Sacchi N, Cheng S V, Tanzi R E, Gusella J F, Drabkin H A, Patterson D, Haines J H, Papas T S
Laboratory of Molecular Oncology, National Cancer Institute, Frederick, Maryland 21701.
Genomics. 1988 Aug;3(2):110-6. doi: 10.1016/0888-7543(88)90140-1.
The definition of the genetic linkage map of human chromosomes may be helpful in the analysis of cancer-specific chromosome abnormalities. In the translocation (8;21)(q22;q22), a nonrandom cytogenetic abnormality of acute myelogenous leukemia (AML), we previously observed the transposition of the ETS2 gene located at the 21q22 region from chromosome 21 to chromosome 8. However, no ETS2 rearrangements were detected in the DNA of t(8;21)-positive AML cells. Genetic linkage analysis has allowed us to locate the ETS2 gene relative to other loci and to establish that the breakpoint is at an approximate genetic distance of 17 cM from ETS2. When the information from the linkage map is combined with that from molecular studies, it is apparent that (a) the t(8;21) breakpoint does not affect the ETS2 gene structure or the structure of the other four loci proximal to ETS2: D21S55, D21S57, D21S17, and ERG, and ETS-related gene; and (b) the actual DNA sequence involved in the t(8;21) must reside in a 3-cM genetic region between the D21S58 and the D21S55/D21S57 loci, and remains to be identified.
人类染色体遗传连锁图谱的定义可能有助于分析癌症特异性染色体异常。在急性髓性白血病（AML）的一种非随机细胞遗传学异常——易位（8；21）（q22；q22）中，我们之前观察到位于21q22区域的ETS2基因从21号染色体转位到了8号染色体。然而，在t（8；21）阳性AML细胞的DNA中未检测到ETS2重排。遗传连锁分析使我们能够将ETS2基因相对于其他基因座进行定位，并确定断点与ETS2的遗传距离约为17厘摩。当连锁图谱的信息与分子研究的信息相结合时，很明显：（a）t（8；21）断点不影响ETS2基因结构或ETS2近端的其他四个基因座的结构：D21S55、D21S57、D21S17和ERG（一种ETS相关基因）；（b）t（8；21）中涉及的实际DNA序列必定位于D21S58与D21S55/D21S57基因座之间的一个3厘摩的遗传区域内，仍有待确定。
