一名患有共济失调毛细血管扩张症的患者的T细胞白血病中t(7;14)(q35;q32)染色体易位的分子分析。

Molecular analysis of a t(7;14)(q35;q32) chromosome translocation in a T cell leukemia of a patient with ataxia telangiectasia.

作者信息

Russo G, Isobe M, Pegoraro L, Finan J, Nowell P C, Croce C M

机构信息

Wistar Institute of Anatomy and Biology, Philadelphia, Pennsylvania 19104.

出版信息

Cell. 1988 Apr 8;53(1):137-44. doi: 10.1016/0092-8674(88)90495-3.

DOI:10.1016/0092-8674(88)90495-3

PMID:3258192

Abstract

Molecular analysis of somatic cell hybrids derived from T cells carrying a t(7;14)(q35;q32) chromosomal translocation from a patient with ataxia telangiectasia and T cell leukemia indicates that the breakpoint on chromosome 14 is proximal to the IgH locus and to the D14S1 locus, while the breakpoint on chromosome 7 involves the T cell receptor beta chain locus immediately 5' to J beta 1.5 on chromosome 7. The separation of V beta and C beta observed in somatic cell hybrids defined the orientation of the T cell receptor beta chain locus on chromosome 7 where the V beta genes are centromeric and the C beta genes are telomeric. A novel chromosomal alteration, undetected cytogenetically, was revealed as being an inversion with duplication of the distal band of chromosome 14q32. The importance of the 14q32 region in the leukemogenic process is discussed.

摘要

对源自一名患有共济失调毛细血管扩张症和T细胞白血病患者的、携带t(7;14)(q35;q32)染色体易位的T细胞的体细胞杂种进行分子分析表明，14号染色体上的断点位于免疫球蛋白重链（IgH）基因座和D14S1基因座近端，而7号染色体上的断点涉及7号染色体上紧接Jβ1.5 5'端的T细胞受体β链基因座。在体细胞杂种中观察到的Vβ和Cβ的分离确定了7号染色体上T细胞受体β链基因座的方向，其中Vβ基因位于着丝粒侧，Cβ基因位于端粒侧。一种细胞遗传学未检测到的新型染色体改变被揭示为14q32远端带的倒位并重复。文中讨论了14q32区域在白血病发生过程中的重要性。