False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy

Seong-Ho Kang; Sung Im Cho; Jong-Hee ChaeKyu Nam ChungEun Kyung RaSo Yeon KimMoon-Woo SeongJi Yeon KimSung Sup Park

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False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy

机译：假纯合子缺失的SMN1外显子7使用半径标注我PCR-RFLP小说的突变造成的脊髓性肌肉萎缩症

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Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, and about 95% of SMA patients are homozygous for deletions in the SMN1 gene. Herein, classical polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) using DraI yielded false homozygous deletions of SMN1 exon 7 in a patient with SMA, but multiple ligation-dependent probe amplification analysis revealed one remaining copy of SMN1 exon 7. Sequencing showed that this false deletion in the PCR-RFLP resulted from a novel mutation of one SMN1 copy that was not deleted (с.863G > T, p.R288M). This novel sequence variant introduced a mismatch that interfered with primer binding. These findings demonstrate that comprehensive analysis using PCR-RFLP, multiple ligation-dependent probe amplification, and sequencing can reliably and correctly diagnose SMA.

机译：脊髓性肌萎缩(SMA)是一种常染色体隐性的神经肌肉疾病,约95%为纯合子的SMA患者缺失SMN1基因。反应和限制片段长度多态性(PCR-RFLP)使用DraI产生了错误纯合子缺失的SMN1外显子7的病人SMA,但多个ligation-dependent调查放大分析显示一个剩余份SMN1外显子7。错误的删除PCR-RFLP造成的这不是小说突变的SMN1副本删除(с。引入序列变异不匹配干扰引物结合。证明综合分析使用PCR-RFLP,多个ligation-dependent调查扩增,测序可以可靠地正确诊断SMA。

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来源
《Genetic testing and molecular biomarkers》 |2009年第4期|511-513|共3页
作者
Seong-Ho Kang; Sung Im Cho; Jong-Hee ChaeKyu Nam ChungEun Kyung RaSo Yeon KimMoon-Woo SeongJi Yeon KimSung Sup Park;
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作者单位

Department of Pediatrics, Seoul National University Hospital, Seoul, Korea;

Department of Laboratory Medicine, National Cancer Center, Goyang, Korea;

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, KoreaClinical Research Institute, Seoul National University Hospital, Seoul, Korea;

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正文语种英语
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关键词
SMN1 gene; Exons; Novel MutationFalsedeletionsmusclesRestriction Fragment Length Polymorphism;

机译：SMN1基因外显子;小说MutationFalsedeletionsmusclesRestriction片段长度多态性;

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1. Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atrophy type [J] . Wei Wei, Chunyue Chen, Wenting Liu, 中国神经再生研究：英文版 . 2011,第023期
2. Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atrophy type 3 [J] . Wei Wei, Chunyue Chen, Wenting Liu, 中国神经再生研究（英文版） . 2011,第023期
3. False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy [J] . Seong-Ho Kang, Sung Im Choi, Jong-Hee Chae, Genetic Testing . 2009,第4期

机译：SMN1外显子7的假纯合缺失使用Dra I PCR-RFLP引起的脊髓肌萎缩的新型突变。

False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy

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