Zajac V, Kirchhoff T, Levy E R, Horsley S W, Miller A, Steichen-Gersdorf E, Monaco A P
Cancer Research Institute, Slovak Academy of Science, Bratislava, Slovakia.
Eur J Hum Genet. 1997 Mar-Apr;5(2):61-8.
An X;17 translocation breakpoint was characterised in a 5-year-old female with hypomelanosis of Ito (HI) who exhibits characteristic hypopigmented lesions, psychomotor retardation, and choroid plexus papilloma. A YAC clone containing the locus DXS1 from Xq12 was found by fluorescence in situ hybridisation to cross the translocation breakpoint. Cosmid clones positive for DXS1 were used to identify and clone the translocation junction fragment from the patient's DNA. A chromosome-17-specific DNA fragment was isolated and used to identify cosmid clones crossing the translocation from chromosome 17p13. Exon trapping identified two known genes from chromosome 17: FMR1L2 (the fragile X mental retardation syndrome like protein 2) and SHBG (human sex hormone-binding globulin). Mapping the FMR1L2 and SHBG genes showed that neither gene was disrupted by the translocation.
在一名患有伊藤色素减退症（HI）的5岁女性中，对一个X;17易位断点进行了特征分析。该女性表现出特征性的色素减退性皮损、精神运动发育迟缓以及脉络丛乳头状瘤。通过荧光原位杂交发现，一个包含来自Xq12的DXS1位点的酵母人工染色体（YAC）克隆跨越了易位断点。对DXS1呈阳性的黏粒克隆被用于从患者DNA中鉴定和克隆易位连接片段。分离出一个17号染色体特异性DNA片段，并用于鉴定跨越17号染色体17p13易位的黏粒克隆。外显子捕获从17号染色体中鉴定出两个已知基因：FMR1L2（脆性X智力障碍综合征样蛋白2）和SHBG（人类性激素结合球蛋白）。对FMR1L2和SHBG基因进行定位显示，这两个基因均未因易位而被破坏。
