PHYSICAL FINE MAPPING OF THE CHOROIDEREMIA LOCUS USING XQ21 DELETIONS ASSOCIATED WITH COMPLEX SYNDROMES
PHYSICAL FINE MAPPING OF THE CHOROIDEREMIA LOCUS USING XQ21 DELETIONS ASSOCIATED WITH COMPLEX SYNDROMES
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DOI：
10.1016/0888-7543(89)90312-1
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发表时间：
1989-01-01
期刊：
影响因子：
4.4
通讯作者：
ROPERS, HH
中科院分区：
文献类型：
--
作者：
CREMERS, FPM;VANDEPOL, DJR;ROPERS, HH
几个男性可行的缺失和重复与20个随机DNA探针的表征，使我们能够细分为7个可辨别的间隔Xq21区域。几乎所有跨越Xq21部分的缺失都与无脉络膜和精神发育迟滞有关，耳聋是另一个常见特征。无脉络膜的基因座被分配到区间3，跨越基因座DXS95、DXS165和DXS233。X连锁耳聋和精神发育迟滞的基因暂时被分配到区间2。间隔4至7的缺失与任何临床异常无关。我们已经构建了一个初步的远程限制性图谱的间隔2和3使用场反转凝胶电泳。DXS232、DXS121和DXS233基因座位于同一SfiI片段上，而DXS165和DXS95基因座无法使用SfiI和SalI与该簇相连。
Characterization of several male-viable deletions and duplications with 20 random DNA probes has enabled us to subdivide the Xq21 region into seven discernible intervals. Almost all the deletions spanning part of Xq21 are associated with choroideremia and mental retardation, with deafness being another common feature. The gene locus for choroideremia was assigned to interval 3 spanning the loci DXS95, DXS165, and DXS233. Genes for X-linked deafness and mental retardation were tentatively assigned to interval 2. Deletions of intervals 4 through 7 were not associated with any clinical abnormality. We have constructed a preliminary long-range restriction map of intervals 2 and 3 using field-inversion gel electrophoresis. The DXS232, DXS121, and DXS233 loci are located on the same SfiI fragment, whereas the DXS165 and DXS95 loci could not be linked to this cluster using SfiI and SalI.