Hernandez D, Pannett A A, Tybulewicz V, Fisher E M
Department of Molecular Genetics and Biochemistry, Imperial College-St. Mary's Hospital Medical School, London, UK.
Hum Genet. 1995 Jun;95(6):721-2. doi: 10.1007/BF00209498.
We have isolated a highly polymorphic sequence from the Down syndrome critical region on human chromosome 21. This is a particularly useful marker because it lies adjacent to the locus D21S55, which is most closely associated with the major defects on Down syndrome. Other than this marker, few other variable sequences are known in this region (including other restriction fragment length polymorphisms or CA repeats) and therefore D21S1448 will be extremely helpful not only for people studying the inheritance of portions of chromosome 21 with respect to Down syndrome, but also for those carrying out linkage analysis of the chromosome.
我们从人类21号染色体的唐氏综合征关键区域分离出了一个高度多态性序列。这是一个特别有用的标记,因为它位于与唐氏综合征主要缺陷最密切相关的D21S55基因座附近。除了这个标记外,该区域已知的可变序列很少(包括其他限制性片段长度多态性或CA重复序列),因此D21S1448不仅对研究21号染色体部分与唐氏综合征相关遗传的人非常有帮助,而且对进行该染色体连锁分析的人也极为有用。