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通过使用种间杂交的斯氏小家鼠(Mus spretus)小鼠杂交,对定位于人类X染色体Xq26-Xqter区域的标记进行详细排序。

Detailed ordering of markers localizing to the Xq26-Xqter region of the human X chromosome by the use of an interspecific Mus spretus mouse cross.

作者信息

Avner P, Amar L, Arnaud D, Hanauer A, Cambrou J

出版信息

Proc Natl Acad Sci U S A. 1987 Mar;84(6):1629-33. doi: 10.1073/pnas.84.6.1629.

Abstract

Five probes localizing to the Xq26-Xqter region of the human X chromosome have been genetically mapped on the mouse X chromosome using an interspecific cross involving Mus spretus to a contiguous region lying proximally to the Tabby (Ta) locus. Pedigree and recombinational analysis establish the marker order as being Hprt-FIX-c11-G6PD-St14-1. The size of this contiguous region is such that the X-linked muscular dystrophy (mdx) mouse mutation probably maps within this segment. This in turn suggests that it is highly improbable that the mouse mdx locus represents a model for Duchenne muscular dystrophy (DMD). It is, however, compatible with the idea that this mutation may correspond in man to Emery Dreifuss muscular dystrophy. The high frequency of restriction fragment length polymorphisms found in this interspecific system for all the human cross-reacting probes examined up until now, using only a limited number of restriction enzymes, suggests that the Mus spretus mapping system may be of great potential value for establishing the linkage relationships existing in man when conserved chromosomal regions are concerned and human/mouse cross-reacting probes are available or can be obtained.

摘要

利用涉及小家鼠(Mus spretus)的种间杂交,已将定位于人类X染色体Xq26 - Xqter区域的五个探针遗传定位到小鼠X染色体上,该区域位于近位的虎斑(Ta)基因座附近的一个连续区域。家系和重组分析确定标记顺序为Hprt - FIX - c11 - G6PD - St14 - 1。这个连续区域的大小使得X连锁型肌营养不良(mdx)小鼠突变可能定位于此区段内。这进而表明小鼠mdx基因座极不可能代表杜兴氏肌营养不良(DMD)的模型。然而,这与该突变在人类中可能对应于埃默里 - 德赖富斯肌营养不良的观点是相符的。在这个种间系统中,对于迄今所检测的所有人类交叉反应探针,仅使用有限数量的限制酶就发现了高频的限制性片段长度多态性,这表明当涉及保守的染色体区域且有或可获得人类/小鼠交叉反应探针时,小家鼠定位系统对于建立人类中存在的连锁关系可能具有巨大的潜在价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5907/304489/22b46e281229/pnas00271-0170-a.jpg

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