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

P. Gasparini; A. Grifa; P. Origone; D. Coviello; R. Antonacci; M. Rocchi

doi:10.1006/mcpr.1993.1061

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

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	415-418
Number of pages	4
Journal	Molecular and Cellular Probes
Volume	7
Issue number	5
DOIs	https://doi.org/10.1006/mcpr.1993.1061
Publication status	Published - 1993

Keywords

Homologous sequences
Neurofibromatosis type I (NF1)
PCR

ASJC Scopus subject areas

Cell Biology
Molecular Biology

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10.1006/mcpr.1993.1061

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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.",

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AU - Origone, P.

AU - Coviello, D.

AU - Antonacci, R.

AU - Rocchi, M.

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