Tarzami S T, Kringstein A M, Conte R A, Verma R S
Division of Genetics, The Long Island College Hospital-SUNY Health Science Center, Brooklyn, NY 11201, USA.
Mol Gen Genet. 1997 Jan 27;253(4):512-4. doi: 10.1007/s004380050351.
In humans, acute myelomonocytic leukemia (AMML) with abnormal bone marrow eosinophilia is diagnosed by the presence of a pericentric inversion in chromosome 16, involving breakpoints p13;q23 [i.e., inv(16)(p13;q23)]. A pericentric inversion involves breaks that have occurred on the p and q arms and the segment in between is rotated 180 degrees and reattaches. The recent development of a "human micro-coatasome" painting probe for 16p contains unique DNA sequences that fluorescently label only the short arm of chromosome 16, which facilitates the identification of such inversions and represents an ideal tool for analyzing the "divergence/convergence" of the equivalent human chromosome 16 (PTR 18, GGO 17 and PPY 19) in the great apes, chimpanzee, gorilla and orangutan. When the probe is used on the type of pericentric inversion characteristic of AMML, signals are observed on the proximal portions (the regions closest to the centromere) of the long and short arms of chromosome 16. The probe hybridized to only the short arm of all three ape chromosomes and signals were not observed on the long arms, suggesting that a pericentric inversion similar to that seen in AMML has not occurred in any of these great apes.
在人类中，伴有骨髓嗜酸性粒细胞异常的急性粒单核细胞白血病（AMML）是通过16号染色体上的臂间倒位来诊断的，该倒位涉及断点p13；q23 [即inv(16)(p13;q23)]。臂间倒位涉及p臂和q臂上发生的断裂，其间的片段旋转180度并重新连接。最近开发的一种用于16p的“人类微染色体涂染探针”包含独特的DNA序列，该序列仅对16号染色体的短臂进行荧光标记，这有助于识别此类倒位，并且是分析大猩猩、黑猩猩和猩猩等类人猿中与人类16号染色体（PTR 18、GGO 17和PPY 19）等效染色体的“分歧/融合”的理想工具。当该探针用于AMML特征性的臂间倒位类型时，在16号染色体长臂和短臂的近端部分（最靠近着丝粒的区域）观察到信号。该探针仅与所有三种猿类染色体的短臂杂交，在长臂上未观察到信号，这表明在这些类人猿中均未发生与AMML中所见类似的臂间倒位。
