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
目的了解血管紧张素转换酶(ACE)基因多态性与汉族原发性高血压的易惑相关性。方法应用聚合酶链反应(PCR)鉴定高血压患者与正常血压对照者ACE基因第16内含子插入/缺失多态性。结果原发性高血压患者中ACE基因缺失纯合基因型(D/D)和缺失(D...目的了解血管紧张素转换酶(ACE)基因多态性与汉族原发性高血压的易惑相关性。方法应用聚合酶链反应(PCR)鉴定高血压患者与正常血压对照者ACE基因第16内含子插入/缺失多态性。结果原发性高血压患者中ACE基因缺失纯合基因型(D/D)和缺失(D)等位基因频率均明显高于正常血压对照者(51.9%vs15.7%,0.69 vs 0.31,P<0.05)。结论 ACE基因缺失纯合型可能是汉族原发性高血压遗传易感性的基因标志。展开更多
目的:人类Toll样受体2(TLR2)是先天免疫系统中一个重要的病原微生物识别受体。本研究将建立广东汉族人群TLR2基因座位的功能性多态性图谱,为下一步疾病相关性研究打下基础。方法:收集200例健康、无亲缘关系的中国广东汉族人外周血液,随...目的:人类Toll样受体2(TLR2)是先天免疫系统中一个重要的病原微生物识别受体。本研究将建立广东汉族人群TLR2基因座位的功能性多态性图谱,为下一步疾病相关性研究打下基础。方法:收集200例健康、无亲缘关系的中国广东汉族人外周血液,随机抽取其中24例样品,对TLR2基因的启动子区、3个外显子以及它们周围的部分内含子序列进行聚合酶链式反应(PCR)扩增和直接测序,找出多态性位点,对剩余176例样品分别用序列特异性引物聚合酶链反应(PCR-SSP)及PCR技术对发现的单核苷酸多态性(SNPs)和插入/缺失(INDEL)多态性位点进行基因分型,分型结果进行Hardy-W e inberg平衡分析、中性进化分析以及连锁不平衡分析。结果:发现5个SNPs位点,其中2个位于启动子区的SNPs是首次发现,位于编码区的3个SNPs位点均为同义突变,频率最高的SNP是rs3804099,其次要等位基因频率为26.3%;在第1外显子区发现1个长度为22bp的INDEL多态位点(-196到-174),其缺失等位基因所占的频率为31.8%。所有多态性位点均符合Hardy-W e inberg平衡。中性检验显示广东汉族人群TLR2基因符合中性进化假说。连锁不平衡分析显示位于调控区的-18945 C/T和-18883 C/G 2位点之间完全连锁,而位于编码区的rs3804099和rs3804100两位点之间紧密连锁。结论:本研究首次建立了汉族正常人群TLR2基因座位的功能性多态性图谱,并研究了其分布频率,发现了一些种族特异性的多态性位点,为今后开展汉族人基因多态性与疾病相关性研究以及人群进化研究提供了重要资料。展开更多
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
Genotyping by sequencing(GBS) is the recent approach of next-generation sequencing technique for discovering and genotyping single nucleotide polymorphisms(SNPs) in crop species. Genotypic variation studies(SNPs and i...Genotyping by sequencing(GBS) is the recent approach of next-generation sequencing technique for discovering and genotyping single nucleotide polymorphisms(SNPs) in crop species. Genotypic variation studies(SNPs and insertion-deletions/In Dels) were performed using four rice lines based on GBS data by aligning to the reference genome Nipponbare. Local aromatic rice landrace Tulaipanji was crossed with Ranjit, and two distinct lines were identified from the progenies: one line with awns and aroma traits and the other without awns and aroma. Total number of SNPs and In Dels identified were 52 810 and 4 327 at read depth 10, respectively. Out of the total polymorphic SNPs/In Dels, 16 490 were intergeneric, 7 812 were inside gene, and 4 435 were intronic. Phylogenetically, Tulaipanji was closer to the reference genome nipponbare. Based on recurrent parent genome analysis, out of 10 013 alleles, 92.52% was introgressed into progeny-awn from Tulaipanji and 7.48% from Ranjit, whereas progeny-awnless carried 89.19% alleles from Ranjit and only 10.81% alleles from Tulaipanji. In addition, progeny-awn was the highest heterozygous(83.88%) and progeny-awnless was the least(2.24%) at this fifth generation of recombinant inbred lines. These SNP variations may be linked to the phenotypic traits and can be utilized in crop improvement through linkage mapping. These results suggest that adding a high density of SNP markers to a mapping or breeding population through GBS has a great value for numerous applications in rice breeding and genetics research.展开更多
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
文摘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.
文摘目的了解血管紧张素转换酶(ACE)基因多态性与汉族原发性高血压的易惑相关性。方法应用聚合酶链反应(PCR)鉴定高血压患者与正常血压对照者ACE基因第16内含子插入/缺失多态性。结果原发性高血压患者中ACE基因缺失纯合基因型(D/D)和缺失(D)等位基因频率均明显高于正常血压对照者(51.9%vs15.7%,0.69 vs 0.31,P<0.05)。结论 ACE基因缺失纯合型可能是汉族原发性高血压遗传易感性的基因标志。
文摘目的:人类Toll样受体2(TLR2)是先天免疫系统中一个重要的病原微生物识别受体。本研究将建立广东汉族人群TLR2基因座位的功能性多态性图谱,为下一步疾病相关性研究打下基础。方法:收集200例健康、无亲缘关系的中国广东汉族人外周血液,随机抽取其中24例样品,对TLR2基因的启动子区、3个外显子以及它们周围的部分内含子序列进行聚合酶链式反应(PCR)扩增和直接测序,找出多态性位点,对剩余176例样品分别用序列特异性引物聚合酶链反应(PCR-SSP)及PCR技术对发现的单核苷酸多态性(SNPs)和插入/缺失(INDEL)多态性位点进行基因分型,分型结果进行Hardy-W e inberg平衡分析、中性进化分析以及连锁不平衡分析。结果:发现5个SNPs位点,其中2个位于启动子区的SNPs是首次发现,位于编码区的3个SNPs位点均为同义突变,频率最高的SNP是rs3804099,其次要等位基因频率为26.3%;在第1外显子区发现1个长度为22bp的INDEL多态位点(-196到-174),其缺失等位基因所占的频率为31.8%。所有多态性位点均符合Hardy-W e inberg平衡。中性检验显示广东汉族人群TLR2基因符合中性进化假说。连锁不平衡分析显示位于调控区的-18945 C/T和-18883 C/G 2位点之间完全连锁,而位于编码区的rs3804099和rs3804100两位点之间紧密连锁。结论:本研究首次建立了汉族正常人群TLR2基因座位的功能性多态性图谱,并研究了其分布频率,发现了一些种族特异性的多态性位点,为今后开展汉族人基因多态性与疾病相关性研究以及人群进化研究提供了重要资料。
文摘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.
基金the Authority of the University of North Bengal for giving financial assistance and field work facility to carry out this Research Project on Molecular Breeding on Rice(2015–2016)
文摘Genotyping by sequencing(GBS) is the recent approach of next-generation sequencing technique for discovering and genotyping single nucleotide polymorphisms(SNPs) in crop species. Genotypic variation studies(SNPs and insertion-deletions/In Dels) were performed using four rice lines based on GBS data by aligning to the reference genome Nipponbare. Local aromatic rice landrace Tulaipanji was crossed with Ranjit, and two distinct lines were identified from the progenies: one line with awns and aroma traits and the other without awns and aroma. Total number of SNPs and In Dels identified were 52 810 and 4 327 at read depth 10, respectively. Out of the total polymorphic SNPs/In Dels, 16 490 were intergeneric, 7 812 were inside gene, and 4 435 were intronic. Phylogenetically, Tulaipanji was closer to the reference genome nipponbare. Based on recurrent parent genome analysis, out of 10 013 alleles, 92.52% was introgressed into progeny-awn from Tulaipanji and 7.48% from Ranjit, whereas progeny-awnless carried 89.19% alleles from Ranjit and only 10.81% alleles from Tulaipanji. In addition, progeny-awn was the highest heterozygous(83.88%) and progeny-awnless was the least(2.24%) at this fifth generation of recombinant inbred lines. These SNP variations may be linked to the phenotypic traits and can be utilized in crop improvement through linkage mapping. These results suggest that adding a high density of SNP markers to a mapping or breeding population through GBS has a great value for numerous applications in rice breeding and genetics research.
文摘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.
