Taymans S E, Kirschner L S, Giatzakis C, Stratakis C A
Section on Pediatric Endocrinology, National Institute of Child Health and Human Development, Bethesda, Maryland, 20892-1862, USA.
Genomics. 1999 Mar 15;56(3):344-9. doi: 10.1006/geno.1998.5720.
Chromosomal region 2p15-p16, which corresponds to the genetic interval flanked by polymorphic markers D2S119 and D2S378 and covers a genetic distance of approximately 16 cM, is underrepresented in the existing maps of chromosome 2. This is primarily due to two large gaps of unknown physical distance within the known yeast and bacterial artificial chromosome (YAC and BAC, respectively) maps. In constructing a YAC/BAC contig covering 2p15-p16, a total of 55 sequence-tagged sites (25 of which are polymorphic), including new sequences derived from chromosomal walking, and 38 expressed sequence tags were screened by a commercially available RH panel (Stanford G3). A total of 45 of these sequences were placed; 32 of them were assigned at unique sites. The high-resolution TNG3 RH panel was then used to define further the chromosomal order of markers contained in the region flanked by D2S391 and D2S2153. This region harbors the genes for two autosomal dominant disorders, Carney complex (CNC), a multiple neoplasia syndrome, and Doyne honeycomb retinal dystrophy (DHRD), a disease leading to blindness at a young age. This is the first attempt to order cloned sequences in chromosomal region 2p15-p16, an area apparently resistant to YAC cloning. Construction of the 2p15-p16 RH map is critical for identifying the genes responsible for CNC and DHRD, as well as for the molecular elucidation of a chromosomal region that is frequently rearranged in tumors.
染色体区域2p15 - p16对应于由多态性标记D2S119和D2S378侧翼的遗传区间，覆盖约16厘摩的遗传距离，在现有的2号染色体图谱中代表性不足。这主要是由于在已知的酵母人工染色体（YAC）和细菌人工染色体（BAC）图谱中存在两个未知物理距离的大间隙。在构建覆盖2p15 - p16的YAC/BAC重叠群时，通过市售的辐射杂种板（斯坦福G3）筛选了总共55个序列标签位点（其中25个是多态性的），包括来自染色体步移的新序列，以及38个表达序列标签。这些序列中共有45个被定位；其中32个被分配到独特位点。然后使用高分辨率的TNG3辐射杂种板进一步确定由D2S391和D2S2153侧翼的区域中所含标记的染色体顺序。该区域包含两种常染色体显性疾病的基因，卡尼综合征（CNC），一种多肿瘤综合征，以及多伊内蜂窝状视网膜营养不良（DHRD），一种导致年轻时失明的疾病。这是首次尝试对染色体区域2p15 - p16中的克隆序列进行排序，该区域显然对YAC克隆具有抗性。构建2p15 - p16辐射杂种图谱对于鉴定导致CNC和DHRD的基因以及对肿瘤中频繁重排的染色体区域进行分子解析至关重要。
