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通过与克隆的DNA序列连锁分析,将贝克肌营养不良基因定位在X染色体短臂上。

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.

作者信息

Kingston H M, Sarfarazi M, Thomas N S, Harper P S

出版信息

Hum Genet. 1984;67(1):6-17. doi: 10.1007/BF00270551.

DOI:10.1007/BF00270551
PMID:6086495
Abstract

A linkage study in 30 Becker muscular dystrophy (BMD) kindreds using three cloned DNA sequences from the X chromosome which demonstrate restriction fragment length polymorphisms (RFLPs), suggests that the BMD gene is located on the short arm of the X chromosome, in the p21 region. The genes for Becker and Duchenne dystrophies must therefore be closely linked, if not allelic, and any future DNA probes found to be of practical use in one disorder should be equally applicable to the other. The linkage analysis also provides data on the frequency of recombination along the short arm of the X chromosome, and across the centromeric region.

摘要

一项针对30个贝克型肌营养不良(BMD)家族的连锁研究,使用了来自X染色体的三个克隆DNA序列,这些序列显示出限制性片段长度多态性(RFLP),表明BMD基因位于X染色体短臂的p21区域。因此,贝克型和杜兴型肌营养不良的基因必定紧密连锁,即便不是等位基因,那么未来发现的任何对一种疾病有实际用途的DNA探针应该同样适用于另一种疾病。连锁分析还提供了关于X染色体短臂以及着丝粒区域重组频率的数据。

相似文献

1
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.通过与克隆的DNA序列连锁分析,将贝克肌营养不良基因定位在X染色体短臂上。
Hum Genet. 1984;67(1):6-17. doi: 10.1007/BF00270551.
2
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3
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J Med Genet. 1985 Jun;22(3):179-81. doi: 10.1136/jmg.22.3.179.
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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。
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本文引用的文献

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[A new x-chromosomal muscular dystrophy].[一种新的X染色体连锁型肌营养不良症]
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Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy.对患有X连锁肌营养不良症的家族进行人类X染色体短臂的多点连锁分析。
Hum Genet. 1985;70(4):365-75. doi: 10.1007/BF00295379.
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A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information.一种用于评估X连锁疾病遗传风险的计算机程序,它将系谱和DNA探针数据与其他条件信息相结合。
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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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Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy.
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一名患有杜氏肌营养不良症的女性中的(X;6)易位:对DMD基因座定位的影响
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4
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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Chiasma derived genetic lengths and recombination fractions: chromosomes 2 and 9.交叉衍生的遗传长度和重组率:第2号和第9号染色体
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6
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.
7
Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome.贝克肌肉萎缩症与X染色体短臂上一个多态性DNA序列之间的基因连锁。
J Med Genet. 1983 Aug;20(4):255-8. doi: 10.1136/jmg.20.4.255.
8
Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy.杜兴氏和贝克氏肌营养不良家族中Xg血型系统与两种X染色体DNA多态性之间的遗传连锁关系。
Hum Genet. 1983;65(2):169-71. doi: 10.1007/BF00286656.
9
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.对人类X染色体短臂上杜兴氏肌营养不良症基因座两侧的两个克隆DNA序列进行连锁分析。
Nucleic Acids Res. 1983 Apr 25;11(8):2303-12. doi: 10.1093/nar/11.8.2303.
10
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.单拷贝序列与人类X和Y染色体上的多态性和同源基因座杂交。
Proc Natl Acad Sci U S A. 1982 Sep;79(17):5352-6. doi: 10.1073/pnas.79.17.5352.