DETECTION OF A NEUROFIBROMATOSIS TYPE-I (NF1) HOMOLOGOUS SEQUENCE BY PCR - IMPLICATIONS FOR THE DIAGNOSIS AND SCREENING OF GENETIC-DISEASES

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. © 1993 Academic Press, Limited.