Welling D B, Guida M, Goll F, Pearl D K, Glasscock M E, Pappas D G, Linthicum F H, Rogers D, Prior T W
Department of Otolaryngology, Ohio State University, Columbus 43210, USA.
Hum Genet. 1996 Aug;98(2):189-93. doi: 10.1007/s004390050188.
Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identification of 33 unique mutations. Similarly to other human genes, we have shown that the CpG sites are more highly mutable in the NF2 gene. The frequency, distribution, and types of mutations were shown to differ between the sporadic and familial tumors. The majority of the mutations resulted in protein truncation and were consistent with more severe phenotype, however three missense mutations were identified during this study and were all associated with milder manifestations of the disease.
通过异源双链法和直接测序，我们已完成对从33例神经纤维瘤病2型（NF2）患者的神经鞘瘤以及29例散发神经鞘瘤患者中提取的DNA的约88%的NF2编码序列的筛选。广泛的筛选已鉴定出33个独特的突变。与其他人类基因类似，我们已表明NF2基因中的CpG位点更易发生突变。已显示散发和家族性肿瘤之间的突变频率、分布和类型有所不同。大多数突变导致蛋白质截短，并与更严重的表型一致，然而在本研究中鉴定出三个错义突变，且均与疾病的较轻表现相关。
