Mapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3
Mapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3
复制标题
DOI：
10.1038/ng1292-335
复制
发表时间：
1992-12
期刊：
影响因子：
30.8
通讯作者：
C. Broeckhoven;H. Backhovens;M. Cruts;G. D. Winter;M. Bruyland;P. Cras;Jean-Jacques Martin
中科院分区：
文献类型：
--
作者：
C. Broeckhoven;H. Backhovens;M. Cruts;G. D. Winter;M. Bruyland;P. Cras;Jean-Jacques Martin
21号染色体DNA标记的遗传连锁研究和位于21q21.3的β-淀粉样蛋白前体基因的突变分析表明，早发性阿尔茨海默病（EOAD）是一种异质性疾病，至少存在一个其他染色体位点。我们研究了两个扩展的组织病理学证实的EOAD家系AD/A和AD/B，具有高度信息性的短串联重复序列（STR）多态性，发现该疾病与14 q24.3中D14 S43位点的（CA）二核苷酸重复序列多态性完全连锁（Zmax= 13.25，θ = 0.0）。使用额外的14号染色体STR多态性，我们能够描绘出包含EOAD基因的区域，最多为D14 S42和D14 S53之间的8.9厘米摩根，两侧为D14 S43。
Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the β–amyloid protein precursor gene located in 21q21.3 have indicated that early–onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopathologically confirmed EOAD pedigrees, AD/A and AD/B, with highly informative short tandem repeat (STR) polymorphisms and found complete linkage of the disease to a (CA)ndinucleotide repeat polymorphism at locusD14S43in 14q24.3 (Zmax= 13.25 at θ = 0.0). Using additional chromosome 14 STR polymorphisms we were able to delineate the region containing the EOAD gene to an area of, at most, 8.9 centiMorgans betweenD14S42andD14S53, flankingD14S43on both sides.