Genetic analysis of Duchenne dystrophy.

Genetic analysis of Duchenne dystrophy.
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杜氏营养不良症的遗传分析。

DOI:
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发表时间:
1985
影响因子:
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通讯作者:
Samuel A. Latt
Samuel A. Latt
中科院分区:
医学4区
文献类型:
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作者:
Louis M. Kunkel;Gail Burns;Jeff Aldrige;Samuel A. Latt

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我们已经听到了许多有趣的介绍生理和肌肉相关蛋白质的遗传结构。这些例子包括从培养的营养不良的肌肉细胞到肌动蛋白和肌球蛋白基因的非常具体的分析。我想介绍一些在波士顿儿童医院遗传科进行的人类X染色体的遗传分析。我的报告将主要集中在我们的努力,以开发诊断有用的限制性片段长度多态性(RFLP)(579)的人类X连锁肌营养不良症。我将以在特定的X染色体区域进行“行走”(580)的一些初步尝试来结束我的演讲。
We have heard many interesting presentations on the physiology and genetic structure of muscle related proteins. The examples have ranged from dystrophic muscle cells in culture to very specific analysis of both actin and myosin genes. I would like to present some of the genetic analyses of the human X chromosome being pursued in the Genetics Division at Children’s Hospital in Boston. My presentation will concentrate mainly on our efforts to develop diagnostically useful restriction fragment length polymorphisms (RFLPs) (579) for the human X-linked muscular dystrophies. I will close my presentation with some initial attempts at “walking” (580) in specific X chromosomal regions.