通过聚合酶链反应检测I型神经纤维瘤病（NF1）同源序列：对遗传疾病诊断和筛查的意义

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases.

作者信息

Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M

机构信息

Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, Italy.

出版信息

Mol Cell Probes. 1993 Oct;7(5):415-8. doi: 10.1006/mcpr.1993.1061.

DOI:10.1006/mcpr.1993.1061

PMID:8264676

Abstract

The neurofibromatosis type I (NF1) gene was extensively screened for mutations using single strand conformation polymorphism (SSCP) technology. During the analysis of the NF1 GAP-related domain, electrophoretically abnormal fragments were detected. Direct sequencing of these fragments allowed us to identify the presence of a NF1 highly homologous sequence (NF1HHS). A detailed analysis of a hybrid panel located this sequence on chromosome 15q24-->qter. An accurate search through several data banks demonstrated that this sequence is a new NF1 homologue. This report shows how it is possible to find homologous sequences at random, and subsequently to make wrong interpretations.

摘要

利用单链构象多态性（SSCP）技术对I型神经纤维瘤病（NF1）基因进行了广泛的突变筛查。在对NF1 GAP相关结构域的分析过程中，检测到了电泳异常片段。对这些片段进行直接测序使我们能够鉴定出一个NF1高度同源序列（NF1HHS）的存在。对一个杂种细胞系的详细分析将该序列定位于15号染色体q24→qter区域。通过对几个数据库的精确检索表明，该序列是一个新的NF1同源物。本报告展示了如何可能随机找到同源序列，以及随后如何做出错误的解释。