Busson-Le Coniat M, Salomon-Nguyen F, Hillion J, Bernard O A, Berger R
INSERM U 434 and CNRS SD 401 No. 434, Paris, France.
Leukemia. 1999 Feb;13(2):302-6. doi: 10.1038/sj.leu.2401299.
The MLL gene, located on chromosome band 11q23 is fused to different partner genes as a result of various chromosomal translocations in hematopoietic malignancies. A t(1;11) (q21;q23) resulting in a MLL-AF1q fusion gene has previously been reported. Cytogenetic studies on six cases are reported, including one three-way translocation. FISH analysis using a YAC encompassing the MLL gene and a YAC encompassing the AF1q locus showed splitting in three cases and two patients, respectively. PCR analysis of two cases confirmed that AF1q is specifically associated with t(1;11)(q21;q23). The MLL-AF1q fusion mRNA was similar to that previously described in one case and involved MLL exon 7 in the other. This study confirms the specific involvement of AF1q in t(1;11) (q21;q23)-positive acute leukemia with monocytic involvement.
位于11号染色体11q23带的MLL基因，在造血系统恶性肿瘤中由于各种染色体易位而与不同的伙伴基因融合。先前已报道过导致MLL-AF1q融合基因的t(1;11)(q21;q23)。本文报道了6例病例的细胞遗传学研究，其中包括1例三向易位。使用包含MLL基因的YAC和包含AF1q基因座的YAC进行FISH分析，结果分别显示3例和2例出现分裂。对2例病例的PCR分析证实，AF1q与t(1;11)(q21;q23)特异性相关。MLL-AF1q融合mRNA在1例中与先前描述的相似，在另一例中涉及MLL外显子7。本研究证实了AF1q在伴有单核细胞受累的t(1;11)(q21;q23)阳性急性白血病中的特异性参与。
