Crété N, Delabar J M, Rahmani Z, Yaspo M L, Kraus J, Marks A, Sinet P M, Créau-Goldberg N
URA CNRS 1335, Hôpital Necker-Enfants Malades, Paris, France.
Hum Genet. 1993 Apr;91(3):245-53. doi: 10.1007/BF00218265.
A partial physical map of the human chromosome 21 including 26 genes and anonymous sequences was established by pulsed-field gel electrophoresis analysis of restriction fragments obtained from lymphocyte and fibroblast DNAs. The sizes of the restriction fragments obtained by total digestion with eight different enzymes were compared in these two tissues. Differences resulting from the variations in the methylation state of the restriction sites were frequently observed. These differences and partial digestions were used to estimate the order and the distances between genes and sequences. Six linkage groups were defined: D21S13-D21S16, D21S1-D21S11, D21S65-D21S17, (D21S55,ERG)-ETS2, BCEI-D21S19-D21S42-D21S113-CBS-CRYA1, and COL6A2-S100B. For six intergenic distances the resolution of previous maps was significantly increased.
通过对从淋巴细胞和成纤维细胞DNA中获得的限制性片段进行脉冲场凝胶电泳分析,构建了包含26个基因和匿名序列的人类21号染色体部分物理图谱。比较了用八种不同酶完全消化后在这两种组织中获得的限制性片段的大小。经常观察到由于限制性位点甲基化状态变化而产生的差异。利用这些差异和部分消化来估计基因和序列之间的顺序和距离。定义了六个连锁群:D21S13 - D21S16、D21S1 - D21S11、D21S65 - D21S17、(D21S55, ERG)-ETS2、BCEI - D21S19 - D21S42 - D21S113 - CBS - CRYA1和COL6A2 - S100B。对于六个基因间距离,先前图谱的分辨率显著提高。