Kao F T, Yu J, Tong S, Qi J, Patanjali S R, Weissman S M, Patterson D
Eleanor Roosevelt Institute for Cancer Research, Denver, Colorado 80206.
Genomics. 1994 Oct;23(3):700-3. doi: 10.1006/geno.1994.1561.
To increase candidate genes from human chromosome 21 for the analysis of Down syndrome and other genetic diseases localized on this chromosome, we have isolated and studied 9 cDNA clones encoded by chromosome 21. For isolating cDNAs, single-copy microclones from a chromosome 21 microdissection library were used in direct screening of various cDNA libraries. Seven of the cDNA clones have been regionally mapped on chromosome 21 using a comprehensive hybrid mapping panel comprising 24 cell hybrids that divide the chromosome into 33 subregions. These cDNA clones with refined mapping positions should be useful for identification and cloning of genes responsible for the specific component phenotypes of Down syndrome and other diseases on chromosome 21, including progressive myoclonus epilepsy in 21q22.3.
为了增加来自人类21号染色体的候选基因，用于唐氏综合征及定位在该染色体上的其他遗传疾病的分析，我们分离并研究了由21号染色体编码的9个cDNA克隆。为了分离cDNA，来自21号染色体显微切割文库的单拷贝微克隆被用于直接筛选各种cDNA文库。使用一个由24个细胞杂种组成的综合杂交定位板，将其中7个cDNA克隆定位到了21号染色体上，该定位板将21号染色体划分为33个亚区域。这些具有精确定位位置的cDNA克隆，对于鉴定和克隆导致唐氏综合征特定组成型表型以及21号染色体上其他疾病（包括21q22.3区域的进行性肌阵挛癫痫）的基因应该是有用的。
