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GABAB receptor upregulates fragile X mental retardation protein expression in neurons 被引量:1
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《中国药理学通报》 CAS CSCD 北大核心 2015年第B11期84-84,共1页
Aim Fragile X mental retardation protein (FMRP) is an RNA-binding protein important for the control of translation and synaptic function. The mutation or silencing of FMRP causes Fragile X syndrome (FXS) , which l... Aim Fragile X mental retardation protein (FMRP) is an RNA-binding protein important for the control of translation and synaptic function. The mutation or silencing of FMRP causes Fragile X syndrome (FXS) , which leads to intellectual disability and social impairment. γ-aminobutyric acid (GABA) is the major inhibitory neuro- transmitter of the mammalian central nervous system, and its metabotropic GABAB receptor has been implicated in various mental disorders. The GABAB receptor agonist baclofen has been shown to improve FXS symptoms in a mouse model and in human patients, suggesting the role of GABAB receptor on FMRP regulation. Here we investi- gated the signaling events linking the GABAB receptor and FMRP. Methods Western blot was used in this study to detect protein expression and kinase phosphorylation in cerebellar granule neurons. For key molecules in signal- ling pathway, RNAi was used in MEFs to confirm the results in neurons. Results GABAB receptor activation up- regulated cAMP response element binding protein-dependent Fmrp expression in cultured mouse cerebellar granule neurons via two distinct mechanisms: the transactivation of insulin-like growth factor-1 receptor and activation of protein kinase C. In addition, a positive allosteric modulator of the GABAB receptor, CGP7930, stimulated Fmrp expression in neurons. Conclusion These results suggest a role for GABAB receptor in Fmrp regulation and a po- tential interest of GABAB receptor signaling in FXS improvement. 展开更多
关键词 GABAB RECEPTOR fragile x mental retardation protein fragile x syndrome CREB INSULIN-LIKE growthfactor 1 RECEPTOR PKC positive ALLOSTERIC modulator
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伴有癫痫的脆性X综合征家系1例
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作者 黄健 吴远霞 +7 位作者 范宽 刘蕊 张鹏举 韩璐 杨媛媛 刘嘉鹏 李世容 胡晓 《中国神经精神疾病杂志》 CAS CSCD 北大核心 2024年第1期30-32,共3页
脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,... 脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,其中先证者伴有罕见的晚发性癫痫发作,经左乙拉西坦治疗效果良好,而其弟弟经反复随访未见脑电图异常。该对病例提示FXS临床表型具有多样性和异质性。 展开更多
关键词 脆性x综合征 FMR1基因 脆性x智力低下蛋白质 神经发育障碍 癫痫 遗传性疾病 异质性
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Fragile X syndrome and epilepsy
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作者 邱立枫 郝艳红 +1 位作者 李庆章 熊志奇 《Neuroscience Bulletin》 SCIE CAS CSCD 2008年第5期338-344,共7页
Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the transl... Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations. 展开更多
关键词 EPILEPSY fragile x mental retardation protein metabotropic glutamate receptor y-aminobutyric acid dendritic spines
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Prevalence of fragile X syndrome in males and females in Indonesia
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作者 Farmaditya EP Mundhofir Tri I Winarni +6 位作者 Willy Nillesen Bregje WM van Bon Marga Schepens Martina Ruiterkamp-Versteeg Ben CJ Hamel Helger G Yntema Sultana MH Faradz 《World Journal of Medical Genetics》 2012年第3期15-21,共7页
AIM: To investigate the prevalence of fragile X syndrome(FXS) in intellectually disabled male and female Indonesians.METHODS: This research is an extension of a previously reported study on the identification of chrom... AIM: To investigate the prevalence of fragile X syndrome(FXS) in intellectually disabled male and female Indonesians.METHODS: This research is an extension of a previously reported study on the identification of chromosomal aberrations in a large cohort of 527 Indonesians with intellectual disability(ID). In this previous study,87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. The testing was also conducted in the five previously identified samples to confirm the abnormality. In total, a molecular study was conducted in 445 samples(162 females and 283 males).RESULTS: In the cohort of Indonesian ID population, the prevalence of FXS is 9/527(1.7%). The prevalence in males and females is 1.5%(5/329) and 2%(4/198), respectively. Segregation analysis in the families and X-inactivation studies were performed. We performed the first comprehensive genetic survey of a representative sample of male and female ID individuals from institutions and special schools in Indonesia. Our findings show that a comprehensive study of FXS can be performed in a developing country like Indonesia where diagnostic facilities are limited.CONCLUSION: The prevalence of FXS is equal in females and males in our study, which suggests that the prevalence of FXS in females could be underestimated. 展开更多
关键词 fragile x syndrome INTELLECTUAL DISABILITY fragile x mental retardation 1 CGG REPEAT Indonesia
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Expression changes of microtubule associated protein 1B in the brain of Fmr1 knockout mice 被引量:2
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作者 韦朝霞 易咏红 +4 位作者 孙卫文 王蓉 苏涛 白永杰 廖卫平 《Neuroscience Bulletin》 SCIE CAS CSCD 2007年第4期203-208,共6页
Objective To explore the regulatory effect of fragile X mental retardation protein (FMRP) on the translation of microtubule associated protein 1B (MAP1B). Methods The expressions of MAP1B protein and MAP1B mRNA in... Objective To explore the regulatory effect of fragile X mental retardation protein (FMRP) on the translation of microtubule associated protein 1B (MAP1B). Methods The expressions of MAP1B protein and MAP1B mRNA in the brains of 1-week and 6-week old fragile X mental retardation-1 (FmrI) knockout (KO) mice were investigated by immunohistochemistry, Western blot, and in situ hybridization, with the age-matched wild type mice (WT) as controls. Results The mean optical density (MOD) of MAP1B was significantly decreased in each brain region in KO6W compared with WT6W, whereas in KO1W, this decrease was only found in the hippocampus and cerebellum. MAP1B in 6-week mice was much less than that in 1-week mice of the same genotype. The results of Western blot and in situ hybridization showed that MAP1B protein and MAP1B mRNA were significantly decreased in the hippocampus of both KO1W and KO6W. Conclusion The decreased MAP1B protein and MAP1B mRNA in the Fmrl knockout mice indicate that FMRP may positively regulate the expression of MAP1B. 展开更多
关键词 fragile x syndrome fragile x mental retardation protein microtubule associated protein 1 B MICE
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X染色体上脆性X智力低下基因1敲除模型小鼠针刺长强穴学习记忆及海马CA1区γ-氨基丁酸A型受体α1亚基表达的影响 被引量:4
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作者 吴强 陈丽云 张学君 《中国组织工程研究》 CAS 北大核心 2015年第49期7964-7968,共5页
背景:X染色体上脆性X智力低下基因1敲除小鼠海马区γ-氨基丁酸A型受体α1亚基表达低于野生型小鼠。目的:观察针刺长强穴对X染色体上脆性X智力低下基因1敲除小鼠学习记忆及海马CA1区γ-氨基丁酸A型受体α1亚基表达的影响。方法:采用X染... 背景:X染色体上脆性X智力低下基因1敲除小鼠海马区γ-氨基丁酸A型受体α1亚基表达低于野生型小鼠。目的:观察针刺长强穴对X染色体上脆性X智力低下基因1敲除小鼠学习记忆及海马CA1区γ-氨基丁酸A型受体α1亚基表达的影响。方法:采用X染色体上脆性X智力低下基因1敲除纯合子小鼠雌雄各5只,一雌一雄合笼饲养。所繁殖幼鼠经基因型鉴定为X染色体上脆性X智力低下基因1敲除纯合子小鼠者,随机分为模型组、长强组、非穴组,各10只,另取野生型小鼠10只作为空白组。长强组小鼠采用平补平泻,行提插手法针刺长强穴1 min,频率160-200次/min,1次/d,连续治疗10 d;非穴组刺激小鼠右肋弓最低点上1 cm处;模型组及空白组每日只进行模拟抓取。结果与结论:与空白组相比,模型组小鼠水迷宫逃避潜伏期明显延长(P<0.05);而与模型组相比,长强组小鼠水迷宫逃避潜伏期明显缩短(P<0.05),海马CA1区γ-氨基丁酸A型受体α1亚基表达率增加(P<0.05);而非穴组小鼠水迷宫逃避潜伏期及海马CA1区γ-氨基丁酸A型受体α1亚基表达率与模型组接近(P>0.05)。且针刺X染色体上脆性X智力低下基因1敲除小鼠长强穴后其海马CA1区γ-氨基丁酸A型受体α1亚基阳性细胞率与逃避潜伏期呈负相关(r=-0.554,P=0.001)。提示针刺长强穴可改善X染色体上脆性X智力低下基因1敲除小鼠的学习记忆能力,上调γ-氨基丁酸A型受体α1亚基在海马CA1区的表达。 展开更多
关键词 脆性x综合征 脆性x智力低下蛋白质 针刺穴位 小鼠 转基因 组织工程 实验动物模型 脑及脊髓损伤动物模型 长强穴 针刺 学习记忆能力 γ-氨基丁酸A型受体α1亚基 国家自然科学基金
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联合IDH1、1p/19q和ATRX对胶质瘤分子分型的临床意义 被引量:3
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作者 朱文标 卢善明 +4 位作者 李海南 罗文娟 肖焕钦 谢寿城 刘晋发 《南昌大学学报(医学版)》 CAS 2020年第4期41-45,共5页
目的探讨联合异柠檬酸脱氢酶1(IDH1)、1号染色体短臂和19号染色体长臂(1p/19q)和α-地中海贫血/智力低下综合征X染色体连锁基因(ATRX)对胶质瘤分子分型的临床意义。方法回顾经术后病理证实的104例胶质瘤患者的临床及组织病理资料,采用... 目的探讨联合异柠檬酸脱氢酶1(IDH1)、1号染色体短臂和19号染色体长臂(1p/19q)和α-地中海贫血/智力低下综合征X染色体连锁基因(ATRX)对胶质瘤分子分型的临床意义。方法回顾经术后病理证实的104例胶质瘤患者的临床及组织病理资料,采用免疫组织化学法对其存档病理组织蜡块进行IDH1突变、ATRX表达缺失检测,采用荧光原位杂交法检测1p/19q缺失情况,通过门诊复查和电话等方式随访患者的术后生存情况,联合IDH1、1p/19q和ATRX将胶质瘤患者进行分子分型(A型:IDH1突变,1p/19q缺失;B型:IDH1突变,1p/19q完整;C型:IDH1野生,ATRX突变;D型:IDH1野生,ATRX野生),并分析不同分子分型患者临床病理特征及预后间的差异。结果联合分子分型与胶质瘤患者的年龄、组织学分级、卡氏功能状态(KPS)评分与病理分型均有关(P<0.05),其中与病理学分型的相关性最大,而与性别、肿瘤部位和肿瘤大小无关(P>0.05)。Kaplan-Meier生存分析结果显示,4组分子分型的胶质瘤患者术后总生存期差异显著(Log-Rank:χ2=31.631,P<0.001),其中B型患者的中位生存期最长,D型患者中位生存期最短。COX风险回归分析显示,胶质瘤患者的预后与患者年龄、组织学分级、KPS评分、病理分型、IDH1、ATRX、联合分子分型和治疗方案均独立相关(P<0.05),而与患者性别、肿瘤部位、大小和1p/19q缺失无关(P>0.05)。结论联合IDH1突变、1p/19q杂合缺失和ATRX突变对胶质瘤患者进行分子分型,有助于临床诊断,还可能为患者术后生存情况提供参考。 展开更多
关键词 胶质瘤 异柠檬酸脱氢酶1 1号染色体短臂和19号染色体长臂缺失 α-地中海贫血/智力低下综合征x染色体连锁基因
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Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency
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作者 Qing Chen Qi-Qi Wang +3 位作者 Bao-Zhu Cai Xiao-Jun Ren Feng Zhang Xiao-Jin Zhang 《Reproductive and Developmental Medicine》 CSCD 2017年第1期9-12,共4页
Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1(FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency(POI) using a rapid and cost-effec... Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1(FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency(POI) using a rapid and cost-effective method. Methods: A total of 153 Han Chinese women with sporadic POI were systematically analyzed for trinucleotide repeats within the FMR1 gene. We employed an improved strategy to screen for cytosine-guanine-guanine repeats in the 5’ untranslated region of the FMR1 gene. Before using the previously reported Fragil Ease polymerase chain reaction(PCR) method for premutation identification, we developed a new cost-effective PCR-based method to exclude most of the normal allele carriers during the initial screening stage. Results: In our initial screening, 62.1% of women with POI were found to carry heterozygous normal alleles of FMR1, which were recognized by our sensitive and cost-effective method. The remaining women were further screened for the presence of the FMR1 premutation. We identified a Han Chinese woman with a premutation allele of FMR1 out of 153 sporadic POI women(0.7%). Conclusions: The frequent FMR1 premutation in Caucasian individuals with POI may not be a common genetic cause of sporadic POI in the Han Chinese population. 展开更多
关键词 Cytosine-guanine-guanine Repeats fragile x mental retardation 1 Premutation Polymerase Chain Reaction Primary Ovarian Insufficiency
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脆性X精神发育迟缓基因1(FMR1)真核表达载体的构建及其应用 被引量:2
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作者 杨文静 富显果 +2 位作者 廖娟 郭小艳 兰风华 《细胞与分子免疫学杂志》 CAS CSCD 北大核心 2016年第11期1513-1516,共4页
目的构建人脆性X精神发育迟缓基因1(FMR1)真核表达载体,建立稳定转染FMR1的He La细胞系。方法采用PCR扩增出人FMR1的c DNA编码区序列,利用DNA重组技术将其定向插入p EGFP-N2真核表达载体中,并对重组质粒进行双酶切及DNA测序鉴定。用脂... 目的构建人脆性X精神发育迟缓基因1(FMR1)真核表达载体,建立稳定转染FMR1的He La细胞系。方法采用PCR扩增出人FMR1的c DNA编码区序列,利用DNA重组技术将其定向插入p EGFP-N2真核表达载体中,并对重组质粒进行双酶切及DNA测序鉴定。用脂质体将验证的重组质粒转染至He La细胞,通过G418筛选建立FMR1稳定转染的He La细胞系。进一步运用Western blot法、免疫荧光染色结合激光扫描共聚焦显微镜技术鉴定FMR蛋白(FMRP)在He La细胞中的表达及定位。结果双酶切和DNA测序结果表明p EGFP-N2-FMR1真核表达质粒构建成功。Western blot和激光共聚焦显微镜结果显示GFP-FMRP融合蛋白在He La细胞中成功表达且主要定位在细胞质。结论成功建立FMR1稳定转染的He La细胞系并可以表达FMRP。 展开更多
关键词 脆性x精神发育迟缓基因1(FMR1) 真核表达 He La细胞 免疫荧光技术
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FMR1基因在脆性X综合征诊断及治疗中的应用进展 被引量:1
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作者 廖缘 曾晓玲 杨婧 《医学综述》 CAS 2022年第12期2476-2481,共6页
脆性X综合征(FXS)除表现为语言发育不良和癫痫发作外,患者还可能出现严重的行为改变,包括多动、冲动和焦虑等。FXS是一种三核苷酸重复障碍,其中脆性X智力障碍1(FMR1)基因超过200个CGG基序重复会导致基因沉默,并导致其产物脆性X智力低下... 脆性X综合征(FXS)除表现为语言发育不良和癫痫发作外,患者还可能出现严重的行为改变,包括多动、冲动和焦虑等。FXS是一种三核苷酸重复障碍,其中脆性X智力障碍1(FMR1)基因超过200个CGG基序重复会导致基因沉默,并导致其产物脆性X智力低下蛋白丢失。针对FXS的发病机制如激活FMR1基因表达、非编码RNA以及病毒载体介导的FXS基因治疗被认为是具有研究潜力的病因学治疗方法,但尚处于研究阶段。针对高危人群进行产前诊断及筛查是减少FXS患儿出生的有效方法。在未来的研究中,针对FMR1基因进行早期诊断和治疗将会是FXS研究的主要方向。 展开更多
关键词 脆性x综合征 脆性x智力障碍1基因 脆性x智力低下蛋白
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卵巢功能早衰与脆性X智力低下1基因的关系 被引量:1
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作者 叶玉琴 吴洁 《生殖医学杂志》 CAS 2013年第7期551-554,共4页
卵巢早衰(POF)是指女性在40岁以前卵巢功能丧失并伴有卵泡刺激素水平升高(FSH>40IU/L)和/或雌激素水平下降的一种生殖内分泌疾病,其病因涉及环境因素、遗传背景、自身免疫、代谢,以及医源性因素等。然而,大多数POF患者的病因仍不清... 卵巢早衰(POF)是指女性在40岁以前卵巢功能丧失并伴有卵泡刺激素水平升高(FSH>40IU/L)和/或雌激素水平下降的一种生殖内分泌疾病,其病因涉及环境因素、遗传背景、自身免疫、代谢,以及医源性因素等。然而,大多数POF患者的病因仍不清楚。有研究发现X染色体上的脆性X智力低下1(FMR1)基因5'末端非编码区CGG序列重复数增加至前突变(重复数55~200个)与POF的发生存在密切关系。本文将分析FMR1基因的结构和功能,并探讨CGG重复序列数目与POF发生的潜在相关关系。 展开更多
关键词 卵巢早衰 脆性x智力低下1基因 生殖健康
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卵巢早衰与脆性X智力障碍基因1CGG异常重复扩增相关性的研究进展 被引量:2
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作者 董艳 《实用临床医药杂志》 CAS 2021年第4期121-124,共4页
脆性X综合征(FXS)常表现为遗传性智力障碍和自闭症等多系统疾病。脆性X智力障碍基因1(FMR1)为卵巢早衰(POF)发病相关的重要遗传学因素。患POF的女性仍有一定受孕概率,且FMR1基因CGG重复异常的携带者可能性较高,导致其生殖功能改变和不... 脆性X综合征(FXS)常表现为遗传性智力障碍和自闭症等多系统疾病。脆性X智力障碍基因1(FMR1)为卵巢早衰(POF)发病相关的重要遗传学因素。患POF的女性仍有一定受孕概率,且FMR1基因CGG重复异常的携带者可能性较高,导致其生殖功能改变和不明原因复发性流产发生率增高。本文对POF与FMR1基因CGG异常重复相关研究进行综述,以期为遗传咨询和生育指导提供理论基础,进而降低生育缺陷。 展开更多
关键词 卵巢早衰 脆性x智力障碍基因1 重复序列 出生缺陷
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Fragile X mental retardation protein interacts with TDG
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作者 Bardoni B MandelJ.-L 《Chinese Science Bulletin》 SCIE EI CAS 2000年第6期516-520,共5页
Fragiie X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease gene FMR1. To study the function of the fragiie X mental retardation protein (FMRP... Fragiie X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease gene FMR1. To study the function of the fragiie X mental retardation protein (FMRP) through protein/protein interaction, a mouse embryo cDNA library was screened by the yeast two-hybrid system. A clone was found to interact specifically with FMRP. The cDNA of this clone ( Genbank accession number af102875 ) encoded a protein highly homologous to human G/T mismatch-specific DNA thymine glycosylase ( hTDG ). Interactions between various alternatively spliced FMRP isoforms and a series of mTDG deletion proteins were further studied in the yeast two-hybrid system and their interaction amino acid regions were determined. interaction between FMRP and TDG existed inside exon 13 of FMRP ( amino acid residue 397-425 ) and around amino acid residue 122-346 of TDG. These results will be helpful to the study of the biological role of FMRP. 展开更多
关键词 fragile x mental retardation protein G/T mismatch-specific DNA THYMINE GLYCOSYLASE yeast TWO-HYBRID protein/protein interaction.
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Bidirectional regulation of fragile X mental retardation protein phosphorylation controls rhodopsin hornoeostasis
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作者 Xiao Wang Yawen Mu +1 位作者 Mengshi Sun Junhai Han 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2017年第2期104-116,共13页
Homoeostatic regulation of the light sensor, rhodopsin, is critical for the maintenance of light sensitivity and survival of photore- ceptors. The major fly rhodopsin, Rhl, undergoes light-induced endocytosis and degr... Homoeostatic regulation of the light sensor, rhodopsin, is critical for the maintenance of light sensitivity and survival of photore- ceptors. The major fly rhodopsin, Rhl, undergoes light-induced endocytosis and degradation, but its protein and mRNA levels remain constant during light/dark cycles. It is not clear how translation of Rhl is regulated. Here, we show that adult photorecep- tors maintain a constant, abundant quantity of ninaE mRNA, which encodes Rhl. We demonstrate that the Fmrl protein associ- ates with ninaE mRNA and represses its translation. Further, light exposure triggers a calcium-dependent dephosphorylation of Fmrl, which relieves suppression of Rhl translation. We demonstrate that Mts, the catalytic subunit of protein phosphatase 2A (PP2A), mediates light-induced Fmrl dephosphorylation in a regulatory B subunit of PP2A (CKa)-dependent manner. Finally, we show that blocking light-induced Rhl translation results in reduced light sensitivity. Our results reveal the molecular mechanism of Rhl homoeostasis and physiological consequence of Rhl dysregulation. 展开更多
关键词 G protein-coupled receptor RHODOPSIN fragile x mental retardation protein DEPHOSPHORYLATION CALCIUM protein phosphatase 2A
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SUMOylation of Fragile X Mental Retardation Protein: A Critical Mechanism of FMRP-Mediated Neuronal Function
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作者 Mingzhu Tang Liqun Lu +1 位作者 Feng Xie Linxi Chen 《Neuroscience Bulletin》 SCIE CAS CSCD 2018年第6期1100-1102,共3页
Recently, Khayachi et al.;showed that fragile X mental retardation protein (FMRP) is an active substrate of the small ubiquitin-like modifier (SUMO) pathway in neurons.FMRP SUMOylation is induced by the activation... Recently, Khayachi et al.;showed that fragile X mental retardation protein (FMRP) is an active substrate of the small ubiquitin-like modifier (SUMO) pathway in neurons.FMRP SUMOylation is induced by the activation of metabotropic glutamate receptors (mGlu5Rs). FMRP 展开更多
关键词 FxS AD In SUMOylation of fragile x mental retardation Protein
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Atypical neurological symptoms associated with CGG expansions of the FMR1 gene
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作者 Esteban Pea Marcos Llanero 《World Journal of Neurology》 2013年第4期148-151,共4页
More than 40 CGG expansions in the 5' noncoding region of the fragile X mental retardation 1(FMR1)gene of the X chromosome give rise to several distinct clinical phenotypes, depending on the size of the expansion.... More than 40 CGG expansions in the 5' noncoding region of the fragile X mental retardation 1(FMR1)gene of the X chromosome give rise to several distinct clinical phenotypes, depending on the size of the expansion. First, more than 200 CGG expansions(full mutation) cause an inherited mental retardation called fragile X syndrome. Second, CGG expansions between55 and 199(premutation) cause a disorder called fragile X-associated tremor/ataxia syndrome(FXTAS) which typically includes intention tremor, ataxia and specific magnetic resonance imaging(MRI) findings. Indeed, it could develop parkinsonism although it usually shows features of postsynaptic parkinsonism. Finally, CGG expansions between 41 and 54 CGG(gray zone) are not consider normal but rarely develops abnormal neurological conditions. In this sense, the aim of this study is to report two atypical cases associated with CGG expansions of the FMR1 gene. First, a FMR1 premutation alleles carrier with an unusual phenotype, such as a presynaptic parkinsonism indistinguishable from Parkinson disease(PD) and a FMR1 gray zone alleles carrier presented with neurological features, namely hand tremor, parkinsonism and ataxia, usually described in FXTAS, as well as orthostatic tremor. We conclude that,on the one hand, FMR1 premutation alleles might cause two phenotypes of parkinsonism, such as a presynaptic phenotype, indistinguishable from PD, and a postsynaptic phenotype, associated with clinical features of FXTAS. On the other hand, although FMR1 gray zone alleles carriers were believed to have no abnormal neurological conditions, our study supports that they could develop FXTAS and other neurological disorders such as orthostatic tremor which has not been reported before associated with the FMR1 gene. 展开更多
关键词 fragile x-associated tremor/ataxia syndrome fragile x mental retardation Gray zone PARKINSONISM ORTHOSTATIC TREMOR
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180例不明原因智力障碍儿童的脆性X综合征检出情况
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作者 钟青燕 熊小波 +5 位作者 曾婷 王大永 吴勇聪 袁德健 蔡稔 严提珍 《广西医学》 CAS 2022年第19期2231-2235,共5页
目的通过检测脆性X智力低下1(FMR1)基因突变情况,分析不明原因智力障碍儿童的脆性X综合征(FXS)检出情况。方法纳入180例不明原因智力障碍儿童,采用PCR微流控毛细管电泳技术对其及部分FMR1基因突变患儿家系成员进行FMR1基因突变分析,并采... 目的通过检测脆性X智力低下1(FMR1)基因突变情况,分析不明原因智力障碍儿童的脆性X综合征(FXS)检出情况。方法纳入180例不明原因智力障碍儿童,采用PCR微流控毛细管电泳技术对其及部分FMR1基因突变患儿家系成员进行FMR1基因突变分析,并采用Southern印迹杂交法进行验证。结果在180例智力障碍儿童中,共检出FMR1基因全突变型4例、中间型1例、正常型175例,FXS的检出率为2.22%(4/180);正常型最常见的CGG重复次数是28次和29次。4例全突变型病例中,家系1先证者CGG重复数为190/248/370次,母亲为25次和134次,妹妹为39次和148/218/554次,姨妈为29次和29次;家系2先证者CGG重复次数为859次;家系3先证者CGG重复次数为529次,母亲为31次和76次,姐姐为29次和130次;家系4先证者CGG重复次数为525次。4例FMR1基因全突变型病例样本经Southern印迹杂交法验证,结果都显示有>5.8 kb条带(全突变条带),两种方法基因分型结果完全一致。结论在不明原因智力障碍儿童中存在一定比例的FXS患儿。PCR微流控毛细管电泳技术高效、快速,适合用于智力障碍人群FXS大规模筛查,有助于避免该病患儿的出生。 展开更多
关键词 脆性x综合征 脆性x智力低下1基因 智力障碍 基因检测 PCR微流控毛细管电泳技术
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FMR1基因CGG重复序列多态性与不明原因早期自然流产的相关性研究 被引量:17
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作者 冯旺琴 陈素文 +1 位作者 武淑英 陈雁鸣 《生殖医学杂志》 CAS 2019年第1期12-17,共6页
目的探讨脆性X智力障碍基因1(FMR1)基因CGG重复序列与不明原因早期自然流产发病机制的相关性。方法收集2015年5月1日至2018年4月1日在北京妇产医院计划生育科就诊的难免流产或需行清宫操作的2 000例患者为自然流产组;同期在北京妇产医... 目的探讨脆性X智力障碍基因1(FMR1)基因CGG重复序列与不明原因早期自然流产发病机制的相关性。方法收集2015年5月1日至2018年4月1日在北京妇产医院计划生育科就诊的难免流产或需行清宫操作的2 000例患者为自然流产组;同期在北京妇产医院产科就诊的1 480例顺利分娩女性为对照组。两组患者均于孕早期或孕中期抽取外周血,提取基因组DNA,应用FMR1基因Amplide X检测技术进行FMR1基因CGG重复序列数检测。比较两组CGG重复序列情况并加以分析。结果 (1)所有对象的FMR1基因检测未检出全突变病例;自然流产组中CGG重复最大频率等位基因n=30(32.95%),其后依次是29(31.15%)、36(15.60%)、31(5.85%);对照组CGG重复最大频率等位基因为n=30(33.24%),其后依次为29(25.47%)、36(14.73%)、31(8.38%)。自然流产组及对照组CGG重复位点均数比较无显著性差异[(29.33±5.19)vs.(28.73±6.37)](P>0.05)。(2)自然流产组FMR1基因中间型携带率为1∶222,对照组1∶247,组间比较无显著性差异(P>0.05)。自然流产组的脆性X综合征前突变携带频率(1∶400)显著高于对照组(1∶740)(P<0.05)。结论 FMR1基因CGG重复序列前突变与不明原因早期自然流产可能存在相关性。 展开更多
关键词 FMR1基因 脆性x综合征 CGG重复序列多态性 自然流产
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智力低下和孤独症男童脆性X基因突变的研究 被引量:3
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作者 王三梅 李明 +3 位作者 潘虹 杨艳玲 王静敏 卜定方 《临床儿科杂志》 CAS CSCD 北大核心 2006年第12期959-961,共3页
目的应用改良基因检测方法,探讨脆性X综合征致病基因(fragileXmentalretardation"1,FMR1)在中国人群智力低下和孤独症中的作用。方法收集2002~2006年小儿神经、遗传代谢门诊诊断的男性孤独症患儿44例、非家族性智力低下男性患儿40... 目的应用改良基因检测方法,探讨脆性X综合征致病基因(fragileXmentalretardation"1,FMR1)在中国人群智力低下和孤独症中的作用。方法收集2002~2006年小儿神经、遗传代谢门诊诊断的男性孤独症患儿44例、非家族性智力低下男性患儿40例,建立适用于男性的FMR1基因突变检查方法,对检查阳性者以pfxa3探针进行Southern杂交。结果在44例孤独症患儿中,发现1例pfxa3杂交片段约0.2kb,为FMR1前突变;40例智力低下患者中FMR1基因未见异常。结论在孤独症人群中发现的1例FMR1基因前突变,其致病意义有待进一步阐明。 展开更多
关键词 脆性x综合征 智力低下 孤独症 脆性x综合征致病基因 男性
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孤独症儿童脆性位点精神发育迟滞1基因检测 被引量:5
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作者 周家秀 郭兰婷 +6 位作者 王英成 季卫东 吴康敏 张芳蓉 黄晓琦 郭田友 杨闯 《实用儿科临床杂志》 CAS CSCD 北大核心 2006年第20期1415-1416,共2页
目的对孤独症儿童进行脆性位点精神发育迟滞1(FMR-1)基因检测,探讨儿童孤独症与FMR-1基因的关系。方法孤独症患儿75例。用一般情况调查表进行调查,以儿童孤独症评定量表、孤独症行为检查量表筛查可疑患儿,按照中国精神障碍分类与诊断标... 目的对孤独症儿童进行脆性位点精神发育迟滞1(FMR-1)基因检测,探讨儿童孤独症与FMR-1基因的关系。方法孤独症患儿75例。用一般情况调查表进行调查,以儿童孤独症评定量表、孤独症行为检查量表筛查可疑患儿,按照中国精神障碍分类与诊断标准第3版(CCMD-3)的儿童孤独症诊断标准进行诊断和FMR-1基因检测。结果孤独症患儿FMR-1基因异常率极低,仅1.3%。结论儿童孤独症遗传学发病机制可能与FMR-1基因无关。 展开更多
关键词 孤独症 儿童 聚合酶链式反应 基因 脆性位点精神发育迟滞1
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