Savage P D, Hanson C A, Kersey J H
Blood. 1987 Jul;70(1):327-9.
Twenty four samples of DNA from 23 unrelated individuals were analyzed for the presence of a novel restriction fragment length polymorphism (RFLP) involving the proto-oncogene ETS-1 at an Xba I site. Four samples from unrelated individuals lacked an Xba I site, giving rise to a longer restriction fragment detectable by Southern analysis; two samples were from normal tissue, and two were from acute myelogenous leukemic blasts. Thus, no association could be found between the RFLP and disease among the individuals studied. Pedigree analysis of another cohort demonstrated Mendelian inheritance consistent with a somatic polymorphism. The practical applications of RFLP analysis in clinical and research settings, and the usefulness of this Xba I RFLP in the study of hematologic malignancies because of its location in 11q23, are discussed.
对来自23名无亲缘关系个体的24份DNA样本进行了分析,以检测在Xba I位点涉及原癌基因ETS-1的一种新型限制性片段长度多态性(RFLP)。来自无亲缘关系个体的4份样本缺乏Xba I位点,通过Southern分析可检测到一个更长的限制性片段;其中两份样本来自正常组织,两份来自急性髓性白血病母细胞。因此,在所研究的个体中未发现RFLP与疾病之间存在关联。对另一队列的系谱分析表明,其符合孟德尔遗传,提示为体细胞多态性。本文讨论了RFLP分析在临床和研究环境中的实际应用,以及由于该Xba I RFLP位于11q23,在血液系统恶性肿瘤研究中的有用性。