| 进行性骨化性纤维增殖不良症临床及基因突变分析 |
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| 引用本文： | 张伟,潘懿,朱晓晓,张克勤.进行性骨化性纤维增殖不良症临床及基因突变分析[J].现代生物医学进展,2011,11(4). |
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| 作者姓名： | 张伟 潘懿 朱晓晓 张克勤 |
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| 作者单位： | 南京医科大学第一附属医院,江苏,南京,210029 |
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| 基金项目： | 院引进人才基金(NO.NA05) |
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| 摘 要： | 目的:研究一例具有超经典型临床特征的FOP患者,并对其ACVR1/ALK2基因进行分析。方法:根据患者的大踇趾畸形和进行性异位骨化等表现进行临床诊断,确诊为FOP。经患者及家属同意,采集患者、父母外周血,提取DNA,通过PCR扩增并直接测序测定ACVR1基因全部外显子序列,以此来确定突变位点。结果:患者具有超经典型FOP的临床表现:先天性大踇趾畸形,先天性双手拇指、食指远端关节僵直和进行性异位骨化,父母无FOP的相关临床表现。基因测序分析示该患者在ACVR1第七外显子发现存在c.1067G>A(p.G356D)杂合错义突变,而其父母无此杂合突变。结论:该患者在ACVR1的c.1067G>A(p.G356D)发生杂合错义突变,这有助于我们更好地理解认识中国FOP患者的临床表现和发病机制。
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| 关 键 词： | 进行性骨化性纤维増殖不良症 骨形态发生蛋白 异位骨化 突变 |
Novel Mutation G356D in ACVR 1 in Fibrodysplasia Ossificans Progressive:Analysis of one case |
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| ZHANG Wei,PAN Yi,ZHU Xiao-xiao,ZHANG Ke-qin.Novel Mutation G356D in ACVR 1 in Fibrodysplasia Ossificans Progressive:Analysis of one case[J].Progress in Modern Biomedicine,2011,11(4). |
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| Authors: | ZHANG Wei PAN Yi ZHU Xiao-xiao ZHANG Ke-qin |
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| Affiliation: | ZHANG Wei,PAN Yi,ZHU Xiao-xiao,ZHANG Ke-qin(Department of Endocrinology and Osteoporosis Center,The First Affiliated Hospital of Nanjing Medical University.Guangzhou Road No.300,Gulou District,Nanjing 210029,China) |
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| Abstract: | Objective:To investigate the ACVR2/ALK2 gene of one FOP patient.Methods:Clinical diagnosis was based on clini-cal and radiological findings.For mutation detection,the blood samples from the FOP patient and his parents were collected with in-formed consent.Genomic DNA was isolated from peripheral lymphocytes and all the exons of ACVR1 were amplified by PCR.The PCR products were sequenced.Results:The patient had congenital malformations of the great toes and congenital ankylosis of the thumbs and index finger... |
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| Keywords: | Fibrodysplasia ossificans progressive Bone morphogenetic protein Heterotopic ossification Mutation |
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