Reznik-Wolf H, Treves T A, Davidson M, Aharon-Peretz J, St George Hyslop P H, Chapman J, Korczyn A D, Goldman B, Friedman E
Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Hum Genet. 1996 Dec;98(6):700-2. doi: 10.1007/s004390050288.
Germline mutations in the presenilin 1 (PS1) gene apparently account for the majority of early-onset, familial Alzheimer's disease (AD). Using a mutation-screening strategy (denaturing gradient gel electrophoresis; DGGE), we analyzed a large family with early onset AD and seizures. The patients in this family showed a novel missense mutation in exon 5 of the PS1 gene (A to T change in codon 120, altering glutamine to aspartic acid). This novel mutation is located within the second hydrophilic domain of the molecule, a region not particularly involved in previously described germline mutations, and is of unknown biological significance. These results also demonstrate that DGGE can be used effectively to screen for mutations within this gene.
早老素1（PS1）基因的种系突变显然是早发性家族性阿尔茨海默病（AD）的主要病因。我们采用一种突变筛查策略（变性梯度凝胶电泳；DGGE），对一个患有早发性AD和癫痫的大家族进行了分析。该家族中的患者在PS1基因的第5外显子出现了一个新的错义突变（密码子120处的A到T改变，使谷氨酰胺变为天冬氨酸）。这个新突变位于该分子的第二个亲水区内，这一区域与先前描述的种系突变并无特别关联，其生物学意义尚不清楚。这些结果还表明，DGGE可有效地用于筛查该基因内的突变。
