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埃默里-德赖富斯肌营养不良症：通过与凝血因子VIII基因连锁分析确定其基因定位于Xq27.3至qter。

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

作者信息

Yates J R, Affara N A, Jamieson D M, Ferguson-Smith M A, Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Johnston A W, Kelly K

出版信息

J Med Genet. 1986 Dec;23(6):587-90. doi: 10.1136/jmg.23.6.587.

DOI:10.1136/jmg.23.6.587
PMID:2879931
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049841/
Abstract

Two families with Emery-Dreifuss muscular dystrophy (EMD) have been studied with DNA markers mapping to Xq27.3----qter. No recombination was observed in 11 phase known meioses informative for the factor VIII gene (F8C) and eight phase known meioses informative for DXS15 (DX13), giving maximum lod scores of 3.50 and 2.50 respectively at a recombination fraction of zero. DXS52 (St14) showed one recombinant in 12 phase known meioses giving a maximum lod score of 2.62 at a recombination fraction of 0.07. These results map EMD to the distal end of the long arm of the X chromosome and are an important step in the development of tests for carrier detection and prenatal diagnosis.

摘要

对两个患有Emery-Dreifuss肌营养不良症（EMD）的家族进行了研究，使用了定位到Xq27.3----qter的DNA标记。在11个对因子VIII基因（F8C）信息丰富的已知相减数分裂中未观察到重组，在8个对DXS15（DX13）信息丰富的已知相减数分裂中也未观察到重组，在重组率为零时，最大lod分数分别为3.50和2.50。DXS52（St14）在12个已知相减数分裂中显示出1个重组体，在重组率为0.07时，最大lod分数为2.62。这些结果将EMD定位到X染色体长臂的远端，是开发携带者检测和产前诊断测试的重要一步。

相似文献

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Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.埃默里-德赖富斯肌营养不良症：通过与凝血因子VIII基因连锁分析确定其基因定位于Xq27.3至qter。
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引用本文的文献

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Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.埃默里-德赖富斯肌营养不良症：与Xq28远端标记的连锁关系。
J Med Genet. 1993 Feb;30(2):108-11. doi: 10.1136/jmg.30.2.108.
2
Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.
Hum Genet. 1988 Sep;80(1):59-62. doi: 10.1007/BF00451457.
3
Diagnosis of genetic disease using recombinant DNA. Supplement.使用重组DNA进行遗传病诊断。增刊。
Hum Genet. 1987 Sep;77(1):66-75. doi: 10.1007/BF00284717.
4
Molecular analysis of muscular dystrophy.
J Muscle Res Cell Motil. 1988 Feb;9(1):1-8. doi: 10.1007/BF01682143.
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Gene deletions in X-linked muscular dystrophy.X连锁型肌营养不良中的基因缺失
Am J Hum Genet. 1989 Apr;44(4):496-503.
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Frequent alterations of visual pigment genes in adrenoleukodystrophy.肾上腺脑白质营养不良中视觉色素基因的频繁改变。
Am J Hum Genet. 1988 Mar;42(3):408-13.
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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.
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Color vision defects in adrenomyeloneuropathy.肾上腺脑白质营养不良中的色觉缺陷。
Am J Hum Genet. 1989 Jun;44(6):794-8.
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Emery-Dreifuss syndrome.埃默里-德赖富斯综合征
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Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.将伴有中性粒细胞减少和线粒体异常的X连锁心脏骨骼肌病（巴斯综合征）的基因座定位到Xq28。
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本文引用的文献

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Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.埃默里-德赖富斯肱腓型肌营养不良症：一种伴有异常挛缩和心动过缓的X连锁肌病。
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Am J Hum Genet. 1974 Sep;26(5):588-97.
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X-linked scapuloperoneal syndrome.X连锁肩胛腓骨综合征
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The genetic linkage map of the human X chromosome.人类X染色体的遗传连锁图谱。
Science. 1985 Nov 15;230(4727):753-8. doi: 10.1126/science.4059909.
7
The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.血友病A和血友病B的人类基因位于X染色体Xq27.3处的脆性位点两侧。
EMBO J. 1985 Mar;4(3):725-9. doi: 10.1002/j.1460-2075.1985.tb03689.x.
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Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.重组DNA技术人类基因图谱委员会报告
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9
Report of the Committee on Methods of Linkage Analysis and Reporting.连锁分析与报告方法委员会报告
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10
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.X和Y染色体遗传构成委员会报告
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