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通过全粘粒杂交对杜氏肌营养不良症（DMD）基因进行高分辨率缺失断点定位

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

作者信息

Blonden L A, den Dunnen J T, van Paassen H M, Wapenaar M C, Grootscholten P M, Ginjaar H B, Bakker E, Pearson P L, van Ommen G J

机构信息

Department of Human Genetics, State University of Leiden, The Netherlands.

出版信息

Nucleic Acids Res. 1989 Jul 25;17(14):5611-21. doi: 10.1093/nar/17.14.5611.

DOI:10.1093/nar/17.14.5611
PMID:2569720
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC318183/
Abstract

The locus DXS269 (P20) defines a deletion hotspot in the distal part of the Duchenne Muscular Dystrophy gene. We have cloned over 90 kilobase-pairs of genomic DNA from this region in overlapping cosmids. The use of whole cosmids as probes in a competitive DNA hybridization analysis proves a fast and convenient method for identifying rearrangements in this region. A rapid survey of P20-deletion patients is carried out to elucidate the nature of the propensity to deletions in this region. Using this technique, deletion breakpoints are pinpointed to individual restriction fragments in patient DNAs without the need for tedious isolation of single copy sequences. Simultaneously, the deletion data yield a consistent restriction map of the region and permit detection of several RFLPs. A 176 bp exon was identified within the cloned DNA, located 3' of an intron exceeding 150 Kb in length. Its deletion causes a frameshift in the dystrophin reading frame and produces the DMD phenotype. This exon is one of the most frequently deleted exons in BMD/DMD patients and its sequence is applied in a pilot study for diagnostic deletion screening using Polymerase Chain Reaction amplification.

摘要

DXS269（P20）位点在杜兴氏肌营养不良基因的远端定义了一个缺失热点。我们已从该区域的重叠黏粒中克隆了超过90千碱基对的基因组DNA。在竞争性DNA杂交分析中使用完整的黏粒作为探针，证明是一种快速便捷的方法，可用于鉴定该区域的重排。对P20缺失患者进行了快速调查，以阐明该区域缺失倾向的本质。使用该技术，可将缺失断点定位到患者DNA中的单个限制性片段，而无需繁琐地分离单拷贝序列。同时，缺失数据产生了该区域一致的限制性图谱，并允许检测多个RFLP。在克隆的DNA中鉴定出一个176 bp的外显子，位于一个长度超过150 Kb的内含子的3'端。其缺失导致肌营养不良蛋白阅读框发生移码并产生DMD表型。该外显子是BMD/DMD患者中最常缺失的外显子之一，其序列应用于一项使用聚合酶链反应扩增进行诊断性缺失筛查的初步研究中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/5ec884271ad4/nar00131-0196-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/162ac0529f28/nar00131-0193-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/0a7324f610c6/nar00131-0195-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/f62b9a800c86/nar00131-0195-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/5ec884271ad4/nar00131-0196-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/162ac0529f28/nar00131-0193-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/0a7324f610c6/nar00131-0195-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/f62b9a800c86/nar00131-0195-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/53e9/318183/5ec884271ad4/nar00131-0196-a.jpg

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本文引用的文献

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Double cos site vectors: simplified cosmid cloning.双cos位点载体：简化的黏粒克隆
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Removal of repeated sequences from hybridisation probes.从杂交探针中去除重复序列。
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Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.通过基于检测肌营养不良蛋白基因连接片段的新方法鉴定杜兴氏/贝克氏肌营养不良症携带者。
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The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.贝克型肌营养不良症的临床、遗传及肌营养不良蛋白特征。II. 表型与遗传及蛋白质异常的相关性。
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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.对携带DMD基因座部分缺失的患者之间表型差异的一种解释。
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The use of field-inversion gel electrophoresis for deletion detection in Duchenne muscular dystrophy.利用脉冲场凝胶电泳检测杜氏肌营养不良症中的缺失突变
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Dystrophin: the protein product of the Duchenne muscular dystrophy locus.肌营养不良蛋白：杜氏肌营养不良基因座的蛋白质产物。
Cell. 1987 Dec 24;51(6):919-28. doi: 10.1016/0092-8674(87)90579-4.