CHROMOSOMAL JUMPING FROM THE DXS165 LOCUS ALLOWS MOLECULAR CHARACTERIZATION OF 4 MICRODELETIONS AND A DENOVO CHROMOSOME X/13 TRANSLOCATION ASSOCIATED WITH CHOROIDEREMIA
CHROMOSOMAL JUMPING FROM THE DXS165 LOCUS ALLOWS MOLECULAR CHARACTERIZATION OF 4 MICRODELETIONS AND A DENOVO CHROMOSOME X/13 TRANSLOCATION ASSOCIATED WITH CHOROIDEREMIA
复制标题
DOI：
10.1073/pnas.86.19.7510
复制
发表时间：
1989-10-01
影响因子：
11.1
通讯作者：
ROPERS, HH
中科院分区：
文献类型：
--
作者：
CREMERS, FPM;VANDEPOL, DJR;ROPERS, HH
脉络膜病（带状脉络膜营养不良，TCD）是一种 X 染色体连锁的视网膜和脉络膜疾病，会导致受影响的男性在三至四十岁时出现进行性夜盲和中枢性失明。最近，我们已经能够将 TCD 基因定位到在 TCD 和其他临床特征患者中发现的五个不同的、男性可行的 Xq21 缺失之间的一个小重叠区域。鉴定出两个家族，其中经典的非综合征性 TCD 与小间质缺失相关，而这些缺失只能用探针 p1bD5 (DXS165) 检测到。为了表征这些缺失以及最近发现的另外两个缺失，我们使用染色体行走和跳跃技术来生成一组五个染色体跳跃克隆，它们位于 DXS165 基因座两侧不同的距离。通过这些克隆，我们可以定位患有新 X/13 易位和无脉络膜血症的女性 X 染色体上的 8 个缺失端点中的 4 个和断裂点。这些研究将 TCD 基因或其一部分分配给仅 15-20 kilobase 的 DNA 片段。
Choroidermia (tapeto-choroidal dystrophy, TCD), an X chromosome-linked disorder of retina and choroid, causes progressive nightblindness and central blindness in affected males by the third to fourth decade of life. Recently, we have been able to map the TCD gene to a small region of overlap between five different, male-viable Xq21 deletions that were found in patients with TCD and other clinical features. Two families were identified in which classical, nonsyndromic TCD is associated with small interstitial deletions that are only detectable with probe p1bD5 (DXS165). To characterize these and two other deletions that were identified more recently, we have used the chromosome walking and jumping techniques to generate a set of five chromosomal-jumping clones flanking the DXS165 locus at various distances. With these clones, we could localize four of the eight deletion endpoints and the breakpoint on the X chromosome of a female with a de novo X/13 translocation and choroideremia. These studies assign the TCD gene, or part of it, to a DNA segment of only 15-20 kilobases.