Van Keuren M L, Watkins P C, Drabkin H A, Jabs E W, Gusella J F, Patterson D
Am J Hum Genet. 1986 Jun;38(6):793-804.
We have used a panel of Chinese hamster X human somatic cell hybrids, each containing various portions of chromosome 21 as the only detectable human chromosome component, for regional mapping of cloned, chromosome 21-derived DNA sequences. Thirty unique and very low-repeat sequences were mapped to the short arm and three sections of the long arm. Three unique sequences map to the proximal part of the terminal band 21q22.3, and five to the distal part of this band. Some of these may represent parts of gene sequences that may be relevant to the pathogenesis of Down syndrome, as 21q22 is the area required to be present in triplicate for the full clinical picture.
我们使用了一组中国仓鼠与人类的体细胞杂种，每个杂种都含有21号染色体的不同部分作为唯一可检测到的人类染色体成分，用于对克隆的、源自21号染色体的DNA序列进行区域定位。30个独特且重复率极低的序列被定位到短臂以及长臂的三个区域。三个独特序列定位到末端带21q22.3的近端部分，五个定位到该带的远端部分。其中一些可能代表了基因序列的部分，这些基因序列可能与唐氏综合征的发病机制相关，因为21q22是出现三倍体才能呈现完整临床表现的区域。
