Suthers G K, Hyland V J, Callen D F, Oberle I, Rocchi M, Thomas N S, Morris C P, Schwartz C E, Schmidt M, Ropers H H
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
Am J Hum Genet. 1990 Aug;47(2):187-95.
The fragile X syndrome is a very common disorder, but there has been little progress toward isolating the fragile X mutation (FRAXA). We describe a panel of 14 somatic cell hybrid lines, lymphoblastoid cell lines, and peripheral lymphocytes with X-chromosome translocation or deletion breakpoints near FRAXA. The locations of the breakpoints were defined with 16 established probes between pX45d (DXS100) and St14-1 (DXS52). Seven of the cell lines had breakpoints between the probes RN1 (DXS369) and U6.2 (DXS304), which flank FRAXA at distances of 3-5 centimorgans. The panel of cell lines was used to localize 16 new DNA probes in this region. Six of the probes-VK16, VK18, VK23, VK24, VK37, and VK47--detected loci near FRAXA, and it was possible to order both the X-chromosome breakpoints and the probes in relation to FRAXA. The order of probes and loci near FRAXA is cen-RN1,VK24-VK47-VK23-VK16,FRAXA-++ +VK21A-VK18-IDS-VK37-U6.2-qter. The breakpoints near FRAXA are sufficiently close together that probes localized with this panel can be linked on a large-scale restriction map by pulsed-field gel electrophoresis. This panel of cell lines will be valuable in rapidly localizing other probes near FRAXA.
脆性X综合征是一种非常常见的疾病，但在分离脆性X突变（FRAXA）方面进展甚微。我们描述了一组14个体细胞杂交系、淋巴母细胞系以及外周淋巴细胞，它们的X染色体易位或缺失断点位于FRAXA附近。断点的位置用位于pX45d（DXS100）和St14 - 1（DXS52）之间的16个已确立的探针来确定。其中7个细胞系的断点位于探针RN1（DXS369）和U6.2（DXS304）之间，这两个探针在距离FRAXA 3 - 5厘摩的侧翼位置。该细胞系面板用于在这个区域定位16个新的DNA探针。其中6个探针——VK16、VK18、VK23、VK24、VK37和VK47——检测到了FRAXA附近的位点，并且有可能将X染色体断点和探针相对于FRAXA进行排序。FRAXA附近探针和位点的顺序是着丝粒-RN1、VK24 - VK47 - VK23 - VK16、FRAXA - +++VK21A - VK18 - IDS - VK37 - U6.2 - 端粒。FRAXA附近的断点靠得足够近，以至于用该面板定位的探针可以通过脉冲场凝胶电泳在大规模限制酶切图谱上进行连锁分析。这组细胞系对于快速定位FRAXA附近的其他探针将具有重要价值。
