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1
Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.对从与X连锁肌营养不良相关的X;21易位断点克隆的DNA片段XJ内多态性的连锁分析。
J Med Genet. 1986 Dec;23(6):548-55. doi: 10.1136/jmg.23.6.548.
2
Molecular analysis of 25 Chinese families with Duchenne/Becker muscular dystrophy.
J Formos Med Assoc. 1990 Oct;89(10):850-6.
3
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.
4
Linkage studies in Duchenne and Becker muscular dystrophies.杜氏和贝克氏肌营养不良症的连锁研究。
J Med Genet. 1986 Dec;23(6):538-47. doi: 10.1136/jmg.23.6.538.
5
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.用于杜氏肌营养不良症携带者检测和产前诊断的DNA探针分析：一种标准诊断程序。
J Med Genet. 1986 Dec;23(6):573-80. doi: 10.1136/jmg.23.6.573.
6
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.
7
Prenatal diagnosis and carrier detection by DNA studies in a Duchenne muscular dystrophy family with no living affected male.
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8
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.
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Deletion analysis for Duchenne (and Becker) muscular dystrophy.
Aust Paediatr J. 1989 Oct;25(5):292-5. doi: 10.1111/j.1440-1754.1989.tb01480.x.
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The problem of Duchenne muscular dystrophy.
Philos Trans R Soc Lond B Biol Sci. 1988 Jun 15;319(1194):275-84. doi: 10.1098/rstb.1988.0049.

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Monozygotic twins discordant for Aicardi syndrome.患艾卡迪综合征的单卵双胞胎。
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Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.一项关于一种新的X连锁肌病的连锁研究，提示排除杜氏肌营养不良症（DMD）基因座，并初步定位于Xq远端。
Am J Hum Genet. 1988 Jan;42(1):84-8.
3
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.
4
Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.
Proc Natl Acad Sci U S A. 1991 May 1;88(9):3767-71. doi: 10.1073/pnas.88.9.3767.
5
An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.在肌营养不良蛋白基因3'端可通过聚合酶链反应检测到的一种信息性多态性。
Hum Genet. 1990 Feb;84(3):283-5. doi: 10.1007/BF00200576.
6
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.肌营养不良蛋白基因5'端新微卫星多态性的非放射性检测及基因内重组的评估。
Am J Hum Genet. 1991 Aug;49(2):311-9.
7
Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene.中国杜兴氏肌营养不良基因的限制性片段长度多态性及DNA缺失分析
J Med Genet. 1991 Mar;28(3):167-70. doi: 10.1136/jmg.28.3.167.
8
Dystrophin in frameshift deletion patients with Becker muscular dystrophy.贝氏肌营养不良症移码缺失患者中的肌营养不良蛋白
Am J Hum Genet. 1992 Sep;51(3):562-70.

本文引用的文献

1
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。
Am J Hum Genet. 1981 Jul;33(4):513-8.
2
Duchenne muscular dystrophy carrier detection using logistic discrimination: serum creatine kinase, hemopexin, pyruvate kinase, and lactate dehydrogenase in combination.使用逻辑判别法进行杜氏肌营养不良症携带者检测：联合检测血清肌酸激酶、血红素结合蛋白、丙酮酸激酶和乳酸脱氢酶
Am J Med Genet. 1982 Sep;13(1):27-38. doi: 10.1002/ajmg.1320130107.
3
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.X染色体短臂上一个克隆DNA序列与杜氏肌营养不良症的连锁关系。
Nature. 1982 Nov 4;300(5887):69-71. doi: 10.1038/300069a0.
4
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.一名女性因涉及Xp21的易位及正常X染色体的非随机失活而表现出X连锁型肌营养不良。
Hum Genet. 1984;67(1):115-9. doi: 10.1007/BF00270570.
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Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.杜兴氏肌营养不良症，涉及dmd基因易位至核糖体RNA基因旁。
Science. 1984 Jun 29;224(4656):1447-9. doi: 10.1126/science.6729462.
6
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.利用连锁DNA多态性对杜氏肌营养不良症家系进行基因型预测。
J Med Genet. 1983 Aug;20(4):252-4. doi: 10.1136/jmg.20.4.252.
7
Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy.与杜氏肌营养不良症基因相关的DNA标记物的临床应用。
Arch Dis Child. 1984 Mar;59(3):208-16. doi: 10.1136/adc.59.3.208.
8
A strategy to reveal high-frequency RFLPs along the human X chromosome.一种揭示人类X染色体上高频限制性片段长度多态性的策略。
Am J Hum Genet. 1984 May;36(3):546-64.
9
Lambda Charon vectors (Ch32, 33, 34 and 35) adapted for DNA cloning in recombination-deficient hosts.适用于在重组缺陷宿主中进行DNA克隆的λ噬菌体Charon载体（Ch32、33、34和35）。
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10
Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter.从含有噬菌体SP6启动子的质粒中高效体外合成生物活性RNA和RNA杂交探针。
Nucleic Acids Res. 1984 Sep 25;12(18):7035-56. doi: 10.1093/nar/12.18.7035.

对从与X连锁肌营养不良相关的X;21易位断点克隆的DNA片段XJ内多态性的连锁分析。

Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.

作者信息

Thompson M W, Ray P N, Belfall B, Duff C, Logan C, Oss I, Worton R G

出版信息

J Med Genet. 1986 Dec;23(6):548-55. doi: 10.1136/jmg.23.6.548.

DOI:10.1136/jmg.23.6.548
PMID:2879926
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049836/
Abstract

Cloning of a DNA segment including the translocation breakpoint in a female with an X;21 translocation and X linked muscular dystrophy has led to identification of three subclones which detect polymorphic markers. The alleles of these markers, XJ1 X 1, XJ1 X 2, and XJ2 X 2, are in strong linkage disequilibrium. Linkage analysis in 31 families with Duchenne or Becker muscular dystrophy has shown recombination within the XJ segment in one case, and recombination of DMD with both the XJ segment and the pERT87 segment in a second, but has revealed no recombination between the XJ and pERT87 segments. The XJ markers increase the proportion of DMD and BMD families that are informative for carrier detection and prenatal diagnosis, but in view of the risk of recombination they must be used with caution. The site(s) of the DMD mutation(s) relative to the XJ and pERT87 markers, and the detailed molecular structure of the DMD region, remain to be determined.

摘要

对一名患有X;21易位和X连锁型肌营养不良症的女性患者进行DNA片段克隆，该片段包含易位断点，结果鉴定出三个能检测多态性标记的亚克隆。这些标记XJ1 X 1、XJ1 X 2和XJ2 X 2的等位基因处于强连锁不平衡状态。对31个患有杜氏或贝克型肌营养不良症的家庭进行连锁分析，结果显示，在一个病例中XJ片段内发生了重组，在另一个病例中DMD基因与XJ片段和pERT87片段均发生了重组，但未发现XJ和pERT87片段之间发生重组。XJ标记增加了可用于携带者检测和产前诊断的杜氏肌营养不良症（DMD）和贝克型肌营养不良症（BMD）家庭的比例，但鉴于存在重组风险，使用时必须谨慎。DMD突变位点相对于XJ和pERT87标记的位置以及DMD区域的详细分子结构仍有待确定。