Marçais B, Gérard A, Bellis M, Roizès G
UPR 8402 CNRS-U.249 INSERM, Institut de Biologie, Montpellier, France.
Hum Genet. 1991 Jan;86(3):307-10. doi: 10.1007/BF00202417.
We have analysed the TaqI patterns obtained with an alphoid DNA probe specific for human chromosomes 13 and 21 in a number of unrelated individuals, as well as in the somatic hybrid WA 17 which carries chromosome 21 as a unique human chromosome. In certain individuals, two types of extra bands are superimposed over the relatively simple basic banding pattern exhibited by all individuals. Thus, three independent allele-specific DNA patterns are defined. The basic and normal organization of the alpha satellite in chromosome 21 consists of tandemly arranged arrays of repeats representing 11 times the 171-bp monomer of the alphoid DNA sequences. The supernumerary bands found in some individuals are organized in tandemly arranged subsets of repeats representing 18 times and 9.5 times the 171bp basic monomer, respectively. These less fragment alleles segregate in a Mendelian fashion. Linkage analyses suggest that they originate from chromosomes 13 and 21, respectively.
我们分析了在许多无关个体以及携带21号染色体作为唯一人类染色体的体细胞杂种WA 17中，使用针对人类13号和21号染色体的α卫星DNA探针获得的TaqI模式。在某些个体中，两种额外的条带叠加在所有个体呈现的相对简单的基本条带模式之上。因此，定义了三种独立的等位基因特异性DNA模式。21号染色体上α卫星的基本和正常组织由串联排列的重复序列阵列组成，这些重复序列代表α卫星DNA序列171bp单体的11倍。在一些个体中发现的额外条带由串联排列的重复序列子集组成，分别代表171bp基本单体的18倍和9.5倍。这些片段较少的等位基因以孟德尔方式分离。连锁分析表明，它们分别起源于13号和21号染色体。
