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遗传性神经系统变性病1例
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作者 石夏明 《河北精神卫生》 2001年第1期59-59,共1页
关键词 遗传 病理 诊断 治疗 遗传性神经系统性病
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常染色体显性遗传脊髓小脑性共济失调表型和基因型的相关性 被引量:3
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作者 段晓慧 顾卫红 王国相 《中日友好医院学报》 2008年第1期41-43,共3页
常染色体显性遗传性共济失调(autosomal dominant cerebellar ataxia,ADCA)是一组以共济失调为主的常染色体显性遗传性神经系统变性病,病变部位主要在脊髓、小脑和脑干,故又称为脊髓小脑性共济失调(spinocerebellar ataxia,SCA... 常染色体显性遗传性共济失调(autosomal dominant cerebellar ataxia,ADCA)是一组以共济失调为主的常染色体显性遗传性神经系统变性病,病变部位主要在脊髓、小脑和脑干,故又称为脊髓小脑性共济失调(spinocerebellar ataxia,SCA)。其他组织如脊神经、脑神经、交感神经、基底节、丘脑、丘脑下部、大脑皮层均可受累,还可有其他系统异常,如骨骼畸形、眼部病症、 展开更多
关键词 脊髓小脑性共济失调 常染色体显性遗传 遗传性神经系统性病 基因型 遗传性共济失调 表型 丘脑下部 部位
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亨廷顿病一家系报道及相关文献回顾分析 被引量:2
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作者 张元 郭晓红 +4 位作者 刘国荣 吴娟 武田琳 许爱珍 李秀娥 《中风与神经疾病杂志》 CAS 2022年第1期78-80,共3页
亨廷顿病(Huntington disease,HD)又称亨廷顿舞蹈病,临床上以隐匿起病、缓慢进展的舞蹈症、精神异常和痴呆为特征。该病是一种常染色体显性遗传性神经变性病,遗传方式为基因动态突变,具有遗传早现特点。我们收集1例亨廷顿病家系,3代人... 亨廷顿病(Huntington disease,HD)又称亨廷顿舞蹈病,临床上以隐匿起病、缓慢进展的舞蹈症、精神异常和痴呆为特征。该病是一种常染色体显性遗传性神经变性病,遗传方式为基因动态突变,具有遗传早现特点。我们收集1例亨廷顿病家系,3代人中共有8例发病,本文对该家系先证者临床症状及神经影像学、基因检测等结果进行分析总结,并结合相关文献进行讨论。 展开更多
关键词 亨廷顿病 临床表现 HTT基因检测 遗传变性病 文献回顾分析
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A Preliminary Study on Genetic Variation of g E Gene of an Epidemic Pseudorabies Virus Strain and Its Pathogenicity to Piglets 被引量:3
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作者 郭容利 王继春 +4 位作者 茅爱华 温立斌 李彬 倪艳秀 何孔旺 《Agricultural Science & Technology》 CAS 2015年第5期926-930,共5页
[Objective] This study aimed to investigate the genetic variation of g E gene of an epidemic pseudorabies virus(PRV) strain and its pathogenicity to piglets. [Method] By serial passage in Vero cells, a PRV strain wa... [Objective] This study aimed to investigate the genetic variation of g E gene of an epidemic pseudorabies virus(PRV) strain and its pathogenicity to piglets. [Method] By serial passage in Vero cells, a PRV strain was isolated from the brain tissues of stillborn fetuses delivered by sows with suspected PRV infection and preliminarily identified by PCR. g E gene of the isolated PRV strain was amplified and sequenced for phylogenetic analysis. In addition, the pathogenicity of the isolated PRV strain to 6-week-old piglets was evaluated. [Result] A PRV strain was successfully isolated and named PRV N5 B strain, which could proliferate in Vero cells and TCID50 of the 15 thgeneration virus liquid reached 10^7.125/0.1 ml. Specific bands could be amplified by PCR. g E gene in the isolated PRV strain was 1 740 bp in length. A phylogenetic tree was constructed based on full-length g E sequences, which showed that PRV N5 B strain and PRV strains isolated since 2012 were clustered into the same independent category and shared 99.7%-100% homology of nucleotide sequences. Compared with related sequences published previously, there were insertions of three consecutive bases at two loci. Animal experiments showed that intranasal inoculation of 6-week-old piglets with 2 ml of PRV N5 B strain(10^6/0.1 ml) led to a mortality rate of 100%. [Conclusion] In this study,genetic variability of g E gene in PRV N5 B isolate and its pathogenicity to piglets were analyzed, which provided a theoretical basis for the development of new vaccines to prevent and control porcine pseudorabies. 展开更多
关键词 Pseudorabies virus ISOLATION Identification Genetic variation PATHOGENICITY
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舞蹈病-棘状红细胞增多症1例报道
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作者 陈艳红 杨凤翔 +2 位作者 薛霜 袁野 孙涛 《神经损伤与功能重建》 2015年第2期187-188,共2页
舞蹈病-棘状红细胞增多症(chorea.acanthocytosis,Ch Ac)主要的临床特点是不自主舞蹈样运动,以口唇咀嚼样动作、下颌不自主运动、舌唇自咬为典型特点,伴有外周血棘状红细胞增多,属于遗传性神经系统变性病,临床罕见。本文回顾性分析1... 舞蹈病-棘状红细胞增多症(chorea.acanthocytosis,Ch Ac)主要的临床特点是不自主舞蹈样运动,以口唇咀嚼样动作、下颌不自主运动、舌唇自咬为典型特点,伴有外周血棘状红细胞增多,属于遗传性神经系统变性病,临床罕见。本文回顾性分析1例舞蹈病-棘状红细胞增多症患者的临床资料,并复习相关文献。 展开更多
关键词 舞蹈病-棘状红细胞增多症 临床特点 遗传性神经系统性病
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泛酸激酶相关性神经变性病的临床特征和分子机制 被引量:3
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作者 彭超 汤颖 李国忠 《中华神经科杂志》 CAS CSCD 北大核心 2012年第9期678-680,共3页
泛酸激酶相关性神经变性病(pantothenate kinase associated neurodegeneration,PKAN),又称脑内金属离子沉积性神经变性病1型,即通常所称的Hallervorden—Spatz综合征或苍白球黑质色素变性,是少见的常染色体隐性遗传性神经系统变... 泛酸激酶相关性神经变性病(pantothenate kinase associated neurodegeneration,PKAN),又称脑内金属离子沉积性神经变性病1型,即通常所称的Hallervorden—Spatz综合征或苍白球黑质色素变性,是少见的常染色体隐性遗传性神经系统变性病。 展开更多
关键词 神经性病 相关性 分子机制 临床特征 激酶 泛酸 遗传性神经系统性病 苍白球黑质色素
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The Gene of Megalencephalic Leukoencephalopathy with Subcortical Cysts is Mapped on Chromosome 22q13.3 with 250 kb Interval
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作者 袁宝强 Peter AJ Leegwater +2 位作者 Andrea AM Konst Jan C Pronk Marjo S van der Knaap 《Journal of Nanjing Medical University》 2003年第4期173-182,共10页
Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q ... Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC. 展开更多
关键词 vacuolating megalencephalic leukoencephalopathy with subcortical cysts autosomal recessive mode of inheritance chromosome 22 linkage analysis position cloning microsatellite marker single-nucleotide polymorphisms
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少见肾小管间质性疾病的临床及病理特征分析 被引量:1
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作者 施克雯 袁曙光 +6 位作者 黄瑶 李峥 王畅 刘虹 孙林 刘伏友 朱雪婧 《中南大学学报(医学版)》 CAS CSCD 北大核心 2022年第10期1365-1374,共10页
目的:肾小管间质性疾病是导致肾功能不全较为常见的原因之一,一些少见病理类型因其患病率低、认识相对不足,易被误诊、漏诊,影响患者的治疗和预后。本研究通过探讨几种少见肾小管间质性疾病的临床、肾脏病理特征,为临床诊治少见肾小管... 目的:肾小管间质性疾病是导致肾功能不全较为常见的原因之一,一些少见病理类型因其患病率低、认识相对不足,易被误诊、漏诊,影响患者的治疗和预后。本研究通过探讨几种少见肾小管间质性疾病的临床、肾脏病理特征,为临床诊治少见肾小管间质性疾病提供参考。方法:从2011年11月至2021年9月在中南大学湘雅二医院肾内科完善肾活检的9363例患者中,筛选出轻链管型肾病(light chain cast nephropathy,LCCN)6例、轻链近端肾小管病(light chain proximal tubulopathy,LCPT)2例、LCCN合并LCPT 1例、遗传性肾小管间质性疾病4例、非遗传相关性肾小管间质性病变6例。收集所有患者的临床表现,实验室检查、影像学检查、肾活检病理结果,并进行比较和分析。结果:LCCN患者表现为轻中度贫血、镜下血尿和轻到中度蛋白尿。与LCPT患者相比,LCCN患者24 h尿蛋白定量水平更高,Hb水平更低。5例LCCN患者和2例LCPT患者血清游离轻链以κ升高为主。5例LCCN患者临床表现为急性肾损伤(acute kidney injury,AKI)。2例LCPT患者及1例LCCN合并LCPT患者表现为慢性肾脏病(chronic kidney disease,CKD)合并AKI,其中1例LCPT表现为典型的范科尼综合征(Fanconi syndrome,FS)。5例LCCN、2例LCPT、1例LCCN合并LCPT患者诊断为多发性骨髓瘤。LCCN免疫荧光表现为肾小管管型单克隆轻链阳性,以κ轻链限制为主,光镜下表现为过碘酸希夫(periodic acid-Schiff,PAS)染色淡染的裂纹状蛋白管型。免疫组织化学染色示2例LCPT患者近端肾小管上皮细胞κ轻链染色强阳性。电镜下可见结晶型LCPT单克隆轻链结晶;非结晶型LCPT溶酶体数量增多、体积增大,其内有形态各异的包涵体。6例LCCN患者以化学治疗(以下简称化疗)为主,1例肾功能恶化,4例肾功能稳定,1例肾功能好转。2例LCPT患者行化疗后肾功能均好转。4例遗传性肾小管间质性疾病患者临床均表现为CKD,多为轻度蛋白尿,伴或不伴镜下血尿,还可表现为高尿酸血症、血糖正常的糖尿、贫血、多囊肾,仅1例具有明确家族史,确诊主要依靠特征性肾脏病理表现和基因检测。相较于非遗传相关性肾小管间质性病变,遗传性肾小管间质性疾病患者发病年龄更小、血尿酸更高、Hb水平和估算的肾小球滤过率(estiated glomemlar fitration,eGFR)更低、水肿和高血压程度更轻。遗传性肾小管间质性疾病肾脏病理多表现为肾小管萎缩和间质纤维化、肾小管异常扩张、肾小囊腔扩张、毛细血管袢皱缩于血管极,肾小球可见发育不良及不同程度的硬化;治疗主要以肠道透析、降尿酸或降糖等治疗为主,其中2例患者肾功能明显恶化,2例肾功能稳定。结论:血清免疫固定电泳异常和/或血清游离轻链阳性患者,若临床表现为AKI或FS,要警惕LCCN或LCPT,肾活检是明确诊断的关键,化疗可延缓肾功能不全的进展。光镜下如果具有非萎缩区肾小囊腔扩张、球袢皱缩、肾小管异常扩张的特点,应警惕遗传性肾小管间质性疾病,应追踪家族史,必要时通过基因检测确诊。 展开更多
关键词 肾小管间质性疾病 轻链管型肾病 轻链近端肾小管病 遗传性肾小管间质性疾病 遗传相关性肾小管间质性病 肾脏病理
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CLINICAL AND GENETIC ANALYSIS OF THREE FAMILIES WITH FAMILIAR AMYLOID POLYNEUROPATHY 被引量:3
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作者 Yan-feng Li Hou Ng +1 位作者 Iok Sun U Waii Leong 《Chinese Medical Sciences Journal》 CAS CSCD 2008年第4期230-233,共4页
Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestation... Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestations, histological features, and gene analysis. Results All the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families. Conclusion FAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation. 展开更多
关键词 familiar amyloid polyneuropathy AMYLOIDOSIS gene mutation
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Genetic Variation of Isolates of Verticillium dahfiae Kleb Using Random Amplified Polymorphic DNA (RAPD)
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作者 H. H. Al-Taae A. K. Al-Taae 《Journal of Agricultural Science and Technology(B)》 2011年第5期645-654,共10页
An increasing incidence and distribution of Verticillium wilt has occurred in the last few years in newly established olive orchards in Nineveh province, northern Iraq. This spread of the disease may result from use o... An increasing incidence and distribution of Verticillium wilt has occurred in the last few years in newly established olive orchards in Nineveh province, northern Iraq. This spread of the disease may result from use of Verticillium dahliae infected planting material. In this work genetic variation among the isolates of F. dahliae from Iraq and Jordan were analyzed by using Random Amplified Polymorphic DNA (RAPD) marker techniques for the first time in Iraq. The results of using 85 primers showed that 17 primers (Z1, Z19, T13, R10, RI5, RI6, F5, F6, FI0, AI5, AI9, B12, M1, M2, M3, M4 and M5) showed significant results with 30 isolates of I,: dahliae using RAPD and the best results were found with the primers M1, M2, M3, M4 and M5 which exhibited a clear difference between isolates. The genetic similarity between isolates ranged from 5% in the two isolates Alshallalat/2 and Tomato/Alkerak to 88% for Bashaika 1 and 2, while the average genetic variation between all isolates reached 58%. 展开更多
关键词 Olive wilt Verticillium dahliae genetic variation RAPD
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Physiological Races of Fusarium oxysporum f. sp. Ciceris in Iraq
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作者 Ali Kareem Al-Taae Hamid All Hadwan Saleh Ahmed Eesa AI-Jobory 《Journal of Life Sciences》 2013年第10期1070-1075,共6页
Twenty isolates of Fusarium oxysporum f. sp. ciceris were isolated from wilted chickpea plants obtained from different districts of north part of Iraq to assess variability in pathogenicity of the populations. Each is... Twenty isolates of Fusarium oxysporum f. sp. ciceris were isolated from wilted chickpea plants obtained from different districts of north part of Iraq to assess variability in pathogenicity of the populations. Each isolate was tested on 12 differential chickpea varieties. Isolates showed highly significant variation in wilt severity on the differential varieties. Based on the reaction types that induced on differential varieties, isolates were grouped into four groups, First group included isolates FocSl, FocQ7, FocQ 10, FocFI3, FocH 17 and FocHl8; the second group included isolates FocS2, FocS3, FocS4, FocQ5, FocQ8, FocQ9, FocF11, FocF12, FocFl4 and FocH19; the third group included isolates FocF15, FocHl6, FocH20; where the isolate FocQ6 was placed in the fourth group. Results showed that the percentage of genetic similarity was ranged 42% to 100% and was 42% between the first group and other groups and 72% between the three groups the rest and thus this indicate the presence of four races of the fungus which are O, 4, 5 and 1B/C, this represent the first record of these races in lraq. 展开更多
关键词 Chickpea wilt Cicer arietinum Fusarium oxysporum f. sp. ciceris pathogenic variability.
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儿童型Hallervorden-Spatz病二例
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作者 王康 杨晓苏 +3 位作者 李玲 周琳 肖岚 肖波 《中华儿科杂志》 CAS CSCD 北大核心 2005年第2期151-152,共2页
关键词 儿童型Hallervorden-Spatz病 遗传性神经性病 诊断 基因突
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