Alberts M J, Pericak-Vance M A, Royal V, Bebout J, Gaskell P, Thomas J, Hung W Y, Clark C, Earl N, Roses A D
Joseph and Kathleen Bryan Alzheimer's Disease Research Center, Duke University Medical Center, Durham, NC 27710.
Ann Neurol. 1991 Aug;30(2):216-9. doi: 10.1002/ana.410300217.
Recent studies have not shown linkage of late-onset (mean age, greater than 60 years) familial Alzheimer's disease (FAD) to the chromosome 21 locus reported linked to early-onset FAD. Beta nerve growth factor (beta-NGF) has been considered a candidate gene in the pathogenesis and therapy of FAD, based on its localization in the cortex and hippocampus and its ability to enhance the growth and survival of cholinergic neurons. A 1.5-kb fragment of the beta-NGF gene was used to detect a BglII restriction fragment length polymorphism, which was then used for linkage analysis. A total of 30 families (27 late onset) with 147 affected members were studied. Close linkage (theta less than or equal to 0.03, z less than or equal to -2.00) of late-onset FAD with beta-NGF was excluded. Two apparent obligate crossovers between affected members were detected in different autopsy-confirmed families. Based on these results, beta-NGF is not the gene responsible for late-onset FAD in the families analyzed.
近期研究未显示晚发型(平均年龄大于60岁)家族性阿尔茨海默病(FAD)与已报道的早发型FAD相关的21号染色体位点存在连锁关系。基于β神经生长因子(β-NGF)定位于大脑皮质和海马体以及其增强胆碱能神经元生长和存活的能力,它被认为是FAD发病机制和治疗中的一个候选基因。利用β-NGF基因的一个1.5千碱基片段检测BglII限制性片段长度多态性,然后将其用于连锁分析。共研究了30个家族(27个晚发型),其中有147名患病成员。排除了晚发型FAD与β-NGF的紧密连锁(θ≤0.03,z≤ -2.00)。在不同的经尸检证实的家族中检测到患病成员之间有两个明显的必然交换。基于这些结果,在所分析的家族中,β-NGF不是导致晚发型FAD的基因。