Suppr超能文献

将微卫星序列定位到1型遗传性运动感觉神经病（CMT1A）重复区域（17p12）：一种有用的诊断工具。

Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.

作者信息

Cudrey C, Chevillard C, Le Paslier D, Vignal A, Passage E, Fontes M

机构信息

INSERM U406, Faculté de Médecine, Marseille, France.

出版信息

J Med Genet. 1995 Mar;32(3):231-3. doi: 10.1136/jmg.32.3.231.

DOI:10.1136/jmg.32.3.231
PMID:7783177
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050325/
Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A), the most prevalent form of the peripheral hereditary neuropathies, has been associated with a duplication of a genomic segment of 1.5 Mb, located in 17p11.2. Recently, the same segment has been found to be deleted in patients with another peripheral neuropathy, hereditary neuropathy with liability to pressure palsies (HNPP). Highly polymorphic markers are rare in this area, rendering the diagnosis highly dependent either on invasive examinations (like nerve biopsy) or not totally reliable (like gene dosage). Thus, we used a contig of YACs, including the whole region duplicated in CMT1A, to map highly polymorphic microsatellite loci, designed in Genethon. We showed that four of these loci are located in the duplicated region, allowing us to propose them as diagnostic markers for CMT1A and HNPP.

摘要

1A型腓骨肌萎缩症（CMT1A）是周围遗传性神经病最常见的类型，与位于17p11.2的一个1.5 Mb基因组片段的重复有关。最近，在另一种周围神经病——遗传性压力易感性麻痹（HNPP）患者中发现该相同片段缺失。该区域高度多态性标记很少，使得诊断高度依赖侵入性检查（如神经活检）或并非完全可靠（如基因剂量分析）。因此，我们使用了一个酵母人工染色体（YAC）重叠群，其包含CMT1A中重复的整个区域，来定位在吉内通公司设计的高度多态性微卫星位点。我们发现其中四个位点位于重复区域，这使我们能够将它们作为CMT1A和HNPP的诊断标记。

相似文献

1
Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.将微卫星序列定位到1型遗传性运动感觉神经病（CMT1A）重复区域（17p12）：一种有用的诊断工具。
J Med Genet. 1995 Mar;32(3):231-3. doi: 10.1136/jmg.32.3.231.
2
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.夏科-马里-图斯病1A型重复序列3.2 kb区域内的重组热点：易患压迫性麻痹的遗传性神经病和夏科-马里-图斯病1A型分子诊断的新工具。法国CMT协作研究小组
Am J Hum Genet. 1996 Jun;58(6):1223-30.
3
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.1A型夏科-马里-图思病（CMT1A）和遗传性压力易感性周围神经病（HNPP）：利用两个多重PCR中的8个微卫星标记可靠检测CMT1A重复和HNPP缺失
Int J Mol Med. 2000 Oct;6(4):421-6. doi: 10.3892/ijmm.6.4.421.
4
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).遗传性压力易感性周围神经病（HNPP）患者17p11.2区域的分子遗传学分析。
Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828.
5
Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.用于1A型遗传性运动感觉神经病和易患压迫性麻痹的遗传性神经病的新型基于聚合酶链反应的诊断工具。
J Peripher Nerv Syst. 1999;4(2):117-22.
6
Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome.夏科-马里-图思病1A型与史密斯-马吉尼斯区域的关系。小核仁RNA U3可能是史密斯-马吉尼斯综合征的候选基因。
Hum Mol Genet. 1993 Aug;2(8):1235-43. doi: 10.1093/hmg/2.8.1235.
7
Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.通过定量CMT1A-REP序列对1A型腓骨肌萎缩症和遗传性压力易感性神经病进行分子诊断：17p11.2-12染色体上变异位点重组的后果
Clin Chem. 1996 Jul;42(7):1021-5.
8
[Molecular genetic diagnosis of Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies].[夏科-马里-图思病及遗传性压迫易感性神经病的分子遗传学诊断]
Tidsskr Nor Laegeforen. 2002 Feb 10;122(4):382-5.
9
Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.
Mol Cells. 2007 Feb 28;23(1):39-48.
10
A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.17号染色体短臂11.2 - p12区域中CMT1A重复/HNPP缺失关键区域的一个1.5兆碱基的黏粒重叠群。
Genomics. 1996 May 15;34(1):128-33. doi: 10.1006/geno.1996.0251.

引用本文的文献

1
A comparison of methods for gene dosage analysis in HMSN type 1.1型遗传性运动感觉神经病基因剂量分析方法的比较
J Med Genet. 2001 Feb;38(2):90-5. doi: 10.1136/jmg.38.2.90.
2
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.夏科-马里-图斯病1A型重复序列3.2 kb区域内的重组热点：易患压迫性麻痹的遗传性神经病和夏科-马里-图斯病1A型分子诊断的新工具。法国CMT协作研究小组
Am J Hum Genet. 1996 Jun;58(6):1223-30.
3
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).遗传性压力易感性周围神经病（HNPP）患者17p11.2区域的分子遗传学分析。
Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828.

本文引用的文献

1
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.与遗传性压力易感性周围神经病相关的DNA缺失。
Cell. 1993 Jan 15;72(1):143-51. doi: 10.1016/0092-8674(93)90058-x.
2
Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome.夏科-马里-图思病1A型与史密斯-马吉尼斯区域的关系。小核仁RNA U3可能是史密斯-马吉尼斯综合征的候选基因。
Hum Mol Genet. 1993 Aug;2(8):1235-43. doi: 10.1093/hmg/2.8.1235.
3
Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.
Hum Mol Genet. 1993 Dec;2(12):2143-6. doi: 10.1093/hmg/2.12.2143.
4
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.1A型遗传性运动感觉神经病中新生重复的起源：精子发生过程中不等的非姐妹染色单体交换。
Hum Mol Genet. 1993 Dec;2(12):2031-5. doi: 10.1093/hmg/2.12.2031.
5
Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.
Hum Mol Genet. 1993 Apr;2(4):405-10. doi: 10.1093/hmg/2.4.405.
6
The 1993-94 Généthon human genetic linkage map.1993 - 1994年热那亚人类遗传连锁图谱。
Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246.
7
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.伴有腓骨肌萎缩的下运动神经元和原发性感觉神经元疾病。I. 遗传性多发性神经病的神经学、遗传学和电生理发现。
Arch Neurol. 1968 Jun;18(6):603-18. doi: 10.1001/archneur.1968.00470360025002.
8
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.
Hum Genet. 1991 Dec;88(2):215-8. doi: 10.1007/BF00206075.
9
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Cell. 1991 Jul 26;66(2):219-32. doi: 10.1016/0092-8674(91)90613-4.
10
A second-generation linkage map of the human genome.人类基因组的第二代连锁图谱。
Nature. 1992 Oct 29;359(6398):794-801. doi: 10.1038/359794a0.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验