面,由于用药种类繁多,且存在药物反应的个体差异,通常会导致抗高血压药物的疗效不佳或不良反应[2]。2015年,国家卫生和计划生育委员会发布的《药物代谢酶和药物作用靶点基因检测技术指南(试行)》[3]。 展开更多
关键词 高血压 血管紧张素转换酶(ACE)基因 PCR溶解曲线法 insertion/deletion多态性 一代测序
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结直肠神经内分泌肿瘤细胞突变类型分析
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作者 王婷婷 郭丹 +4 位作者 陆君阳 徐徕 董海涛 林佃新 肖毅 《基础医学与临床》 CAS 2024年第4期523-527,共5页
目的 探讨结直肠神经内分泌肿瘤(NETs)的突变类型,更好地了解结直肠NETs的发病机制。方法 招募结直肠NETs手术患者,取结直肠NETs和对应的癌旁组织,并进行全基因组测序(WGS)和进一步深入分析。结果 通过WGS测序发现,结直肠NETs突变类型多... 目的 探讨结直肠神经内分泌肿瘤(NETs)的突变类型,更好地了解结直肠NETs的发病机制。方法 招募结直肠NETs手术患者,取结直肠NETs和对应的癌旁组织,并进行全基因组测序(WGS)和进一步深入分析。结果 通过WGS测序发现,结直肠NETs突变类型多样,包括单核苷酸突变、小片段序列的插入和缺失突变(InDel)、基因拷贝数变异(CNV),以及大的结构性变异(SV)如插入(INS)、缺失(DEL)、染色体内易位(ITX)、染色体间易位(CTX)和反转(INV)等。结论 在结直肠NETs发生时,体细胞发生了大量的突变,尤其以染色体CTX变异最为显著。 展开更多
关键词 结直肠神经内分泌肿瘤 单核苷酸突变 插入和缺失 基因拷贝数变异 结构性变异
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槐山羊PFOXic基因多态性与间性性状关联分析
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作者 哈斯通拉嘎 宋小雨 +7 位作者 姚志云 蒯子茹 李君 魏红芳 王拥庆 尹慧茹 权凯 韩浩园 《中国兽医杂志》 CAS 北大核心 2024年第5期63-70,共8页
间性是一种多发于山羊群体的先天性繁殖障碍疾病。为了解槐山羊间性性状发生机制,叉头转录因子2(FOXL2)启动子反向互补(PFOXic)基因的遗传多态性及其与间性性状的关系,本试验进行了间性槐山羊Y染色体易位分析、无角间性综合征(PIS)区缺... 间性是一种多发于山羊群体的先天性繁殖障碍疾病。为了解槐山羊间性性状发生机制,叉头转录因子2(FOXL2)启动子反向互补(PFOXic)基因的遗传多态性及其与间性性状的关系,本试验进行了间性槐山羊Y染色体易位分析、无角间性综合征(PIS)区缺失检测、PFOXic基因单核苷酸多态性(SNP)分析和PFOXic基因型与间性性状的关联分析。结果显示,间性槐山羊染色体构成不含Y染色体,且PIS区均纯合缺失;在PFOXic基因中共检测到4个SNP:g.129749119 T>C、g.129749087 C>T、g.129748782 T>C和g.129747880 T>C,其中g.129749087 C>T为错义突变。SNP突变位点分析结果显示,g.129749119 T>C、g.129748782 T>C和g.129747880 T>C突变为中度多态,g.129749087 C>T突变为低度多态,4个SNP均处于Hardy-Weinberg平衡(P>0.05)。SNP和基因型与间性性状关联分析结果显示,g.129749119 T>C突变位点与槐山羊间性性状之间存在显著相关性(P=0.023),CC基因型与CT和TT基因型间均差异显著(P<0.05);单倍型与间性性状关联分析结果显示,CCCC单倍型与CTTT单倍型间差异显著(P<0.05),CCCC单倍型与TCCT和TCCC单倍型间均差异极显著(P<0.01)。结果表明,间性槐山羊PIS区缺失,且PFOXic基因g.129749119 T>C突变与间性性状相关,本试验结果为进一步研究山羊间性性状发生机制和PFOXic基因功能提供参考依据。 展开更多
关键词 槐山羊 间性 PIS区缺失 PFOXic基因 遗传多态性 关联分析
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基于单核苷酸多态性微阵列分析技术对染色体片段缺失孕妇引产选择的指导价值分析
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作者 钟丽群 欧阳宁 《中国当代医药》 CAS 2024年第5期103-106,110,共5页
目的分析单核苷酸多态性微阵列(SNP-array)技术诊断胎儿染色体缺失的敏感性与准确性,探讨其在孕妇引产选择上的临床指导价值。方法回顾性选取萍乡市妇幼保健院2020年1月至2022年5月接受孕检的有产前诊断指征如高龄、不良妊娠史、超声检... 目的分析单核苷酸多态性微阵列(SNP-array)技术诊断胎儿染色体缺失的敏感性与准确性,探讨其在孕妇引产选择上的临床指导价值。方法回顾性选取萍乡市妇幼保健院2020年1月至2022年5月接受孕检的有产前诊断指征如高龄、不良妊娠史、超声检查异常的1007例孕妇的临床资料,所有孕妇均行染色体核型检测,同时进行SNP-array技术完成胎儿产前遗传学诊断,根据诊断结果为孕妇提供染色体缺失对子女成长发育的危害的相关知识,由父母进行引产或继续妊娠选择。以染色体核型检测结果为金标准,计算SNP-array技术诊断胎儿染色体异常的敏感度与准确度,分析SNP-array技术对染色体片段缺失诊断的临床价值和孕妇引产选择的指导价值。结果经染色体核型检测共73例(7.25%)胎儿检测出染色体异常。SNP-array技术诊断确认共108例(10.72%)胎儿检测出染色体异常,其中26例(2.58%)为染色体片段缺失。26例染色体片段缺失案例中引产15例,继续妊娠并产出子女11例。SNP-array检测染色体异常准确度为91.36%、敏感度为64.38%、特异度为93.47%,Kappa值=0.474。在染色体片段缺失的诊断上,SNP-array技术检测准确度为97.91%、敏感度为100.00%、特异度为97.90%,Kappa值=0.317。结论SNP-array技术产前遗传学诊断胎儿染色体片段缺失,指导孕妇引产结局较传统染色体核型检测良好,在提高妊娠结局上具有较高临床价值,但一致性和敏感性较差,无法单独替代染色体核型检测,临床上宜将两种检查方法联合使用以提高诊断质量。 展开更多
关键词 产前遗传学诊断 染色体核型 单核苷酸多态性微阵列技术 染色体片段缺失 引产
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Association of angiotensin converting enzyme gene insertion/deletion polymorphism with essential hypertension in south Indian population 被引量:2
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作者 Ramalingam Krishnan Durairaj Sekar +1 位作者 Santha karunanithy Sethupathy Subramanium 《Genes & Diseases》 SCIE 2016年第2期159-163,共5页
Genetic,environmental and demographic factors contribute to the development of essential hypertension.Genetic polymorphism of Rennin-angiotensin-aldosterone system(RAAS)has been extensively studied to determine the ge... Genetic,environmental and demographic factors contribute to the development of essential hypertension.Genetic polymorphism of Rennin-angiotensin-aldosterone system(RAAS)has been extensively studied to determine the genetic susceptibility to hypertension.The insertion/deletion(I/D)angiotensin converting enzyme(ACE)polymorphism has been established as a cardiovascular risk factor in some population,but its association with essential hypertension is controversial.This study sought to determine the association of I/D polymorphism of the ACE gene in south Indian essential hypertensive subjects.A total of 208 clinically diagnosed essential hypertensive patients without any associated diseases and 220 healthy control subjects were included in this study.Distribution and allelic frequency of Insertion(I)and Deletion(D)polymorphism at the 287 base pair Alu repeat sequence in the intron 16 of ACE gene were analyzed.The distribution of II,ID,DD genotypes of ACE gene was 28.3%,32.6%and 38.9%respectively in essential hypertensive patients and to 53.6%,26.3%and 20%in controls.The allele frequency for D allele is 0.58 in essential hypertension as compared to 0.34 of control subjects.The genotype and allele frequency of ACE gene polymorphism is significantly differed in patients when compared to controls.In conclusion,the I/D polymorphism of ACE gene is associated with Indian essential hypertension. 展开更多
关键词 Angiotensin converting enzyme Essential hypertension insertion/deletion polymorphism Renin angiotensin aldosterone system GENOTYPES
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Ethnic differences in the association between angiotensin-converting enzyme gene insertion/deletion polymorphism and peripheral vascular disease: A meta-analysis 被引量:1
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作者 Chao Han Xi-Kun Han +1 位作者 Fang-Chao Liu Jian-Feng Huang 《Chronic Diseases and Translational Medicine》 CSCD 2017年第4期230-241,共12页
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