The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
复制标题
通过荧光原位杂交检测神经纤维瘤病 1 基因座的连续基因缺失。
DOI：
10.1159/000134171
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
Stephens,K
中科院分区：
文献类型：
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作者：
Leppig,KA;Viskochil,D;Neil,S;Rubenstein,A;Johnson,VP;Zhu,XL;Brothman,AR;Stephens,K
1型神经纤维瘤病（NF 1）是一种常见的遗传性疾病，其特征主要在于多发性神经纤维瘤和色素改变的发展。最近确定的连续基因缺失NF 1这种疾病的分子基础以前未被认识到，提出了重要的问题，在患者人群中的缺失频率和连续基因可能发挥的作用，在NF 1患者的身体表现。为了便于鉴定具有大NF 1缺失的患者，我们分离了携带来自NF 1基因座的大基因组区段的克隆，并测试了它们作为荧光原位杂交（FISH）探针的功效。克隆P1-9跨越约65 kb的NF 1基因，包括外显子2-11，克隆P1-12携带约55 kb的NF 1内含子27 B。用P1-9、P1-12和一组重叠的1F 10粘粒克隆进行FISH研究，将端粒映射到NF 1位点，发现两名新的1型神经纤维瘤病患者存在大的缺失，这些患者与先前描述的缺失患者一样，具有轻度畸形的面部特征和大量的皮肤神经纤维瘤。
Neurofibromatosis type 1 (NFl) is a common genetic disorder characterized primarily by the development of multiple neurofibromas and pigmentary changes. The recent identification of contiguous gene deletions in NF1 a previously unrecognized molecular basis for this disorder, raises important questions regarding deletion frequency in the patient population and the role that contiguous genes may play in the physical manifestations of NF1 patients. To facilitate the identification of patients with large NFl deletions, we have isolated clones carrying large genomic segments from the NF1 locus and tested their efficacy as probes for fluorescence in situ hybridization (FISH). Clone P1-9 spans approximately 65 kb of the NFl gene, including exons 2–11, and clone P1-12 carries ∼55 kb of NFl intron 27B. FISH studies performed with P1-9, P1-12, and a set of overlapping 1F10 cosmid clones mapping telomeric to the NF1 locus identified large deletions in two new neurofibromatosis type 1 patients who, like previously characterized deletion patients, had mildly dysmorphic facial features and large numbers of cutaneous neurofibromas.