Sacchi N, Nalbantoglu J, Sergovich F R, Papas T S
Laboratory of Molecular Oncology, National Cancer Institute, Frederick, MD 21701-1013.
Proc Natl Acad Sci U S A. 1988 Oct;85(20):7675-9. doi: 10.1073/pnas.85.20.7675.
The human ETS2 gene, a member of the ETS gene family, with sequence homology with the retroviral ets sequence of the avian erythroblastosis retrovirus E26 is located on chromosome 21. Molecular genetic analysis of Down syndrome (DS) patients with partial trisomy 21 allowed us to reinforce the supposition that ETS2 may be a gene of the minimal DS genetic region. It was originally proposed that a duplication of a portion of the DS region represents the genetic basis of Alzheimer disease, a condition associated also with DS. No evidence of either rearrangements or duplications of ETS2 could be detected in DNA from fibroblasts and brain tissue of Alzheimer disease patients with either the sporadic or the familiar form of the disease. Thus, an altered ETS2 gene dosage does not seem to be a genetic cause or component of Alzheimer disease.
人类ETS2基因是ETS基因家族的成员之一，与禽成红细胞增多症逆转录病毒E26的逆转录病毒ets序列具有序列同源性，定位于21号染色体上。对部分21三体的唐氏综合征（DS）患者进行分子遗传学分析，使我们进一步确信ETS2可能是最小DS遗传区域的一个基因。最初有人提出，DS区域一部分的重复是阿尔茨海默病的遗传基础，而阿尔茨海默病也是一种与DS相关的疾病。在散发性或家族性阿尔茨海默病患者的成纤维细胞和脑组织的DNA中，均未检测到ETS2重排或重复的证据。因此，ETS2基因剂量的改变似乎不是阿尔茨海默病的遗传原因或组成部分。
