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通过原位杂交将血管性血友病因子假基因亚定位到46,X,t(X;22)(pter;q11.21)易位中的22q11.22 - q11.23。

Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

作者信息

Patracchini P, Calzolari E, Aiello V, Palazzi P, Banin P, Marchetti G, Bernardi F

机构信息

Centro di Studi Biochimici delle Patologie del Genoma Umano, Università di Ferrara, Italy.

出版信息

Hum Genet. 1989 Oct;83(3):264-6. doi: 10.1007/BF00285168.

Abstract

The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.

摘要

血管性血友病因子假基因先前被定位于22号染色体,现通过原位杂交进行亚定位,所用探针为一个完全包含在假基因区域内的血管性血友病因子cDNA片段。染色体铺展来自一名携带独特的平衡型新生易位46,X,t(X;22)(pter;q11.21)的患者。银粒分析表明,人类血管性血友病因子假基因位于22q11.22-q11.23,该区域与多种体细胞和染色体结构改变相关。

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