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杜兴氏肌肉营养不良症患者中缺失的保守序列的分离。

Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.

作者信息

Smith T J, Wilson L, Kenwrick S J, Forrest S M, Speer A, Coutelle C, Davies K E

出版信息

Nucleic Acids Res. 1987 Mar 11;15(5):2167-74. doi: 10.1093/nar/15.5.2167.

DOI:10.1093/nar/15.5.2167
PMID:3562224
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC340624/
Abstract

We have isolated a DNA sequence (HIP25) by subtraction- hybridisation which is deleted in a number of Duchenne muscular dystrophy (DMD) patients. HIP25 is conserved in evolution and hybridises to human fetal and adult muscle mRNA. HIP25 is absent in human fetal fibroblast mRNA. Physical mapping data localise this sequence within Xp21 between the breakpoints of X;autosome translocations found in two females suffering from the disease. HIP25 is a candidate exon sequence for the basic defect in DMD boys deleted at this locus.

摘要

我们通过消减杂交分离出一个DNA序列（HIP25），该序列在许多杜兴氏肌营养不良症（DMD）患者中缺失。HIP25在进化过程中保守，并且能与人胎儿及成人肌肉的mRNA杂交。人胎儿成纤维细胞mRNA中不存在HIP25。物理图谱数据将该序列定位在Xp21中，位于两名患该疾病女性患者中发现的X；常染色体易位断点之间。HIP25是在此位点缺失的DMD男孩基本缺陷的候选外显子序列。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/1e142afa553c/nar00249-0291-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/8aaa02d1eca6/nar00249-0289-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/3b4eece06ed3/nar00249-0290-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/7f9d1def30b7/nar00249-0290-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/1e142afa553c/nar00249-0291-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/8aaa02d1eca6/nar00249-0289-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/3b4eece06ed3/nar00249-0290-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/7f9d1def30b7/nar00249-0290-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76c6/340624/1e142afa553c/nar00249-0291-a.jpg

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1
Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.杜兴氏肌肉营养不良症患者中缺失的保守序列的分离。
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2
Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.Xp21区域内12个易位断点相对于杜兴氏肌营养不良症基因座的定位。
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Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.一名患有X/常染色体易位的女性的杜氏肌营养不良症（DMD）：进一步证明DMD基因座位于Xp21。
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引用本文的文献

1
Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes.犬类杜氏肌营养不良症模型中删除所有抗肌萎缩蛋白外显子的机制表明X染色体假基因的协同进化。
Mol Ther Methods Clin Dev. 2016 Dec 24;4:62-71. doi: 10.1016/j.omtm.2016.12.001. eCollection 2017 Mar 17.
2
Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.杜兴氏和贝克氏肌营养不良症突变：使用来自该基因5'端的2.6 kb肌肉cDNA进行分析。
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3
Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients.

本文引用的文献

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An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.一名患有杜氏肌营养不良症女孩的(X;11)易位。储存库识别号GM1695。
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Y-encoded, species-specific DNA in mice: evidence that the Y chromosome exists in two polymorphic forms in inbred strains.小鼠中Y编码的物种特异性DNA：近交系中Y染色体以两种多态形式存在的证据。
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杜兴氏和贝克氏肌肉萎缩症患者中胎儿及成人肌肉cDNA的缺失
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Molecular analysis and diagnosis of Duchenne muscular dystrophy.杜氏肌营养不良症的分子分析与诊断
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Molecular analysis of muscular dystrophy.
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Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.与人类X染色体Xp21缺失相关的轻度和重度肌肉萎缩症。
J Med Genet. 1988 Jan;25(1):9-13. doi: 10.1136/jmg.25.1.9.
7
On the nature of the Duchenne muscular dystrophy locus: a portion of a complex of related gene clusters of recent pseudoautosomal origin?关于杜兴氏肌营养不良基因座的性质：它是近期假常染色体起源的相关基因簇复合体的一部分吗？
Mol Cell Biochem. 1988 Jun;81(2):103-19. doi: 10.1007/BF00219313.
8
Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes.使用互补DNA探针进行杜氏和贝克型肌营养不良症产前诊断及携带者检测的可能性与局限性
J Med Genet. 1989 Jan;26(1):1-5. doi: 10.1136/jmg.26.1.1.
9
A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region.杜兴氏肌营养不良基因中一段230kb的黏粒步移：保守序列及一个可能的易缺失区域的检测
Nucleic Acids Res. 1987 Nov 25;15(22):9129-42. doi: 10.1093/nar/15.22.9129.
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Deletion screening in patients with Duchenne muscular dystrophy.杜氏肌营养不良症患者的缺失筛查
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杜氏肌营养不良症：发病机制及基因预防
Hum Genet. 1984;66(1):17-40. doi: 10.1007/BF00275183.
4
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.构建完整的人类X染色体连锁图谱：利用一组体细胞杂种对16个克隆的单拷贝DNA序列进行区域定位。
Am J Hum Genet. 1984 Mar;36(2):265-76.
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Interferon inhibits transformation by murine sarcoma viruses before integration of provirus.在原病毒整合之前，干扰素可抑制鼠肉瘤病毒的转化作用。
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Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.
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Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.X和Y染色体遗传构成委员会报告
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10
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Nature. 1985;318(6047):672-5. doi: 10.1038/318672a0.