用于阿尔茨海默病性痴呆和唐氏综合征基因分析的人类21号染色体特异性DNA探针的选择。

Selection of human chromosome 21-specific DNA probes for genetic analysis in Alzheimer's dementia and Down syndrome.

作者信息

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

机构信息

Department of Biochemistry, University of Antwerp, Belgium.

出版信息

Hum Genet. 1989 Aug;83(1):58-60. doi: 10.1007/BF00274149.

DOI:10.1007/BF00274149

PMID:2570018

Abstract

We used a mouse-human somatic cell hybrid to construct a chromosome 21-enriched library in phage vector EMBL4. In all, 35 phage clones containing human inserts were identified by differential screening with total human and mouse DNA. Whole recombinant phages were regionally mapped on chromosome 21 by Southern blot analysis using competitive hybridisation conditions to block repetitive sequences. Ten phage clones mapped proximal to a translocation breakpoint in band 21q21.2, while 25 mapped distal to this point. Three of the phage clones identify restriction fragment length polymorphisms. Polymorphic chromosome 21 markers may be useful in the genetic analysis of Alzheimer's dementia and Down syndrome.

摘要

我们使用小鼠-人类体细胞杂种构建了一个以噬菌体载体EMBL4为载体的21号染色体富集文库。通过用人和小鼠总DNA进行差异筛选，总共鉴定出35个含有人插入片段的噬菌体克隆。利用竞争性杂交条件阻断重复序列，通过Southern印迹分析将完整的重组噬菌体定位到21号染色体上。10个噬菌体克隆定位在21q21.2带的一个易位断点近端，而25个定位在该点远端。其中3个噬菌体克隆鉴定出限制性片段长度多态性。21号染色体多态性标记可能有助于阿尔茨海默病性痴呆和唐氏综合征的遗传分析。