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通过基因定位对复杂费城染色体易位(1p-;9q+;22q-)的特征分析

Characterization of a complex Philadelphia translocation (1p-;9q+;22q-) by gene mapping.

作者信息

Geurts van Kessel A H, van Agthoven A J, de Groot P G, Hagemeijer A

出版信息

Hum Genet. 1981;58(2):162-5. doi: 10.1007/BF00278702.

Abstract

Human-Chinese hamster somatic cell hybrids were obtained using circulating leucocytes from a chronic myeloid leukaemia (CML) patients carrying a complex Philadelphia ((Ph1) translocation (1p-;9q+;22q-). Hybrid clones which showed segregation of the translocation chromosomes were studied. The chromosome 22 markers ACO2, ARSA, and NAGA segregated with the 1p- derivative; and the chromosome 1 markers UMPK, PGD, and ENO1 segregated with the 9q+ derivative. Hence, molecular evidence has been obtained for the translocation of the distal part of 22q to chromosome 1 and for the translocation of the distal part of 1p to chromosome 9. No conclusions could be drawn either about translocation of chromosome 9 material or about a possible difference in breakpoint in chromosome 22 when compared with six cases of 9;22 translocations similarly studied and previously reported. In addition, a more precise mapping of PGM1 was obtained, the gene being proximal to UMPK and the breakpoint in 1p32.

摘要

利用一名携带复杂费城(Ph1)易位(1p-;9q+;22q-)的慢性髓性白血病(CML)患者的循环白细胞获得了人-中国仓鼠体细胞杂种。对显示易位染色体分离的杂种克隆进行了研究。染色体22标记物ACO2、ARSA和NAGA与1p-衍生染色体分离;染色体1标记物UMPK、PGD和ENO1与9q+衍生染色体分离。因此,已获得分子证据,证明22q远端部分易位至染色体1,以及1p远端部分易位至染色体9。与之前报道的类似研究的6例9;22易位病例相比,关于染色体9物质的易位或染色体22中可能的断点差异均无法得出结论。此外,获得了PGM1更精确的定位,该基因位于UMPK近端且在1p32处有断点。

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