Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction.
Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction.
复制标题
克隆 DNA 探针局部定位于人类 21 号染色体及其在确定不分离起源中的用途。
DOI：
10.1093/nar/13.11.4125
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发表时间：
1985
影响因子：
14.9
通讯作者：
Malcolm A. Ferguson
中科院分区：
文献类型：
--
作者：
Gordon D. Stewart;P. Harris;J. Galt;Malcolm A. Ferguson
通过流式分选从富集21号染色体的DNA构建的重组DNA文库中分离出许多独特序列的重组DNA克隆。其中，5个被映射到染色体21使用体细胞杂交。这些探针和先前分配给21号染色体的探针的区域映射，是在使用染色体分选和体细胞杂交的21号染色体重排的帮助下进行的。三个探针显示位于断裂点21q21.2的两侧。两个探针被证明，以确定限制性片段长度多态性（RFLPs）与高稀有等位基因频率（0.46和0.43）。Bgl II RFLP揭示了父母的起源，在三个10个家庭与唐氏综合征的不分离。
A number of unique sequence recombinant DNA clones were isolated from a recombinant DNA library constructed from DNA enriched for chromosome 21 by flow sorting. Of these, five were mapped to chromosome 21 using a somatic cell hybrid. Regional mapping of these probes and of a probe previously assigned to chromosome 21, was carried out with the aid of chromosome 21 rearrangements using both chromosome sorting and a somatic cell hybrid. Three probes were shown to be located on either side of the breakpoint 21q21.2. Two of the probes were shown to identify restriction fragment length polymorphisms (RFLPs) with high rare-allele frequencies (0.46 and 0.43). A Bgl II RFLP revealed the parental origin of non-disjunction in three of ten families with Down's syndrome.