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Familial deletion in Becker type muscular dystrophy within the pXJ region.

作者信息

Liechti-Gallati S, Braga S, Hirsiger H, Moser H

机构信息

University Department of Pediatrics, Inselpital, Berne, Switzerland.

出版信息

Hum Genet. 1987 Nov;77(3):267-8. doi: 10.1007/BF00284483.

DOI:10.1007/BF00284483
PMID:2890571
Abstract

A family of an isolated patient with Becker muscular dystrophy has been investigated by DNA analysis. Southern blotting and hybridization were performed with six probes (C7, pERT87.15, pERT87.1, pXJ1.1, pXJ2.3, 754) mapping in the Xp21 region. A deletion within the pXJ region was demonstrated in the proband, his mother and all three sisters. The segregation pattern for the restriction fragment length polymorphisms (RFLPs) observed with the pXJ probes as well as with pERT87.15, pERT87.1 and 754 probes indicates that the deletion is of grandpaternal origin.

摘要

相似文献

1
Familial deletion in Becker type muscular dystrophy within the pXJ region.
Hum Genet. 1987 Nov;77(3):267-8. doi: 10.1007/BF00284483.
2
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A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome.最初在被诊断为库格尔贝格-韦兰德综合征的携带女性中发现的源自父系的Xp21区域新发缺失。
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[Carrier detection and gene analysis in a Duchenne muscular dystrophy family].
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引用本文的文献

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Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree.范德伍德综合征（VWS）与肾素（REN）的连锁关系以及在一个大型家系中排除疾病位点的候选基因转化生长因子β2（TGFB2）
Hum Genet. 1993 Mar;91(1):55-62. doi: 10.1007/BF00230223.
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Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.杜兴氏和贝克型肌营养不良症的分子缺失模式。
Hum Genet. 1989 Mar;81(4):343-8. doi: 10.1007/BF00283688.
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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

本文引用的文献

1
The screening of Duchenne muscular dystrophy patients for submicroscopic deletions.对杜氏肌营养不良症患者进行亚显微缺失筛查。
J Med Genet. 1986 Dec;23(6):516-20. doi: 10.1136/jmg.23.6.516.
2
DNA deletions in mild and severe Becker muscular dystrophy.轻度和重度贝克型肌营养不良症中的DNA缺失
Hum Genet. 1987 Mar;75(3):281-5. doi: 10.1007/BF00281075.
3
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.贝克型和杜兴型 muscular dystrophy患者DNA缺失分析
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.
4
RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10.杜兴氏肌营养不良症cDNA克隆9和10的限制性片段长度多态性
Am J Hum Genet. 1990 Jun;46(6):1090-4.
Nature. 1986;322(6074):73-7. doi: 10.1038/322073a0.
4
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.与杜氏肌营养不良症相关的X;21易位断点的克隆
Nature. 1985;318(6047):672-5. doi: 10.1038/318672a0.
5
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.利用紧密连锁的DNA片段检测跨越杜氏肌营养不良症基因座的缺失
Nature. 1985;316(6031):842-5. doi: 10.1038/316842a0.
6
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.七种DNA探针与杜兴氏和贝克氏肌肉营养不良症的遗传连锁关系。
Hum Genet. 1985;71(1):62-74. doi: 10.1007/BF00295671.
7
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.对一名患有X染色体缺失的男性患者DNA中缺失的DNA片段进行特异性克隆。
Proc Natl Acad Sci U S A. 1985 Jul;82(14):4778-82. doi: 10.1073/pnas.82.14.4778.
8
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.从X染色体特异性文库中分离检测限制性片段长度多态性的探针：对杜氏肌营养不良症诊断的潜在用途。
Hum Genet. 1985;70(2):148-56. doi: 10.1007/BF00273073.
9
Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.利用限制性片段长度多态性进行X连锁型肌营养不良的携带者检测和产前诊断。
J Med Genet. 1986 Dec;23(6):560-72. doi: 10.1136/jmg.23.6.560.
10
Molecular deletion analysis in Duchenne muscular dystrophy.杜兴氏肌营养不良症的分子缺失分析
J Med Genet. 1986 Dec;23(6):509-15. doi: 10.1136/jmg.23.6.509.