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肌营养不良蛋白基因外显子53多态性的检测

Detection of an exon 53 polymorphism in the dystrophin gene.

作者信息

Prior T W, Papp A C, Snyder P J, Sedra M S

机构信息

Department of Pathology, Ohio State University, Columbus 43210.

出版信息

Hum Genet. 1993 Oct 1;92(3):302-4. doi: 10.1007/BF00244477.

DOI:10.1007/BF00244477
PMID:8104863
Abstract

We utilized a heteroduplex method to screen for small mutations in Duchenne muscular dystrophy patients who did not have deletions or duplications. A dystrophin exon 53 heteroduplex band was identified in 14.4% of the affected patients. Direct sequencing of the amplified product from DNA producing the heteroduplex revealed the presence of a polymorphism in the coding region. The codon for asparagine was converted from AAT to AAC.

摘要

我们采用异源双链法对无缺失或重复的杜氏肌营养不良症患者进行小突变筛查。在14.4%的受影响患者中鉴定出肌营养不良蛋白外显子53异源双链带。对产生异源双链的DNA扩增产物进行直接测序，结果显示编码区存在多态性。天冬酰胺密码子由AAT转换为AAC。

相似文献

1
Detection of an exon 53 polymorphism in the dystrophin gene.肌营养不良蛋白基因外显子53多态性的检测
Hum Genet. 1993 Oct 1;92(3):302-4. doi: 10.1007/BF00244477.
2
Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection.
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3
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A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.一名杜氏肌营养不良症患者肌营养不良蛋白基因中的错义突变。
Nat Genet. 1993 Aug;4(4):357-60. doi: 10.1038/ng0893-357.
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A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis.通过异源双链分析检测到人类肌营养不良蛋白基因第17外显子中的一个无义突变（Gln-673-Term）。
Hum Genet. 1995 Sep;96(3):343-4. doi: 10.1007/BF00210420.
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Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts.通过异源双链分析和对异常转录本的限制性逆转录-聚合酶链反应异源双链分析，在人类抗肌萎缩蛋白基因中检测到七个新的额外小突变和一种新的可变剪接。
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引用本文的文献

1
Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.杜兴/贝克型肌营养不良基因中的微损伤与多态性
Hum Genet. 1994 Aug;94(2):111-6. doi: 10.1007/BF00202854.

本文引用的文献

1
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.
Hum Mol Genet. 1993 Mar;2(3):311-3. doi: 10.1093/hmg/2.3.311.
2
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.杜兴氏肌营养不良症（DMD）cDNA的完整克隆以及正常个体和患病个体中DMD基因的初步基因组结构
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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.通过多重DNA扩增对杜氏肌营养不良基因座进行缺失筛查。
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Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.用肌营养不良蛋白cDNA研究的21个杜氏肌营养不良症（DMD）/贝克肌营养不良症（BMD）家系中的基因内缺失：断裂点在含HindIII和BglII外显子片段图谱上的定位、突变的减数分裂和有丝分裂起源。
Am J Hum Genet. 1988 Nov;43(5):620-9.
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Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.杜兴肌营养不良症（DMD）基因富含缺失区域内存在缺失的患者的分子与表型分析。
Am J Hum Genet. 1989 Oct;45(4):507-20.
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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.杜兴氏肌营养不良基因座的重复突变：其频率、分布、起源及表型-基因型相关性
Am J Hum Genet. 1990 Apr;46(4):682-95.
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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.通过聚合酶链反应检测98%的杜氏肌营养不良症/贝克型肌营养不良症基因缺失。
Hum Genet. 1990 Nov;86(1):45-8. doi: 10.1007/BF00205170.
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Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.杜兴氏肌营养不良基因内基因重组频率的准确评估。
Genomics. 1990 Aug;7(4):602-6. doi: 10.1016/0888-7543(90)90205-9.
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Detecting single base substitutions as heteroduplex polymorphisms.将单碱基替换检测为异源双链多态性。
Genomics. 1992 Feb;12(2):301-6. doi: 10.1016/0888-7543(92)90377-5.
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Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.
Hum Genet. 1992 May;89(3):253-8. doi: 10.1007/BF00220535.