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脆性X染色体分析:高分辨率制片中脆性位点的定位与检测

Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations.

作者信息

Krawczun M S, Jenkins E C, Brown W T

出版信息

Hum Genet. 1985;69(3):209-11. doi: 10.1007/BF00293026.

Abstract

Fragile X chromosome preparations were analyzed at levels of up to 850 bands per haploid set. We were able to consistently sublocalize the Xqter fragile site to band Xq27.3 using high-resolution methods. Chromosome length versus the frequency of fragile X expression was also compared. The fragile site appeared at a higher percentage in more condensed chromosome preparations. The importance of this finding is that high-resolution chromosome preparations do not optimize fragile-X detection.

摘要

对脆性X染色体标本进行了分析,单倍体组可达850条带的分辨率水平。我们能够使用高分辨率方法将Xqter脆性位点始终定位到Xq27.3带。还比较了染色体长度与脆性X表达频率。在染色体凝聚程度更高的标本中,脆性位点出现的百分比更高。这一发现的重要意义在于,高分辨率染色体标本并不能优化脆性X的检测。

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