Nagarajan L
Department of Hematology, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
Leuk Lymphoma. 1995 May;17(5-6):361-6. doi: 10.3109/10428199509056846.
Acquired interstitial deletions of the long arm of chromosome 5, are seen in anomalies of the myeloid cells. The refractory anemia (RA) or 5q- syndrome, in which the erythroid and megakaryocytic lineages are predominantly affected, is a relatively indolent clinical entity distinguishable, from the constellation of preneoplastic myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) with trilineage involvement. Recent molecular evidence suggests that the critical region of 5q deletion in MDS/AML resides in the D5S89 locus, which is proximal (centromeric) to the minimal region of loss in the 5q- syndrome RA. The invariable loss of the D5S89 locus in MDS/AML qualifies it for the MDS/AML tumor suppressor locus. The telomeric 5q31 gene governs erythroid and megakaryocytic differentiation and can be termed the RA locus. Isolation and characterization of these genes will lead to an understanding of molecular mechanisms underlying normal hematopoiesis and leukemic transformation.
5号染色体长臂的获得性间质缺失见于髓细胞异常。难治性贫血（RA）或5q-综合征，其中红系和巨核系主要受累，是一种相对惰性的临床实体，可与伴有三系受累的肿瘤前骨髓增生异常综合征（MDS）和急性髓性白血病（AML）相区分。最近的分子证据表明，MDS/AML中5q缺失的关键区域位于D5S89位点，该位点在5q-综合征RA的最小缺失区域近端（着丝粒方向）。MDS/AML中D5S89位点的恒定缺失使其成为MDS/AML肿瘤抑制位点。端粒5q31基因调控红系和巨核系分化，可称为RA位点。这些基因的分离和特性分析将有助于理解正常造血和白血病转化的分子机制。
