鉴定用于阿尔茨海默病和唐氏综合征基因研究的21号染色体DNA多态性。

Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome.

作者信息

Van Camp G, Backhovens H, Cruts M, Wehnert A, Van Hul W, Stinissen P, Van Broeckhoven C

机构信息

Department of Biochemistry, Born-Bunge Foundation, University of Antwerp (UIA), Antwerpen, Belgium.

出版信息

Hum Genet. 1991 Oct;87(6):649-53. doi: 10.1007/BF00201718.

DOI:10.1007/BF00201718

PMID:1682232

Abstract

Linkage studies in families with presenile onset of Alzheimer's disease (AD) indicated the presence of a predisposing gene on the proximal long arm of chromosome 21. We mapped four new loci in the candidate AD region using somatic cell hybrids. For three of the four loci, several restriction fragment length polymorphisms were found; for one locus, a multiallelic (CA)n dinucleotide polymorphism was detected. Preliminary genetic mapping of the new polymorphic loci relative to the AD-linked loci was obtained in a reference pedigree. In addition, we used the (CA)n dinucleotide polymorphism to reconstruct the non-disjunction event in a Down syndrome (DS) patient whose mother died of familial AD.

摘要

对早老性阿尔茨海默病（AD）家族进行的连锁研究表明，21号染色体长臂近端存在一个易感基因。我们利用体细胞杂种在候选AD区域定位了四个新位点。在这四个位点中的三个位点发现了几种限制性片段长度多态性；在一个位点检测到一个多等位基因（CA）n二核苷酸多态性。在一个参考系谱中获得了新的多态性位点相对于AD连锁位点的初步遗传定位。此外，我们利用（CA）n二核苷酸多态性重建了一名唐氏综合征（DS）患者的不分离事件，该患者的母亲死于家族性AD。