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人类7号染色体的臂内倒位。

Paracentric inversion of a human chromosome 7.

作者信息

Shimba H, Ohtaki K, Tanabe K, Sofuni T

出版信息

Hum Genet. 1976 Jan 28;31(1):1-7. doi: 10.1007/BF00270393.

Abstract

In the course of chromosome studies of atomic bomb survivors in Hiroshima using the trypsin-G-banding and Q-banding methods, a 40-year-old male was found to have an abnormal banding pattern in the long arm of a chromosome 7, although no such abnormality was detected by ordinary staining method. Since all other chromosomes apparently had normal banding patterns, the abnormality was determined to be a paracentric inversion of a chromosome 7, which is described as 46, XY, inv (7) (q22q31). This is the first demonstration of a possible paracentric inversion in man.

摘要

在使用胰蛋白酶-G显带和Q显带方法对广岛原子弹幸存者进行染色体研究的过程中,发现一名40岁男性的7号染色体长臂存在异常带型,而普通染色方法未检测到此类异常。由于所有其他染色体的带型显然正常,因此确定该异常为7号染色体的臂内倒位,描述为46, XY, inv (7) (q22q31)。这是人类中可能存在臂内倒位的首次证明。

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