Rasio D, Schichman S A, Negrini M, Canaani E, Croce C M
Kimmel Cancer Institute, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Cancer Res. 1996 Apr 15;56(8):1766-9.
The ALL1 gene is found rearranged in approximately 10% of acute lymphoblastic leukemias and in over 5% of acute myeloid leukemias. The gene undergoes fusion with either a variety of partner genes located on different chromosomes or with itself. To further characterize the role of the ALL1 gene in the leukemogenic process, and possibly in solid malignancies, we defined its complete genomic structure. The gene, which spans a region on chromosome band 11q23 approximately 90 kb in length, consists of 36 exons, ranging in size from 65 bp to 4249 bp. The determination of intronic sequences flanking the exon boundaries will allow the determination of whether point mutations may be responsible for inactivation of the gene in solid tumors showing loss of heterozygosity at region 11q23.
ALL1基因在约10%的急性淋巴细胞白血病和约5%以上的急性髓性白血病中发生重排。该基因会与位于不同染色体上的多种伙伴基因或自身发生融合。为了进一步阐明ALL1基因在白血病发生过程中以及可能在实体恶性肿瘤中的作用，我们确定了其完整的基因组结构。该基因位于染色体11q23带上，跨度约90 kb，由36个外显子组成，大小从65 bp到4249 bp不等。确定外显子边界两侧的内含子序列将有助于确定点突变是否可能导致11q23区域杂合性缺失的实体瘤中该基因的失活。
